Ataxia and cerebellar anomalies - narrow panel
Gene: ABCA2Comment 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: LiteratureCreated: 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
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
Gene: abca2 has been classified as Amber List (Moderate Evidence).
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