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Mendeliome

Gene: C2orf71

Green List (high evidence)

C2orf71 (chromosome 2 open reading frame 71)
EnsemblGeneIds (GRCh38): ENSG00000179270
EnsemblGeneIds (GRCh37): ENSG00000179270
OMIM: 613425, Gene2Phenotype
C2orf71 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

New gene name - PCARE HGNC:34383
Created: 6 May 2024, 2:40 a.m. | Last Modified: 6 May 2024, 2:40 a.m.
Panel Version: 1.1770

Phenotypes
PCARE-related retinopathy MONDO:0800404

Publications

  • https://search.clinicalgenome.org/CCID:005738

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported; animal model.
Created: 30 Dec 2021, 9:31 a.m. | Last Modified: 30 Dec 2021, 9:31 a.m.
Panel Version: 0.10420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 54, MIM# 613428

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 54, MIM# 613428
Tags
new gene name
OMIM
613425
Clinvar variants
Variants in C2orf71
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: C2orf71.

30 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c2orf71 has been classified as Green List (High Evidence).

30 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C2orf71 were changed from to Retinitis pigmentosa 54, MIM# 613428

30 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C2orf71 were set to

30 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: C2orf71 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C2orf71 was added gene: C2orf71 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C2orf71 was set to Unknown