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Intellectual disability

Gene: HNMT

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Amber rating as additional unrelated pedigrees are required before inclusion of HNMT on a diagnostic panel (added to watchlist).
Created: 30 Jul 2020, 8:24 a.m. | Last Modified: 30 Jul 2020, 8:24 a.m.
Panel Version: 3.207
Heidari et al. 2015 (PMID: 26206890) described seven affected individuals from two unrelated Turkish and Kurdish consanguineous families presenting with nonsyndromic mild-profound ID (1 mild, 1 moderate, 3 severe, 2 severe-profound). Homozygous missense variants (c.179G>A; p.Gly60Asp) and (c.632T>C; p.Leu208Pro) were identified which segregated with the phenotype in each family. Functional data was supportive of defects in HNMT function.
Created: 30 Jul 2020, 8:21 a.m. | Last Modified: 30 Jul 2020, 8:21 a.m.
Panel Version: 3.206

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Mental retardation, 616739

Publications

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
  • Expert Review Amber
Phenotypes
  • Mental retardation, autosomal recessive 51, MIM#616739
Tags
watchlist
OMIM
605238
Clinvar variants
Variants in HNMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

30 Jul 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: HNMT.

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