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Intellectual disability

Gene: ABHD16A

Amber List (moderate evidence)

ABHD16A (abhydrolase domain containing 16A)
EnsemblGeneIds (GRCh38): ENSG00000204427
EnsemblGeneIds (GRCh37): ENSG00000204427
OMIM: 142620, Gene2Phenotype
ABHD16A is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 unrelated cases, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 13 Oct 2021, 3:10 p.m. | Last Modified: 13 Oct 2021, 3:10 p.m.
Panel Version: 3.1359

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.
In 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.
4 missense variants, 1 frameshift, 1 nonsense.
Sources: Literature
Created: 11 Oct 2021, 9:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia; Intellectual disability

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia
  • Intellectual disability
Tags
Q4_21_rating
OMIM
142620
Clinvar variants
Variants in ABHD16A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: ABHD16A.

13 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: abhd16a has been classified as Amber List (Moderate Evidence).

11 Oct 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ABHD16A was added gene: ABHD16A was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34587489 Phenotypes for gene: ABHD16A were set to Spastic paraplegia; Intellectual disability Review for gene: ABHD16A was set to GREEN gene: ABHD16A was marked as current diagnostic