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  2. Congenital ophthalmoplegia
  3. REV3L
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Congenital ophthalmoplegia

Gene: REV3L

Green List (high evidence)
REV3L (REV3 like, DNA directed polymerase zeta catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000009413
EnsemblGeneIds (GRCh37): ENSG00000009413
OMIM: 602776, Gene2Phenotype
REV3L is in 2 panels

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

de novo variants in 3 unrelated individuals with möbius syndrome and some functional evidence
Sources: Literature
Created: 2 Nov 2020, 1:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
möbius syndrome

Publications

Created: 2 Nov 2020, 1:41 p.m.

Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Möbius syndrome
OMIM
602776
Clinvar variants
Variants in REV3L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rev3l has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: REV3L were changed from möbius syndrome to Möbius syndrome

2 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rev3l has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 0

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

gene: REV3L was added gene: REV3L was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: REV3L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REV3L were set to PMID: 26068067 Phenotypes for gene: REV3L were set to möbius syndrome Review for gene: REV3L was set to GREEN