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Mendeliome

Gene: CPSF1

Green List (high evidence)

CPSF1 (cleavage and polyadenylation specific factor 1)
EnsemblGeneIds (GRCh38): ENSG00000071894
EnsemblGeneIds (GRCh37): ENSG00000071894
OMIM: 606027, Gene2Phenotype
CPSF1 is in 1 panel

1 review

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (PMID: 30689892).
Sources: Literature
Created: 20 Apr 2020, 5:05 a.m. | Last Modified: 20 Apr 2020, 5:05 a.m.
Panel Version: 0.2401

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopia 27, 618827; high myopia; early-onset high myopia; high myopia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myopia 27, 618827
  • high myopia
  • early-onset high myopia
OMIM
606027
Clinvar variants
Variants in CPSF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CPSF1 were changed from Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia to Myopia 27, 618827; high myopia; early-onset high myopia

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cpsf1 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cpsf1 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 0

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

Kristin Rigbye (Victorian Clinical Genetics Services)

gene: CPSF1 was added gene: CPSF1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CPSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CPSF1 were set to 30689892 Phenotypes for gene: CPSF1 were set to Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia Review for gene: CPSF1 was set to GREEN