Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.30 | GPN2 | Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Luke Stuart, there are now 2 pedigrees reported where individuals harbouring biallelic GPN2 variants presented with ataxia (2 sibs, age of onset not specified), and cerebellar atrophy (both families). Based on available evidence, this gene can only be rated Amber.; to: Comment on list classification: As reviewed by Luke Stuart, there are now 2 pedigrees reported where individuals harbouring biallelic GPN2 variants presented with ataxia (2 sibs, age of onset not specified), and cerebellar atrophy (both families). These families were found to have shared ancestry - counted as 1 family. Based on available evidence, this gene can only be rated Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.30 | GPN2 | Ida Ertmanska Tag founder-effect tag was added to gene: GPN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.30 | GPN2 | Ida Ertmanska Classified gene: GPN2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.30 | GPN2 | Ida Ertmanska Gene: gpn2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.27 | GPN2 | Achchuthan Shanmugasundram Phenotypes for gene: GPN2 were changed from Cerebellar ataxia (MONDO:0000437) to Cerebellar ataxia, MONDO:0000437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.21 | GPN2 | Ida Ertmanska Classified gene: GPN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.21 | GPN2 | Ida Ertmanska Added comment: Comment on list classification: As reviewed by Luke Stuart, there are now 2 pedigrees reported where individuals harbouring biallelic GPN2 variants presented with ataxia (2 sibs, age of onset not specified), and cerebellar atrophy (both families). Based on available evidence, this gene can only be rated Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.21 | GPN2 | Ida Ertmanska Gene: gpn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.13 | GPN2 |
Luke Stuart gene: GPN2 was added gene: GPN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: GPN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPN2 were set to 42392036 Phenotypes for gene: GPN2 were set to Cerebellar ataxia (MONDO:0000437) Review for gene: GPN2 was set to RED Added comment: Smith et al. 2026 (PMID 42392036) investigated a Perrault syndrome cohort via exome sequencing. Family F2 comprised two affected sisters with bilateral profound sensorineural hearing loss (SNHL), primary ovarian insufficiency (POI), and cerebellar ataxia. Brain MRI revealed cerebellar atrophy in both. Both were homozygous for GPN2 c.664A>G p.Asn222Asp. Family F3 comprised a single affected proband presenting with profound SNHL, primary amenorrhea, and mild intellectual disability, also homozygous for GPN2 c.664A>G p.Asn222Asp. Cerebellar atrophy was noted on brain MRI. N.B. Haplotype analysis in the affected members of families F2 and F3 revealed a shared homozygous region of 662 kb encompassing the GPN2 locus, indicative of a shared ancestor. Age at onset for affected probands is unknown, however age at last examination was in the 2nd or 3rd decade (supplemental data), suggesting early onset. Before this study, no Mendelian disease had been attributed to GPN2 or its paralogs, GPN1 and GPN3; no animal model exists supporting pathogenicity or delineating the potential mechanism. Conclusion: A single variant with potential founder effect is implicated in ataxia (n= 2 probands from 1 family)/ cerebellar atrophy (n=3 probands from 2 families); age of onset for the probands cited is unknown. Suggest red rating (low evidence). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||