CNTNAP1

contactin associated protein 1
OMIM: 602346, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CNTNAP1 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Green CNTNAP1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Green CNTNAP1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contracture syndrome 7, OMIM:616286
Green CNTNAP1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 7
Green CNTNAP1 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286
Green CNTNAP1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Hypomyelinating neuropathy, congenital, 3, 618186
Amber CNTNAP1 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.110 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Tags Q3_23_promote_green
Green CNTNAP1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypomyelinating neuropathy, congenital, 3 618186 Lethal congenital contracture syndrome 7 616286
Amber CNTNAP1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes Hypomyelinating neuropathy, congenital, 3, 618186
Green CNTNAP1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Lethal congenital contracture syndrome 7, 616286 Hypomyelinating neuropathy, congenital, 3, 618186