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BabyScreen+ newborn screening

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Evidence for gene-disease association:
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
Created: 3 Mar 2023, 8:56 a.m. | Last Modified: 3 Mar 2023, 8:56 a.m.
Panel Version: 0.1872

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857

Publications

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

On GUARDIAN and RxGenes gene lists
Severe paediatric onset
Extremely rare <10 cases
disorder of B12 metabolism
treatment cobalamin, carnitine & diet


*this was red in additional findings list, I think from the low number of reported cases? Classified as moderate gene disease association by Babyseq. It meets criteria for our mendeliome and has effective treatment. I think we should include.
Created: 23 Feb 2023, 3:33 a.m. | Last Modified: 23 Feb 2023, 3:33 a.m.
Panel Version: 0.1872

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BeginNGS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Tags
treatable metabolic
OMIM
603214
Clinvar variants
Variants in ABCD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ABCD4.

26 Jul 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: ABCD4.

3 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCD4 were changed from MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE; Methylmalonic aciduria and homocystinuria, cblJ type to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857

3 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCD4 were set to

3 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 2022, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Red was added to ABCD4. Source BabySeq Category C gene was added to ABCD4. Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type for gene: ABCD4 Rating Changed from Green List (high evidence) to Red List (low evidence)

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCD4 was added gene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE