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Intellectual disability

Gene: CNTNAP1

Amber List (moderate evidence)

CNTNAP1 (contactin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 11 Aug 2020, 4:57 p.m. | Last Modified: 11 Aug 2020, 4:57 p.m.
Panel Version: 3.244
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Lethal congenital contracture syndrome 7 61628. At least four variants reported four unrelated cases of Lethal congenital contracture syndrome 7 616286 and seven variants reported in four cases of Hypomyelinating neuropathy, congenital, 3 618186. Both of these conditions include intellectual disability.
Created: 11 Aug 2020, 4:57 p.m. | Last Modified: 11 Aug 2020, 5:01 p.m.
Panel Version: 3.244

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals reported; ID is part of the phenotype.
Sources: Expert list
Created: 1 Feb 2020, 5:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3 618186
  • Lethal congenital contracture syndrome 7 616286
Tags
for-review
OMIM
602346
Clinvar variants
Variants in CNTNAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cntnap1 has been classified as Amber List (Moderate Evidence).

11 Aug 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: CNTNAP1.

11 Aug 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286 to Hypomyelinating neuropathy, congenital, 3 618186; Lethal congenital contracture syndrome 7 616286

1 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CNTNAP1 was added gene: CNTNAP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 28374019; 29511323; 27668699 Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286 Review for gene: CNTNAP1 was set to GREEN gene: CNTNAP1 was marked as current diagnostic