Fetal anomalies
Gene: SOX10

SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 30 Apr 2019, 8:24 a.m.

DDG2P rating in original PAGE list: Confirmed for PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, Confirmed for YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, Confirmed for WAARDENBURG SYNDROME TYPE 2E, Confirmed for KALLMANN SYNDROME WITH DEAFNESS and Confirmed for WAARDENBURG SYNDROME TYPE 4C.
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as Dominant negative for PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, and listed as Uncertain for YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.228

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
KALLMANN SYNDROME WITH DEAFNESS
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
WAARDENBURG SYNDROME TYPE 4C
WAARDENBURG SYNDROME TYPE 2E

OMIM

602229

Clinvar variants

Variants in SOX10

Penetrance

None

Panels with this gene