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  3. CENPF
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: CENPF

Green List (high evidence)
CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 11 panels

2 reviews

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants reported in >3 families. Functional studies demonstrated the role of CENPF in ciliogenesis and ciliary function.

PMID: 25564561; Waters 2015; 2 families reported. Ciliopathy features such as cerebellar vermis hypoplasia and cleft palate reported in one family. Functional studies performed.
PMID: 28407396; Ozkinay 2017; 1 family reported. Brain MRI showed lissecephaly.
PMID: 26820108; Filges 2016; 2 families reported.
Created: 18 May 2020, 5:48 a.m. | Last Modified: 18 May 2020, 5:48 a.m.
Panel Version: 0.152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome (MIM#243605)

Publications

Created: 18 May 2020, 5:48 a.m.
Last Modified: 18 May 2020, 5:48 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.152

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CAKUT is part of the phenotype.
Sources: Expert list
Created: 28 Nov 2019, 5:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome, MIM#243605

Created: 28 Nov 2019, 5:13 a.m.

Panel version: 0.5

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Nov 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CENPF was added gene: CENPF was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605 Review for gene: CENPF was set to GREEN