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Amelogenesis imperfecta
Gene: C4orf26

C4orf26 (odontogenesis associated phosphoprotein)
EnsemblGeneIds (GRCh38): ENSG00000174792
EnsemblGeneIds (GRCh37): ENSG00000174792
OMIM: 614829, Gene2Phenotype
C4orf26 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: New HGNC approved name: ODAPH
Created: 13 Aug 2021, 1:09 a.m. | Last Modified: 13 Aug 2021, 1:09 a.m.

Panel Version: 0.51

Ten unrelated families reported.
Created: 11 Aug 2021, 11:53 p.m. | Last Modified: 11 Aug 2021, 11:53 p.m.

Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA4, MIM# 614832

Publications

Created: 11 Aug 2021, 11:53 p.m.
Last Modified: 11 Aug 2021, 11:53 p.m.
Panel version: 0.8

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Amelogenesis Imperfecta, Type IIA4, MIM#614832
hypomineralized amelogenesis imperfecta

Tags

new gene name

OMIM

Clinvar variants

Variants in C4orf26

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c4orf26 has been classified as Green List (High Evidence).

13 Aug 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: C4orf26.

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c4orf26 has been classified as Green List (High Evidence).

11 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C4orf26 were changed from Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta to Amelogenesis Imperfecta, Type IIA4, MIM#614832; hypomineralized amelogenesis imperfecta

7 May 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C4orf26 was added gene: C4orf26 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C4orf26 were set to 22901946; 27558265 Phenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta