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Intellectual disability syndromic and non-syndromic

Gene: CLIC2

Red List (low evidence)

CLIC2 (chloride intracellular channel 2)
EnsemblGeneIds (GRCh38): ENSG00000155962
EnsemblGeneIds (GRCh37): ENSG00000155962
OMIM: 300138, Gene2Phenotype
CLIC2 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Austim GCEP on 16/02/2021 - https://search.clinicalgenome.org/CCID:004469
Created: 13 May 2024, 3:42 a.m. | Last Modified: 13 May 2024, 3:42 a.m.
Panel Version: 0.5798

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

Phenotypes
X-linked complex neurodevelopmental disorder MONDO:0100148

Publications

  • https://search.clinicalgenome.org/CCID:004469

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported; other evidence comes from duplications.
Created: 27 Jan 2020, 4:23 a.m. | Last Modified: 27 Jan 2020, 4:23 a.m.
Panel Version: 0.1702

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

Phenotypes
Mental retardation, X-linked, syndromic 32, 300886

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability, X-linked, syndromic 32, 300886
Tags
disputed
OMIM
300138
Clinvar variants
Variants in CLIC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 May 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: CLIC2.

27 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLIC2 were set to

27 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

27 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLIC2 was added gene: CLIC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLIC2 was set to Unknown