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Fetal anomalies

Gene: CENPF

Green List (high evidence)

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple congenital anomalies syndrome, more than 3 unrelated families reported.
Created: 10 Dec 2021, 5 a.m. | Last Modified: 10 Dec 2021, 5 a.m.
Panel Version: 0.1193

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome (MIM#243605)

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

*Several Stromme syndrome patients reported with microcephaly however only the following were genetically confirmed.

PMID: 31953238
- 2 siblings from a consanguineous Saudi family
- Patient 1: head circumference -3.33 SD (44cm) at 3 years and -4.4 SD (45.5cm) at 6 years
- Patient 2: +5.07 SD (39.5cm) at birth and +8.99 SD (49cm) at 2 months
- homozygous splice variant

PMID: 28407396
- 1x proband with head circumference -6.29 SD (at birth) and -7.57 SD at 18 months
- homozygous fs variant

PMID: 25564561;
- 1x proband with OFC <0.4 centile (29.5cm) at birth and adult OFC of <0.4 centile (45.5cm)
- cHet for 2x nonsense variants

PMID: 27300082 ;
- 1x proband with OFC <3rd centile
- chet for PTVs
Sources: Literature
Created: 2 Sep 2020, 3:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome (MIM#243605)

Publications

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Stromme syndrome is well reported as a ciliopathy phenotype with some overlapping JS features although does not seem to be consistent between patients. Amber for this panel

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.
Sources: Expert Review
Created: 18 May 2020, 5:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome (MIM#243605)

Publications

Details

History Filter Activity

10 Dec 2021, 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).

10 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605 to Stromme syndrome, MIM#243605

10 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CENPF were set to 25564561; PMID: 26820108

10 Dec 2021, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CENPF was added gene: CENPF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 25564561; PMID: 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, 243605