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  3. HHAT
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Structural eye disease

Gene: HHAT

Green List (high evidence)
HHAT (hedgehog acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000054392
EnsemblGeneIds (GRCh37): ENSG00000054392
OMIM: 605743, Gene2Phenotype
HHAT is in 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 3:59 p.m. | Last Modified: 30 Jan 2023, 3:59 p.m.
Panel Version: 2.3
Created: 30 Jan 2023, 3:59 p.m.
Last Modified: 30 Jan 2023, 3:59 p.m.
Panel version: 2.3

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Pande et al:girl with multiple congenital anomalies including microphthalmia/anophthalmia with a homozygous inframe deletion (parents het), two siblings with similar phenotype were stillborn, not tested. Callier et al. 2014 describe two affected siblings, one with iris malformation and optic disc coloboma with a homozygous missense variant, het in parents. Dennis et al. 2012 mouse model with microphthalmia.
Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nivelon-Nivelon-Mabille syndrome 600092

Publications

Created: 20 Jan 2022, 11:38 a.m.
Last Modified: 20 Jan 2022, 11:38 a.m.
Panel version: 1.101

Ivone Leong (Genomics England Curator)

I don't know

Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 18 May 2022, 1:55 p.m. | Last Modified: 18 May 2022, 1:55 p.m.
Panel Version: 1.125
Sources: Expert list
Created: 20 Jan 2022, 11:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nivelon-Nivelon-Mabille syndrome, OMIM:600092

Publications

Created: 20 Jan 2022, 11:21 a.m.

Panel version: 1.95

Details

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

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_rating was removed from gene: HHAT. Tag Q1_22_NHS_review was removed from gene: HHAT.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to HHAT. Source NHS GMS was added to HHAT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 May 2022, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

18 May 2022, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: HHAT.

20 Jan 2022, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: HHAT was added gene: HHAT was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: HHAT. Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HHAT were set to 33749989; 24784881 Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092 Review for gene: HHAT was set to AMBER