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Intellectual disability

Gene: CNTNAP1

Green List (high 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)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
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 Green
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3 618186
  • Lethal congenital contracture syndrome 7 616286
OMIM
602346
Clinvar variants
Variants in CNTNAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: CNTNAP1.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CNTNAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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