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  2. Ataxia and cerebellar anomalies - narrow panel
  3. ABCA2
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Ataxia and cerebellar anomalies - narrow panel

Gene: ABCA2

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

1 review

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber as only 2 unrelated families with ataxia and ABCA2 variants reported at present.
Created: 16 Nov 2020, 1:10 p.m. | Last Modified: 16 Nov 2020, 1:10 p.m.
Panel Version: 2.30
Associated with relevant phenotype in OMIM, but currently not in Gene2Phenotype.

At least 7 individuals from 4 unrelated families reported at present with different biallelic variants in the ABCA2 gene. Overlapping clinical features include psychomotor delay (6/7), microcephaly (3/7), ataxia (3/7), and epilepsy (2/7).

- Hu et al (PMID: 29302074) reported 3 sibs, of which one (III:2) was unable to walk and had ataxic gait.
- Aslam and Naz (PMID: 31047799) provided clinical details on 2 siblings, both of whom presented delayed ambulation, staggered gait ataxia, limb incoordination and dysarthria, but no abnormalities on brain MRI.
Sources: Literature
Created: 16 Nov 2020, 1:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM: 618808

Publications

Created: 16 Nov 2020, 1:09 p.m.

Panel version: 2.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808
  • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930
OMIM
600047
Clinvar variants
Variants in ABCA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ABCA2 were changed from Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM: 618808 to Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808; Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930

16 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: abca2 has been classified as Amber List (Moderate Evidence).

16 Nov 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: ABCA2 was added gene: ABCA2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA2 were set to 30237576; 29302074; 31047799 Phenotypes for gene: ABCA2 were set to Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM: 618808