Genomics England
GMS Panels
Panels
Genes and Entities

CNTNAP1

contactin associated protein 1
OMIM: 602346
PanelMode of inheritanceDetails
6 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 7, OMIM:616286
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating neuropathy, congenital, 3 618186, Lethal congenital contracture syndrome 7 616286
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating neuropathy, congenital, 3, OMIM:618186