SOX10

PanelMode of inheritanceDetails
9 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
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 4.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Waardenburg syndrome, type 4C 613266
R-numbers: R21, R412
Signed-off version 4.0
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
R-numbers: R148
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Waardenburg syndrome type 4C, OMIM:611584, Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584, congenital hypogonadotropic hypogonadism, MONDO:0015770
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
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
R-numbers: R438
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PCWH syndrome, OMIM:609136, Waardenburg syndrome, type 4C, OMIM:613266
R-numbers: R236
Signed-off version 3.0
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:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
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