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Intellectual disability

Gene: HTT

Amber List (moderate evidence)

HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 17 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

For the ID panel, Lopes-Maciel-Rodan syndrome is relevant and not Huntington Disease. Two unrelated families currently reported for Lopes-Maciel-Rodan syndrome, therefore rating status made amber at this time and added the 'watchlist' tag in case further cases are reported. If this gene were to become green, it is SNVs that should be reported for Lopes-Maciel-Rodan syndrome, and not expansion repeats which cause Huntington disease. Not in Gene2Phenotype gene lists.

Created: 19 Sep 2017, 8:38 a.m.
Comment on mode of inheritance: Biallelic SNVs have been reported for Lopes-Maciel-Rodan syndrome.
Created: 19 Sep 2017, 7:57 a.m.

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_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 27 Jul 2017, 6:43 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : manju_list; UKGTN_v12; neuro_20160418_strict; NA. 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, 12:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Personal communication with NIHRBRRD BRIDGE SPEED
  • Version 12 ukgtn.nhs.uk

Louise Daugherty (Genomics England Curator)

I don't know

Clinical presentation significantly overlapping Rett syndrome (RTT) often presenting with severe intellectual disability (ID). LOMARS is an autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures.To date only 4 patients from two unrelated families have been reported in the literature with Lopes-Maciel-Rodan syndrome caused by variants in HTT.
Created: 5 Jan 2018, 2:42 p.m.
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, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lopes-Maciel-Rodan syndrome, 617435; LOMARS; Intellectual disability

Publications

History Filter Activity

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.

19 Sep 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

19 Sep 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HTT was changed to BIALLELIC, autosomal or pseudoautosomal

19 Sep 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HTT were set to 26740508;27329733

19 Sep 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HTT were set to Lopes-Maciel-Rodan syndrome 617435

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)

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

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

HTT was created by BRIDGE