BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: ALDH18A1

ALDH18A1 (aldehyde dehydrogenase 18 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 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; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function; Dominant negative
Created: 7 Feb 2017, 4:09 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IIIA, 219150

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

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Cutis laxa, autosomal recessive, type IIIA, 219150

OMIM

138250

Clinvar variants

Variants in ALDH18A1

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALDH18A1 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source