Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: ABHD16A

Amber List (moderate evidence)

ABHD16A (abhydrolase domain containing 16A)
EnsemblGeneIds (GRCh38): ENSG00000204427
EnsemblGeneIds (GRCh37): ENSG00000204427
OMIM: 142620, Gene2Phenotype
ABHD16A is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Evidence of gene-disease association with a complicated form of HSP, which includes other central features such as ID and corpus callosum abnormalities.

However, evidence that seizures are also part of the phenotype is more limited.
Created: 2 Dec 2023, 10:26 p.m. | Last Modified: 2 Dec 2023, 10:26 p.m.
Panel Version: 0.1947

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 86, autosomal recessive, MIM# 619735

John Coleman (Murdoch Children's Research Institute)

Red List (low evidence)

11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. ?Moderate
Sources: Literature
Created: 1 Dec 2023, 1:01 a.m. | Last Modified: 1 Dec 2023, 1:03 a.m.
Panel Version: 0.1947

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
seizures; myoclonic seizures; developmental delay

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 86, autosomal recessive, MIM# 619735
  • seizures
  • myoclonic seizures
  • developmental delay
OMIM
142620
Clinvar variants
Variants in ABHD16A
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

2 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Dec 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABHD16A were changed from seizures; myoclonic seizures; developmental delay to Spastic paraplegia 86, autosomal recessive, MIM# 619735; seizures; myoclonic seizures; developmental delay

2 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Dec 2023, Gel status: 0

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

John Coleman (Murdoch Children's Research Institute)

gene: ABHD16A was added gene: ABHD16A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to (PMID: 34587489,34489854; 32462874) Phenotypes for gene: ABHD16A were set to seizures; myoclonic seizures; developmental delay Penetrance for gene: ABHD16A were set to Incomplete Review for gene: ABHD16A was set to RED