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Fetal anomalies

Gene: ABCD4

Amber List (moderate evidence)

ABCD4 (ATP binding cassette subfamily D member 4)
EnsemblGeneIds (GRCh38): ENSG00000119688
EnsemblGeneIds (GRCh37): ENSG00000119688
OMIM: 603214, Gene2Phenotype
ABCD4 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Although ABCD4 (CblJ complementation group) is associated with congenital heart disease in PMID:20301503, the Disease confidence rating in Gene2Phenotype is 'probable' with two compound het cases listed in OMIM. Therefore kept rating as Amber awaiting further evidence.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
DDG2P rating in original PAGE list: Probable for METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
Created: 11 Dec 2018, 9:04 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
OMIM
603214
Clinvar variants
Variants in ABCD4
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ABCD4 was added gene: ABCD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE