Hydrocephalus
Gene: CLIC2
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
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 AmberCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Only a single family to dateCreated: 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
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
Gene: clic2 has been classified as Red List (Low Evidence).
Publications for gene: CLIC2 were set to 22814392
Phenotypes for gene: CLIC2 were changed from ?Mental retardation, X-linked, syndromic 32 to ?Mental retardation, X-linked, syndromic 32, OMIM:300886
Source NHS GMS was added to CLIC2.
31.05.2017 - panel revised after internal curation and clinical review.
CLIC2 was added to Hydrocephaluspanel. Source: Expert Review Amber
CLIC2 was added to Hydrocephaluspanel. Sources: Literature
CLIC2 was created by helen.brittain