Genomics England
GMS Panels
Panels
Genes and Entities

AP1S1

adaptor related protein complex 1 sigma 1 subunit
OMIM: 603531
PanelMode of inheritanceDetails
4 panels
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
MEDNIK syndrome, 609313, MEDNIK syndrome, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic congenital intestinal failure, MEDNIK syndrome, OMIM:609313
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic congenital intestinal failure, MEDNIK syndrome, OMIM:609313
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MEDNIK syndrome