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Intellectual disability

Gene: GLYCTK

Green List (high evidence)

GLYCTK (glycerate kinase)
EnsemblGeneIds (GRCh38): ENSG00000168237
EnsemblGeneIds (GRCh37): ENSG00000168237
OMIM: 610516, Gene2Phenotype
GLYCTK is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

'treatable' tag, as intervention with a fructose-restricted diet may lead to clinical improvement - PMID:3588091.
Created: 16 Mar 2017, 2:46 p.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 16 Mar 2017, 2:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-glyceric aciduria 220120

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • D-glyceric aciduria 220120
Tags
treatable
OMIM
610516
Clinvar variants
Variants in GLYCTK
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to GLYCTK.

12 Mar 2018, Gel status: 3

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.

16 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GLYCTK was added to Intellectual disabilitypanel. Sources: Expert Review

16 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GLYCTK was created by sleigh