BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: MOCS1

MOCS1 (molybdenum cofactor synthesis 1)
EnsemblGeneIds (GRCh38): ENSG00000124615
EnsemblGeneIds (GRCh37): ENSG00000124615
OMIM: 603707, Gene2Phenotype
MOCS1 is in 7 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency A, 252150

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

Created: 7 Feb 2017, 4:36 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Molybdenum cofactor deficiency A, 252150

OMIM

603707

Clinvar variants

Variants in MOCS1

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MOCS1 was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE

7 Feb 2017, Gel status: 0

Created