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 4.13	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 R-numbers: R59 Signed-off version 4.134	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 3.0	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 3.122	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: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIA 219200, Wrinkly skin syndrome 278250
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	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 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIA 219200, Cutis laxa, autosomal recessive, type IIA 219200