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Intellectual disability

Gene: HINT1

Amber List (moderate evidence)
HINT1 (histidine triad nucleotide binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000169567
EnsemblGeneIds (GRCh37): ENSG00000169567
OMIM: 601314, Gene2Phenotype
HINT1 is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID: 39596683 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 25 Mar 2025, 10:07 a.m. | Last Modified: 25 Mar 2025, 10:07 a.m.
Panel Version: 8.187
Biallelic HINT1 variant are associated with Neuromyotonia and axonal neuropathy, autosomal recessive, (OMIM:137200)(PMID: 22961002;34694653). PMID: 39596683 reports two HINT1 variants in a pair of brothers with axonal neuropathy. Amongst other symptoms, the elder brother had mild intellectual disability and the younger one had moderated intellectual disability.
Created: 24 Mar 2025, 2:35 p.m. | Last Modified: 24 Mar 2025, 2:35 p.m.
Panel Version: 8.177

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuromyotonia and axonal neuropathy, autosomal recessive, OMIM:137200; Gamstorp-Wohlfart syndrome, MONDO:0007646

Created: 24 Mar 2025, 2:35 p.m.
Last Modified: 24 Mar 2025, 2:35 p.m.
Panel version: 8.177

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 6:34 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 6:58 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 11:57 a.m.
Created: 20 Jul 2017, 11:57 a.m.

Panel version: 1.202

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, OMIM:137200
  • Gamstorp-Wohlfart syndrome, MONDO:0007646
OMIM
601314
Clinvar variants
Variants in HINT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HINT1 were set to 22961002; 34694653; 39596683

24 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HINT1 were set to 22961002; 34694653; 39596683

24 Mar 2025, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HINT1 were changed from Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 to Neuromyotonia and axonal neuropathy, autosomal recessive, OMIM:137200; Gamstorp-Wohlfart syndrome, MONDO:0007646

24 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HINT1 were set to

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

HINT1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

HINT1 was created by BRIDGE