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Fetal anomalies

Gene: ABHD16A

Amber List (moderate evidence)
ABHD16A (abhydrolase domain containing 16A)
EnsemblGeneIds (GRCh38): ENSG00000204427
EnsemblGeneIds (GRCh37): ENSG00000204427
OMIM: 142620, Gene2Phenotype
ABHD16A is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Chandler (North Thames GLH)

I don't know

PMID:34489854: 5 Sudanese cases - 2 pairs of siblings and 1 singleton all mentioned to have uneventful pregnancy; PMID:34866177:2 Chilean siblings both noted to have uneeventful perinatal couse; PMID:34587489: MRI findings: Thin copus collosum13/15, white matter abnormal intensity 13/17 characteristic face (long face, prominent nose, flat chin, low set ears); 8/11 joint contractures; Skeletal deformities (bliateral pes eqeuinovalgus and scoliosis) 13/17. Amber - no evidence of prenatal onset yet.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 86, autosomal recessive, OMIM:619735

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 86, autosomal recessive, OMIM:619735
OMIM
142620
Clinvar variants
Variants in ABHD16A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ABHD16A was added gene: ABHD16A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34866177; 34489854; 34587489 Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, OMIM:619735