DDG2P
Gene: ABCA2

ABCA2 (ATP binding cassette subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000107331
EnsemblGeneIds (GRCh37): ENSG00000107331
OMIM: 600047, Gene2Phenotype
ABCA2 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia are moderate, biallelic_autosomal and loss of function (PMIDs: 29302074, 30237576, 31047799, 31231135, 38228874). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03715.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia; MONDO:0032930; OMIM:618808.0

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

OMIM:618808.0
MONDO:0032930
ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia

OMIM

600047

Clinvar variants

Variants in ABCA2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ABCA2 was added gene: ABCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA2 were set to 30237576; 29302074; 31231135; 38228874; 31047799 Phenotypes for gene: ABCA2 were set to OMIM:618808.0; MONDO:0032930; ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia

DDG2P Gene: ABCA2