Genomics England
GMS Panels
Panels
Genes and Entities

CLDN11

claudin 11
OMIM: 601326
PanelMode of inheritanceDetails
4 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, hypomyelinating, 22, OMIM:619328
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, hypomyelinating, 22, OMIM:619328
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, hypomyelinating, 22, OMIM:619328
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, hypomyelinating, 22, OMIM:619328