BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: ADSL

ADSL (adenylosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000239900
EnsemblGeneIds (GRCh37): ENSG00000239900
OMIM: 608222, Gene2Phenotype
ADSL is in 8 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; sfari_20150206; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Uncertain
Created: 7 Feb 2017, 4:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenylosuccinase deficiency, 103050

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

Created: 7 Feb 2017, 4:09 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Adenylosuccinase deficiency, 103050

OMIM

608222

Clinvar variants

Variants in ADSL

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADSL was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source