Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: RNF125

Green List (high evidence)

RNF125 (ring finger protein 125)
EnsemblGeneIds (GRCh38): ENSG00000101695
EnsemblGeneIds (GRCh37): ENSG00000101695
OMIM: 610432, Gene2Phenotype
RNF125 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.
Created: 16 Apr 2021, 3:25 p.m. | Last Modified: 16 Apr 2021, 3:25 p.m.
Panel Version: 1.107

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported, overgrowth is a key feature.
Sources: Expert list
Created: 4 Jul 2020, 11:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tenorio syndrome, MIM# 616260

Publications

Details

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

History Filter Activity

16 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

4 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RNF125 was added gene: RNF125 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF125 were set to 25196541 Phenotypes for gene: RNF125 were set to Tenorio syndrome, MIM# 616260 Review for gene: RNF125 was set to GREEN