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Intellectual disability syndromic and non-syndromic

Gene: CRLF1

Red List (low evidence)

CRLF1 (cytokine receptor like factor 1)
EnsemblGeneIds (GRCh38): ENSG00000006016
EnsemblGeneIds (GRCh37): ENSG00000006016
OMIM: 604237, Gene2Phenotype
CRLF1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Intelligence is generally normal.
Created: 30 Nov 2019, 12:09 a.m. | Last Modified: 30 Nov 2019, 12:09 a.m.
Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cold-induced sweating syndrome 1, MIM#272430

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Cold-induced sweating syndrome 1, MIM#272430
OMIM
604237
Clinvar variants
Variants in CRLF1
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crlf1 has been classified as Red List (Low Evidence).

30 Nov 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430

30 Nov 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

30 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crlf1 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: CRLF1 was added gene: CRLF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CRLF1 was set to Unknown