SOX10

PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WAARDENBURG SYNDROME TYPE 2E 611584, KALLMANN SYNDROME WITH DEAFNESS, WAARDENBURG SYNDROME TYPE 4C 613266, YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 601706, PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136
R-numbers: R146
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Waardenburg syndrome, type 4C 613266
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Waardenburg syndrome, type 4C, 613266, #609136:PCWH syndrome, #611584:Waardenburg syndrome, type 2E, with or without neurologic involvement
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Waardenburg syndrome, type 4C, 613266Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584PCWH syndrome, 609136, PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (PCWH)
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCWH, WAARDENBURG SYNDROME, TYPE 4C, Waardenburg syndrome, PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, WS4C, WAARDENBURG SYNDROME, TYPE 2E, WS2E
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy, PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy