Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R31 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Saul-Wilson syndrome, OMIM:618150, microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 |
Component of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIj 613489, Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes COG4-CDG 319493, Saul-Wilson syndrome 618150 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COG4-CDG, Saul-Wilson syndrome, 618150 |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Saul-Wilson syndrome, OMIM:618150, microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIj, 613489, COG4-CDG (CDG-IIJ) |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency), Congenital disorder of glycosylation, type IIj 613489 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Saul-Wilson syndrome, OMIM:618150, microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 |