BRIDGE_SPEED_NEURO_20170705
Gene: NYX

NYX (nyctalopin)
EnsemblGeneIds (GRCh38): ENSG00000188937
EnsemblGeneIds (GRCh37): ENSG00000188937
OMIM: 300278, Gene2Phenotype
NYX is in 6 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:29 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

25529582

Created: 2 Aug 2017, 5:34 p.m.

Panel version: 0.191

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Night blindness, congenital stationary (complete), 1A, X-linked, 310500

OMIM

300278

Clinvar variants

Variants in NYX

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

NYX was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source