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Intellectual disability syndromic and non-syndromic

Gene: CWF19L1

Green List (high evidence)

CWF19L1 (CWF19 like 1, cell cycle control (S. pombe))
EnsemblGeneIds (GRCh38): ENSG00000095485
EnsemblGeneIds (GRCh37): ENSG00000095485
OMIM: 616120, Gene2Phenotype
CWF19L1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Created: 1 Feb 2020, 7:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, MIM#616127
  • intellectual disability, developmental delay
OMIM
616120
Clinvar variants
Variants in CWF19L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cwf19l1 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cwf19l1 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CWF19L1 was added gene: CWF19L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 25361784; 15981765; 26197978; 27016154; 30167849 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay Review for gene: CWF19L1 was set to GREEN gene: CWF19L1 was marked as current diagnostic