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Intellectual disability

Gene: HNMT

No list

HNMT (histamine N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150540
EnsemblGeneIds (GRCh37): ENSG00000150540
OMIM: 605238, Gene2Phenotype
HNMT is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 individuals from two unrelated families, some functional evidence and other circumstantial evidence linking this gene to brain function. Borderline Amber/Green.
Sources: Expert list
Created: 7 Feb 2020, 2:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 51, MIM#616739

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Mental retardation, autosomal recessive 51, MIM#616739
OMIM
605238
Clinvar variants
Variants in HNMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HNMT was added gene: HNMT was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: HNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HNMT were set to 26206890; 30744146 Phenotypes for gene: HNMT were set to Mental retardation, autosomal recessive 51, MIM#616739 Review for gene: HNMT was set to GREEN