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  3. ABCD4
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Vitamin metabolism disorders

Gene: ABCD4

Green List (high evidence)
ABCD4 (ATP binding cassette subfamily D member 4)
EnsemblGeneIds (GRCh38): ENSG00000119688
EnsemblGeneIds (GRCh37): ENSG00000119688
OMIM: 603214, Gene2Phenotype
ABCD4 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Inborn error of vitamin B12 metabolism - >3 unrelated cases and a supporting mouse model
PMID: 22922874 - 2 unrelated cases with biallelic variants. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype.
PMID: 30651581 - a Chinese case with a homozygous variant c.423C>G (p.Asn141Lys)
PMID: 28572511 - 1 compound het case with supporting functional assays
PMID: 31113616 - abcd4 null zebrafish model leads to vitamin B 12-deficiency anemia
Sources: NHS GMS
Created: 22 Jan 2021, 3:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857

Publications

Created: 22 Jan 2021, 3:53 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
  • disorder of vitamin B12 metabolism
OMIM
603214
Clinvar variants
Variants in ABCD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857; disorder of vitamin B12 metabolism

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: abcd4 has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: abcd4 has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ABCD4 was added gene: ABCD4 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511 Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 Review for gene: ABCD4 was set to GREEN gene: ABCD4 was marked as current diagnostic