Cerebral Palsy
Gene: ABHD16A
ABHD16A (abhydrolase domain containing 16A)
EnsemblGeneIds (GRCh38): ENSG00000204427
EnsemblGeneIds (GRCh37): ENSG00000204427
OMIM: 142620, Gene2Phenotype
ABHD16A is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000204427
EnsemblGeneIds (GRCh37): ENSG00000204427
OMIM: 142620, Gene2Phenotype
ABHD16A is in 8 panels
1 review
Clare van Eyk (University of Adelaide)
Single case with homozygous LP variant in ABHD16A, diagnosed with hypotonic-ataxic cerebral palsy with unclear cause (PMID: 38168508). SPG86 is associated with global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies.
Sources: LiteratureCreated: 26 Jun 2024, 4:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 86, autosomal recessive, MIM#619735
Publications
- PMID: 38168508
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spastic paraplegia 86, autosomal recessive, MIM#619735
- OMIM
- 142620
- Clinvar variants
- Variants in ABHD16A
- Penetrance
- None
- Publications
-
- PMID: 38168508
- Panels with this gene
History Filter Activity
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abhd16a has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abhd16a has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ABHD16A was added gene: ABHD16A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to PMID: 38168508 Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, MIM#619735 Review for gene: ABHD16A was set to RED