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  3. RNF216
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Hypogonadotropic hypogonadism (GMS)

Gene: RNF216

Green List (high evidence)
RNF216 (ring finger protein 216)
EnsemblGeneIds (GRCh38): ENSG00000011275
EnsemblGeneIds (GRCh37): ENSG00000011275
OMIM: 609948, Gene2Phenotype
RNF216 is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 10 Dec 2025, 2:48 p.m. | Last Modified: 10 Dec 2025, 2:48 p.m.
Panel Version: 4.3
Created: 10 Dec 2025, 2:48 p.m.
Last Modified: 10 Dec 2025, 2:48 p.m.
Panel version: 4.3

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39444518 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 26 Feb 2025, 12:09 p.m. | Last Modified: 26 Feb 2025, 12:09 p.m.
Panel Version: 3.24
RNF216 variants are associated with Cerebellar ataxia and hypogonadotropic hypogonadism (OMIM:212840). At least seven RNF216 variants have been reported in five unrelated cases of OMIM:212840 (PMID: 39444518; 23656588;25841028).
Sources: Literature
Created: 26 Feb 2025, 12:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840; cerebellar ataxia-hypogonadism syndrome, MONDO:0008935

Publications

Created: 26 Feb 2025, 12:08 p.m.

Panel version: 3.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
  • cerebellar ataxia-hypogonadism syndrome, MONDO:0008935
OMIM
609948
Clinvar variants
Variants in RNF216
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2025, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: RNF216.

10 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to RNF216. Source NHS GMS was added to RNF216. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

26 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rnf216 has been classified as Amber List (Moderate Evidence).

26 Feb 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RNF216 were set to 39444518; 23656588; 25841028

26 Feb 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: RNF216 was added gene: RNF216 was added to Hypogonadotropic hypogonadism (GMS). Sources: Literature Q1_25_ promote_green tags were added to gene: RNF216. Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF216 were set to 39444518; 23656588; 25841028 Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840; cerebellar ataxia-hypogonadism syndrome, MONDO:0008935 Review for gene: RNF216 was set to GREEN