Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: RNF125Comment 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
At least 3 unrelated families reported, overgrowth is a key feature.
Sources: Expert listCreated: 4 Jul 2020, 11:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tenorio syndrome, MIM# 616260
Publications
Gene: rnf125 has been classified as Green List (High Evidence).
Phenotypes for gene: RNF125 were changed from Tenorio syndrome, MIM# 616260 to Tenorio syndrome, OMIM:616260
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