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Intellectual disability

Gene: RNF125

Green List (high evidence)

RNF125 (ring finger protein 125)
EnsemblGeneIds (GRCh38): ENSG00000101695
EnsemblGeneIds (GRCh37): ENSG00000101695
OMIM: 610432, Gene2Phenotype
RNF125 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New Green gene added by external expert review, who notes four reported families, support gene-disease association and rating of this gene to Green.
Created: 26 Jul 2018, 10:29 a.m.
A disease characterized by overgrowth, macrocephaly, and intellectual disability. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome.
Created: 26 Jul 2018, 10:28 a.m.
Comment on phenotypes: added OMIM MIMid
Created: 26 Jul 2018, 10:27 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six individuals from four families reported. ID is part of the phenotype.
Created: 22 Jun 2018, 2:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tenorio syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to RNF125.

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

26 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RNF125 were set to Tenorio syndrome, 616260; Intellectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

RNF125 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

RNF125 was created by Zornitza Stark