White matter disorders and cerebral calcification - narrow panel
Gene: CNTNAP1
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
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
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
Tag Q2_21_rating was removed from gene: CNTNAP1.
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)
Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Publications for gene: CNTNAP1 were set to 29882456
Gene: cntnap1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: CNTNAP1.
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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