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Intellectual disability

Gene: ADK

Green List (high evidence)

ADK (adenosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000156110
EnsemblGeneIds (GRCh37): ENSG00000156110
OMIM: 102750, Gene2Phenotype
ADK is in 4 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 2:03 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

At least 3 variants as homozygotes, together with functional studies showing reduction of normal expression by variants
Created: 31 Oct 2017, 9:57 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency 614300
OMIM
102750
Clinvar variants
Variants in ADK
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

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.

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to ADK. Panel: Intellectual disability

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ADK was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene ADK was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ADK was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen