White matter disorders and cerebral calcification - narrow panel
Gene: CNTNAP1EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 9 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There are sufficient cases of white matter disease from unrelated families to warrant a Green rating at the next GMS panel update.Created: 7 Jun 2021, 12:48 p.m. | Last Modified: 7 Jun 2021, 12:49 p.m.
Panel Version: 1.153
At least 10 unrelated families reported in literature. Brain imaging in all affected patients shows marked brain hypomyelination/demyelination, as well as variably reduced white matter volume and cerebral atrophy.Created: 7 Jun 2021, 12:46 p.m. | Last Modified: 7 Jun 2021, 12:46 p.m.
Panel Version: 1.150
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Publications
Zornitza Stark (Australian Genomics)
Central hypomyelination reported in four unrelated families. The two OMIM disorders likely represent a spectrum of severity.Created: 15 Sep 2020, 9:59 a.m. | Last Modified: 15 Sep 2020, 9:59 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating neuropathy, congenital, 3, MIM# 618186; Lethal congenital contracture syndrome 7, MIM# 616286
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hypomyelinating neuropathy, congenital, 3, OMIM:618186
- OMIM
- 602346
- Clinvar variants
- Variants in CNTNAP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: CNTNAP1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to CNTNAP1. Source Expert Review Green was added to CNTNAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CNTNAP1 were set to 29882456
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cntnap1 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: CNTNAP1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications
Ellen McDonagh (Genomics England Curator)gene: CNTNAP1 was added gene: CNTNAP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 29882456