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DDG2P

Gene: RNF135

Red List (low evidence)

RNF135 (ring finger protein 135)
EnsemblGeneIds (GRCh38): ENSG00000181481
EnsemblGeneIds (GRCh37): ENSG00000181481
OMIM: 611358, Gene2Phenotype
RNF135 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192
OMIM
611358
Clinvar variants
Variants in RNF135
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: RNF135 was added gene: RNF135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF135 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF135 were set to 17632510 Phenotypes for gene: RNF135 were set to MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192