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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and hematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.

At least 6 affected individuals reported.
Created: 21 Jul 2021, 10:35 a.m. | Last Modified: 21 Jul 2021, 10:35 a.m.
Panel Version: 0.3992

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
  • Genetic Health Queensland
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857
OMIM
603214
Clinvar variants
Variants in ABCD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jul 2021, 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).

21 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCD4 were set to

21 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCD4 was added gene: ABCD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ABCD4 was set to Unknown