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Skeletal dysplasia

Gene: HHAT

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HHAT (hedgehog acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000054392
EnsemblGeneIds (GRCh37): ENSG00000054392
OMIM: 605743, Gene2Phenotype
HHAT is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Literature
Created: 9 Dec 2020, 7:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nivelon-Nivelon-Mabille syndrome 600092

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome 600092
OMIM
605743
Clinvar variants
Variants in HHAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HHAT was added gene: HHAT was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HHAT were set to 24784881; 30912300 Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092 Review for gene: HHAT was set to AMBER