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Intellectual disability syndromic and non-syndromic

Gene: HNMT

Green List (high evidence)

HNMT (histamine N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150540
EnsemblGeneIds (GRCh37): ENSG00000150540
OMIM: 605238, Gene2Phenotype
HNMT is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Verhoeven et al. 2020 (PMID: 33310825) report an adult male patient with severe intellectual disability and autism, born to second cousins, with a homozygous nonsense variant (c.88C>T; p.Gln30*). Treatment with antihistaminergic medication and a histamine-restricted diet resulted in significant general improvement, supporting an etiological role for HNMT deficiency. Taskiran et al. 2021 (PMID: 33739554) report an adult male patient with severe intellectual disability, pervasive developmental disorder and ADHD, born to consanguineous parents, with a homozygous nonsense variant (c.100G>T; p.Glu34*).
Created: 14 Aug 2021, 2:46 a.m. | Last Modified: 14 Aug 2021, 2:46 a.m.
Panel Version: 0.4052
7 individuals from two unrelated families, some functional evidence and other circumstantial evidence linking this gene to brain function.
Created: 4 Dec 2019, 11:42 p.m. | Last Modified: 4 Dec 2019, 11:42 p.m.
Panel Version: 0.394

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
  • Expert Review Green
  • Genetic Health Queensland
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

14 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HNMT were set to 26206890; 30744146

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hnmt has been classified as Green List (High Evidence).

4 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HNMT were changed from to Mental retardation, autosomal recessive 51, MIM#616739

4 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HNMT were set to

4 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HNMT was added gene: HNMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNMT was set to Unknown