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  3. RNF125
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Overgrowth

Gene: RNF125

Green List (high evidence)
RNF125 (ring finger protein 125)
EnsemblGeneIds (GRCh38): ENSG00000101695
EnsemblGeneIds (GRCh37): ENSG00000101695
OMIM: 610432, Gene2Phenotype
RNF125 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported, overgrowth is a key feature.
Created: 4 Jul 2020, 11:07 a.m. | Last Modified: 4 Jul 2020, 11:10 a.m.
Panel Version: 0.54

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tenorio syndrome, MIM# 616260

Publications

Created: 4 Jul 2020, 11:07 a.m.
Last Modified: 4 Jul 2020, 11:10 a.m.
Panel version: 0.51

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tenorio syndrome, MIM# 616260
OMIM
610432
Clinvar variants
Variants in RNF125
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf125 has been classified as Green List (High Evidence).

4 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNF125 were changed from to Tenorio syndrome, MIM# 616260

4 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNF125 were set to

4 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNF125 was added gene: RNF125 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNF125 was set to Unknown