Genomics England

ATP6V0A2

ATPase H+ transporting V0 subunit a2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 8.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIA 21920, Wrinkly skin syndrome 278250, V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIA 219200, Wrinkly skin syndrome 278250
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 4.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIA, OMIM:219200, Wrinkly skin syndrome, OMIM:278250
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Wrinkly skin syndrome 219200, Cutis laxa, autosomal recessive, type IIA
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIA 219200, Wrinkly skin syndrome 278250
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies), Cutis laxa, autosomal recessive, type IIA 21920, Wrinkly skin syndrome 278250
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIA 219200, Cutis laxa, autosomal recessive, type IIA 219200