Adult onset leukodystrophy
Gene: RNF216
Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel at the next major review.Created: 8 Aug 2023, 2:05 p.m. | Last Modified: 8 Aug 2023, 2:05 p.m.
Panel Version: 3.13
RNF216 variants are associated with Cerebellar ataxia and hypogonadotropic hypogonadism (OMIM:212840), previously known as Gordon Holmes syndrome (GDHS). No phenotype was associated with RNF216 in Gen2Phen.
At least six variants have been reported in four unrelated cases of OMIM:212840. Three of these variants, in four individuals from two unrelated families, have been associated with a variant of GDHS. The variant GDHS includes Huntingtons-like features including white matter lesions (PMID: 25841028).Created: 8 Aug 2023, 1:30 p.m. | Last Modified: 8 Aug 2023, 1:39 p.m.
Panel Version: 3.12
Publications
Can only find two unrelated cases reported with white matter changes.Created: 21 Jun 2020, 6:39 a.m. | Last Modified: 21 Jun 2020, 6:39 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_23_expert_review tag was added to gene: RNF216.
Gene: rnf216 has been classified as Green List (High Evidence).
Tag Q3_23_demote_amber tag was added to gene: RNF216.
Phenotypes for gene: RNF216 were changed from Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Mode of inheritance for gene RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216
Publications for gene RNF216 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to RNF216. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to RNF216.
gene: RNF216 was added gene: RNF216 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: RNF216 was set to