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Mendeliome

Gene: HAT1

Red List (low evidence)

HAT1 (histone acetyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000128708
EnsemblGeneIds (GRCh37): ENSG00000128708
OMIM: 603053, Gene2Phenotype
HAT1 is in 1 panel

1 review

Monique Dunstan (Other)

I don't know

Comment on phenotypes: wkaesdC
esjhdbcmzx
Created: 17 Feb 2025, 10:50 p.m. | Last Modified: 17 Feb 2025, 10:50 p.m.
Panel Version: 1.2303
mjsfgzdckz.x,n efks.dzjhk. liuksweF<KDCjz lukESABJFC
Sources: UKGTN
Created: 17 Feb 2025, 10:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
sajhavscz

Publications

  • PMID:716253

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • UKGTN
Phenotypes
  • sajhavscz
Tags
SV/CNV STR refuted
OMIM
603053
Clinvar variants
Variants in HAT1
Penetrance
Complete
Publications
  • PMID:716253
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

17 Feb 2025, Gel status: 1

Set Phenotypes

Monique Dunstan (Other)

Phenotypes for gene: HAT1 were changed from sajhavscz to sajhavscz

17 Feb 2025, Gel status: 1

Added Tag, Added Tag

Monique Dunstan (Other)

Tag STR tag was added to gene: HAT1. Tag refuted tag was added to gene: HAT1.

17 Feb 2025, Gel status: 1

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

Monique Dunstan (Other)

gene: HAT1 was added gene: HAT1 was added to Mendeliome. Sources: UKGTN SV/CNV tags were added to gene: HAT1. Mode of inheritance for gene: HAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: HAT1 were set to PMID:716253 Phenotypes for gene: HAT1 were set to sajhavscz Penetrance for gene: HAT1 were set to Complete Mode of pathogenicity for gene: HAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: HAT1 was set to AMBER