Cerebellar and Pontocerebellar Hypoplasia
Gene: HHAT

HHAT (hedgehog acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000054392
EnsemblGeneIds (GRCh37): ENSG00000054392
OMIM: 605743, Gene2Phenotype
HHAT is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.
Created: 19 Dec 2021, 6:42 a.m. | Last Modified: 19 Dec 2021, 6:42 a.m.

Panel Version: 1.21

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: Expert list
Created: 6 Dec 2020, 5:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nivelon-Nivelon-Mabille syndrome 600092

Publications

Created: 6 Dec 2020, 5:47 a.m.

Panel version: 1.21

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Nivelon-Nivelon-Mabille syndrome 600092

OMIM

605743

Clinvar variants

Variants in HHAT

Penetrance

None

Publications

Panels with this gene