Genomics England

SOX10

SRY-box 10

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	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
Green in Disorders of sex development R-numbers: R146 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Waardenburg syndrome, type 4C 613266
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	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
Green in Hypogonadotropic hypogonadism (GMS) 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
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	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)
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.0	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
Green in Paediatric pseudo-obstruction syndrome 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
Green in Pigmentary skin disorders 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
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.0	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