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Hydrocephalus

Gene: CLIC2

Red List (low evidence)
CLIC2 (chloride intracellular channel 2)
EnsemblGeneIds (GRCh38): ENSG00000155962
EnsemblGeneIds (GRCh37): ENSG00000155962
OMIM: 300138, Gene2Phenotype
CLIC2 is in 3 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Three CLIC2 variants have been reported in Intellectual developmental disorder, X-linked, syndromic 32, OMIM:300886 cases. In the opinion of the ClinGen Intellectual Disability and Autism Working Group (2/16/2021), there is not sufficient evidence for this gene/disease association (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e8ec6b8-5189-43eb-a741-833c77e7ce91-2021-02-16T170000.000Z) Therefore this gene should be demoted to Red within PanelApp.
Created: 12 Apr 2022, 1:16 p.m. | Last Modified: 12 Apr 2022, 1:16 p.m.
Panel Version: 2.127

Publications

Created: 12 Apr 2022, 1:16 p.m.
Last Modified: 12 Apr 2022, 1:16 p.m.
Panel version: 2.127

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

Helen Brittain (Genomics England Curator)

I don't know

Only a single family to date
Created: 9 May 2017, 1:22 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
?Mental retardation, X-linked, syndromic 32

Publications

Created: 9 May 2017, 1:22 p.m.

Panel version: 0.58

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886
Tags
watchlist
OMIM
300138
Clinvar variants
Variants in CLIC2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Feb 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CLIC2 were changed from ?Mental retardation, X-linked, syndromic 32, OMIM:300886 to Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886

12 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: clic2 has been classified as Red List (Low Evidence).

12 Apr 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CLIC2 were set to 22814392

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CLIC2 were changed from ?Mental retardation, X-linked, syndromic 32 to ?Mental retardation, X-linked, syndromic 32, OMIM:300886

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CLIC2.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CLIC2 was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

CLIC2 was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

CLIC2 was created by helen.brittain