BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: MOCS2

MOCS2 (molybdenum cofactor synthesis 2)
EnsemblGeneIds (GRCh38): ENSG00000164172
EnsemblGeneIds (GRCh37): ENSG00000164172
OMIM: 603708, Gene2Phenotype
MOCS2 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 B, 252160

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 B, 252160

OMIM

603708

Clinvar variants

Variants in MOCS2

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MOCS2 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source