Genomics England
GMS Panels
Panels
Genes and Entities

ATP11A

ATPase phospholipid transporting 11A
OMIM: 605868
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 6.34
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 84, OMIM:619810
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, hypomyelinating, 24, OMIM:619851