Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q1_22_MOI | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Q4_21_MOI | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | Q1_22_expert_review, Q1_22_MOI | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | for-review, to_be_confirmed_NHSE | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Q1_22_MOI | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MITOCHONDRIAL | N/A | locus-type-rna-ribosomal, gene-checked | |
Green | MITOCHONDRIAL | N/A | gene-checked | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | for-review, to_be_confirmed_NHSE | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |