Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073, Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823, Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, Hypotrichosis-lymphedema-telangiectasia syndrome, HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, HLTRS |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, 607823, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940 |
Green in Vascular skin disordersR-numbers: R326 Signed-off version 1.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome |