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Hereditary ataxia v1.332 FGF14 Evan Reid reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMC10844931; Phenotypes: Adult onset cerebellar ataxia, adult onsent episodic ataxia, cerebellar oculomotor disturbances, vestibulopathy, peripheral neuropathy, dysautonomia, spasticity, parkinsonism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia v1.332 PRICKLE1 Arina Puzriakova Phenotypes for gene: PRICKLE1 were changed from Progressive Myoclonus Epilepsy with Ataxia to Epilepsy, progressive myoclonic 1B, OMIM:612437
Hereditary ataxia v1.331 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Hereditary ataxia v1.331 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary ataxia v1.331 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491 to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Hereditary ataxia v1.330 DAGLA Achchuthan Shanmugasundram changed review comment from: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All nine children had ataxia and the age of these children ranged between 4 and 15 years of age. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.; to: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All nine children had ataxia and the age of these children ranged between 4 and 15 years of age. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Hereditary ataxia v1.330 DAGLA Achchuthan Shanmugasundram Classified gene: DAGLA as Green List (high evidence)
Hereditary ataxia v1.330 DAGLA Achchuthan Shanmugasundram Added comment: Comment on list classification: There are eight unrelated cases associating monoallelic variants in DAGLA with ataxia. Hence, this gene can be rated Green.
Hereditary ataxia v1.330 DAGLA Achchuthan Shanmugasundram Gene: dagla has been classified as Green List (High Evidence).
Hereditary ataxia v1.329 DAGLA Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from developmental delay; ataxia; complex oculomotor abnormality to Ataxia, HP:0001251
Hereditary ataxia v1.328 DAGLA Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary ataxia v1.327 DAGLA Achchuthan Shanmugasundram Publications for gene: DAGLA were set to PMID: 35737950
Hereditary ataxia v1.326 DAGLA Achchuthan Shanmugasundram reviewed gene: DAGLA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35737950; Phenotypes: Ataxia, HP:0001251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia v1.326 DAGLA Irina Ziravecka gene: DAGLA was added
gene: DAGLA was added to Hereditary ataxia. Sources: Literature
Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAGLA were set to PMID: 35737950
Phenotypes for gene: DAGLA were set to developmental delay; ataxia; complex oculomotor abnormality
Mode of pathogenicity for gene: DAGLA was set to Other
Review for gene: DAGLA was set to GREEN
Added comment: PMID: 35737950 - nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype.
Sources: Literature
Hereditary ataxia v1.326 DMXL2 Arina Puzriakova Mode of inheritance for gene: DMXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.325 DMXL2 Arina Puzriakova Publications for gene: DMXL2 were set to 27657680; 22875945; 25248098
Hereditary ataxia v1.324 DMXL2 Arina Puzriakova Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome , OMIM:616113 to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
Hereditary ataxia v1.323 DMXL2 Arina Puzriakova Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; ORPHA90636; OMIM:612186 to ?Polyendocrine-polyneuropathy syndrome , OMIM:616113
Hereditary ataxia v1.322 DMXL2 Arina Puzriakova Classified gene: DMXL2 as Red List (low evidence)
Hereditary ataxia v1.322 DMXL2 Arina Puzriakova Added comment: Comment on list classification: Downgraded from Amber to Red. Ataxia (onset in adolescence) has only been reported in one consanguineous family to date (PMID: 25248098) and this finding has not since been replicated. Therefore demoting the gene rating, inline with review by Dmitrijs Rots.
Hereditary ataxia v1.322 DMXL2 Arina Puzriakova Gene: dmxl2 has been classified as Red List (Low Evidence).
Hereditary ataxia v1.321 SPG7 Sarah Leigh Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary ataxia v1.320 SPG7 Sarah Leigh Publications for gene: SPG7 were set to PMID: 25681447
Hereditary ataxia v1.319 SPG7 Sarah Leigh Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia v1.318 SPG7 Sarah Leigh reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: 9635427, 16534102, 17646629, 18200586, 20186691, 22571692; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia v1.318 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Hereditary ataxia v1.317 NFASC Sarah Leigh edited their review of gene: NFASC: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three cases of OMIM:618356, where early onset ataxia is part of the phenotype (PMID: 30850329, 31608123, 31501903).; Changed rating: GREEN
Hereditary ataxia v1.317 NFASC Sarah Leigh Classified gene: NFASC as Green List (high evidence)
Hereditary ataxia v1.317 NFASC Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Hereditary ataxia v1.317 NFASC Sarah Leigh Gene: nfasc has been classified as Green List (High Evidence).
Hereditary ataxia v1.316 NFASC Sarah Leigh Publications for gene: NFASC were set to PMID: 30850329, 31608123, 31501903
Hereditary ataxia v1.315 NFASC Sarah Leigh Phenotypes for gene: NFASC were changed from Cerebellar ataxia, Demyelinating neuropathy to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
Hereditary ataxia v1.314 NFASC Edoardo Monfrini gene: NFASC was added
gene: NFASC was added to Hereditary ataxia. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to PMID: 30850329, 31608123, 31501903
Phenotypes for gene: NFASC were set to Cerebellar ataxia, Demyelinating neuropathy
Penetrance for gene: NFASC were set to Complete
Review for gene: NFASC was set to GREEN
gene: NFASC was marked as current diagnostic
Added comment: Sources: Literature
Hereditary ataxia v1.314 UCHL1 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous UCHL1 variants have been reported, including 13 heterozygous loss-of-function variants (15 families) and a heterozygous inframe insertion (3 families) in PMID: 35986737. These affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous UCHL1 variants have been reported, including 13 heterozygous loss-of-function variants (15 families) and a heterozygous inframe insertion (3 families) in PMID: 35986737. The affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).
Hereditary ataxia v1.314 UCHL1 Sarah Leigh edited their review of gene: UCHL1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous UCHL1 variants have been reported, including 13 heterozygous loss-of-function variants (15 families) and a heterozygous inframe insertion (3 families) in PMID: 35986737. These affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia v1.314 UCHL1 Sarah Leigh Added comment: Comment on mode of inheritance: In addition to previous reports of Spastic paraplegia 79, autosomal recessive (OMIM:615491), PMID: 35986737 reports a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy in cases with heterozygous loss of function UCHL1 variants.
Hereditary ataxia v1.314 UCHL1 Sarah Leigh Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia v1.313 UCHL1 Samuel McCall reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35986737; Phenotypes: spasticity, ataxia, neuropathy, optic atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary ataxia v1.313 DMXL2 Dmitrijs Rots reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia v1.313 COG5 Arina Puzriakova Added comment: Comment on mode of inheritance: All cases reported to date have been associated with recessive inheritance with the exception of one family with "one potential heterozygous mutation" reported in 2017 (PMID: 28960046). As no further monoallelic cases have been reported since, updating the MOI from 'both mono- and biallelic' to 'biallelic' only until further evidence emerges supporting pathogenicity of heterozygous variants in this gene.
Hereditary ataxia v1.313 COG5 Arina Puzriakova Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.312 FMR1 Arina Puzriakova Classified gene: FMR1 as Red List (low evidence)
Hereditary ataxia v1.312 FMR1 Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red as the disease mechanism is repeat expansion and SNVs are not relevant to FXTAS.
Hereditary ataxia v1.312 FMR1 Arina Puzriakova Gene: fmr1 has been classified as Red List (Low Evidence).
Hereditary ataxia v1.311 GRM1 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic'. At least two unrelated cases in literature characterised by AD adult-onset ataxia and supported by functional data, plus additional patients mentioned in Tracy Lester patient cohort.
Hereditary ataxia v1.311 GRM1 Arina Puzriakova Mode of inheritance for gene: GRM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia v1.310 GRM1 Arina Puzriakova reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223, 36140834, 28886343; Phenotypes: Spinocerebellar ataxia 44, OMIM:617691, Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia v1.310 GRM1 Arina Puzriakova Publications for gene: GRM1 were set to
Hereditary ataxia v1.309 GRM1 Arina Puzriakova Phenotypes for gene: GRM1 were changed from Spinocerebellar ataxia, autosomal recessive 13 to Spinocerebellar ataxia 44, OMIM:617691; Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831
Hereditary ataxia v1.308 STUB1 Sarah Leigh Added comment: Comment on mode of inheritance: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous STUB1 variants have been reported in both Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 and Spinocerebellar ataxia 48, OMIM:618093. PMIDs 34906452; 35493319 report digenic occurrence of heterozygous STUB1 variants, with TBP_CAG expansions of 41-46. They question the validy of Spinocerebellar ataxia 48 (OMIM:618093) as a condition and whether it should be included into Spinocerebellar ataxia 17 (OMIM:607136).
Hereditary ataxia v1.308 STUB1 Sarah Leigh Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia v1.307 TBP_CAG Sarah Leigh Publications for STR: TBP_CAG were set to 20301611
Hereditary ataxia v1.306 STUB1 Sarah Leigh Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16 to Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768; autosomal recessive spinocerebellar ataxia 16, MONDO:0014339; Spinocerebellar ataxia 48, OMIM:618093; spinocerebellar ataxia 48, MONDO:0032526
Hereditary ataxia v1.305 STUB1 Sarah Leigh Publications for gene: STUB1 were set to
Hereditary ataxia v1.304 UCHL1 Sarah Leigh Publications for gene: UCHL1 were set to 23359680; 28007905; 29735986; 32656641; 11555633; 33159930
Hereditary ataxia v1.303 MARS2 Sarah Leigh Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, OMIM:611390
Hereditary ataxia v1.302 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Hereditary ataxia v1.302 FMR1 Dmitrijs Rots reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia v1.302 SETX Sarah Leigh Phenotypes for gene: SETX were changed from ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Hereditary ataxia v1.301 SETX Sarah Leigh reviewed gene: SETX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.301 AFG3L2 Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Hereditary ataxia v1.300 SPTBN2 Arina Puzriakova Phenotypes for gene: SPTBN2 were changed from Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 to Spinocerebellar ataxia 5, OMIM:600224; Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Hereditary ataxia v1.299 ISCA-37478-Gain Eleanor Williams commented on Region: ISCA-37478-Gain
Hereditary ataxia v1.299 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Hereditary ataxia v1.299 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss
Hereditary ataxia v1.299 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Hereditary ataxia v1.299 ISCA-37478-Gain Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Hereditary ataxia v1.299 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Hereditary ataxia v1.298 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Hereditary ataxia v1.298 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Hereditary ataxia v1.298 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Hereditary ataxia v1.298 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Hereditary ataxia v1.298 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary ataxia v1.298 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Hereditary ataxia v1.298 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Hereditary ataxia v1.298 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary ataxia v1.298 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary ataxia v1.298 ATXN3 Eleanor Williams Deleted their review
Hereditary ataxia v1.298 ATXN3 Eleanor Williams Deleted their comment
Hereditary ataxia v1.298 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary ataxia v1.298 ATXN3 Eleanor Williams commented on gene: ATXN3
Hereditary ataxia v1.298 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary ataxia v1.298 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary ataxia v1.298 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary ataxia v1.298 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Hereditary ataxia v1.298 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Hereditary ataxia v1.298 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.297 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Hereditary ataxia v1.297 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.296 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary ataxia v1.296 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.295 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Hereditary ataxia v1.295 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Hereditary ataxia v1.294 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary ataxia v1.294 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary ataxia v1.293 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Hereditary ataxia v1.293 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary ataxia v1.292 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary ataxia v1.292 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.291 ATXN7_CAG Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary ataxia v1.291 ATXN7_CAG Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.290 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary ataxia v1.290 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.289 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary ataxia v1.289 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.288 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary ataxia v1.288 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.287 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary ataxia v1.287 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.286 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Hereditary ataxia v1.286 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.283 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Hereditary ataxia v1.283 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.282 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria, OMIM:610377
Hereditary ataxia v1.281 HEXB Arina Puzriakova Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Hereditary ataxia v1.280 EXOSC3 Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B, 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Hereditary ataxia v1.279 NOP56_GGCCTG Arina Puzriakova Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153
Hereditary ataxia v1.278 NOP56 Arina Puzriakova Phenotypes for gene: NOP56 were changed from Spinocerebellarataxia36,614153 to Spinocerebellar ataxia 36, OMIM:614153
Hereditary ataxia v1.277 PPP2R2B Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.277 PPP2R2B Arina Puzriakova Mode of inheritance for gene: PPP2R2B was changed from to Other
Hereditary ataxia v1.276 PPP2R2B Arina Puzriakova Phenotypes for gene: PPP2R2B were changed from Spinocerebellarataxia12,604326 to Spinocerebellar ataxia 12, OMIM:604326
Hereditary ataxia v1.275 PPP2R2B Arina Puzriakova Tag watchlist was removed from gene: PPP2R2B.
Hereditary ataxia v1.275 PPP2R2B_CAG Arina Puzriakova Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326
Hereditary ataxia v1.274 TBP_CAG Arina Puzriakova Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136
Hereditary ataxia v1.273 TBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.273 TBP Arina Puzriakova Mode of inheritance for gene: TBP was changed from to Other
Hereditary ataxia v1.272 TBP Arina Puzriakova Phenotypes for gene: TBP were changed from Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 to Spinocerebellar ataxia 17, OMIM:607136
Hereditary ataxia v1.271 HTT_CAG Arina Puzriakova Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Hereditary ataxia v1.270 FMR1_CGG Arina Puzriakova Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624 to Fragile X tremor/ataxia syndrome, OMIM:300623
Hereditary ataxia v1.269 FMR1 Arina Puzriakova Phenotypes for gene: FMR1 were changed from FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype to Fragile X tremor/ataxia syndrome, OMIM:300623
Hereditary ataxia v1.268 ATXN1 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.268 ATXN1 Arina Puzriakova Mode of inheritance for gene: ATXN1 was changed from to Other
Hereditary ataxia v1.267 ATXN1 Arina Puzriakova Phenotypes for gene: ATXN1 were changed from Spinocerebellarataxia1,164400 to Spinocerebellar ataxia 1, OMIM:164400
Hereditary ataxia v1.266 ATXN1_CAG Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Hereditary ataxia v1.265 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Hereditary ataxia v1.265 CSTB Arina Puzriakova Classified gene: CSTB as Green List (high evidence)
Hereditary ataxia v1.265 CSTB Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green as ataxia is a common part of the phenotype. This also reflects the current rating on GMS ataxia panels.
Hereditary ataxia v1.265 CSTB Arina Puzriakova Gene: cstb has been classified as Green List (High Evidence).
Hereditary ataxia v1.264 CSTB Arina Puzriakova Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Hereditary ataxia v1.263 CSTB_CCCCGCCCCGCG Arina Puzriakova Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Hereditary ataxia v1.262 CACNA1A Arina Puzriakova Tag nucleotide-repeat-expansion was removed from gene: CACNA1A.
Hereditary ataxia v1.262 CACNA1A Arina Puzriakova Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2; Spinocerebellar ataxia 6; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Hereditary ataxia v1.261 CACNA1A_CAG Arina Puzriakova Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Hereditary ataxia v1.260 ATXN7_CAG Arina Puzriakova Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Hereditary ataxia v1.259 ATXN7 Arina Puzriakova Phenotypes for gene: ATXN7 were changed from Spinocerebellarataxia7,164500 to Spinocerebellar ataxia 7, OMIM:164500
Hereditary ataxia v1.258 ATXN7 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.258 ATXN7 Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from to Other
Hereditary ataxia v1.257 ATXN3_CAG Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Hereditary ataxia v1.256 ATXN3 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.256 ATXN3 Arina Puzriakova Mode of inheritance for gene: ATXN3 was changed from to Other
Hereditary ataxia v1.255 ATXN3 Arina Puzriakova Phenotypes for gene: ATXN3 were changed from to Machado-Joseph disease, OMIM:109150
Hereditary ataxia v1.254 ATXN2_CAG Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090
Hereditary ataxia v1.253 ATXN2 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.253 ATXN2 Arina Puzriakova Mode of inheritance for gene: ATXN2 was changed from to Other
Hereditary ataxia v1.252 ATXN2 Arina Puzriakova Phenotypes for gene: ATXN2 were changed from Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090 to Spinocerebellar ataxia 2, OMIM:183090
Hereditary ataxia v1.251 ATXN10_ATTCT Arina Puzriakova Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Hereditary ataxia v1.250 ATXN10 Arina Puzriakova Tag watchlist was removed from gene: ATXN10.
Hereditary ataxia v1.250 ATXN10 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.250 ATXN10 Arina Puzriakova Mode of inheritance for gene: ATXN10 was changed from to Other
Hereditary ataxia v1.249 ATXN10 Arina Puzriakova Phenotypes for gene: ATXN10 were changed from Spinocerebellarataxia10,603516 to Spinocerebellar ataxia 10, OMIM:603516
Hereditary ataxia v1.248 ATN1_CAG Arina Puzriakova Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Hereditary ataxia v1.247 ATN1 Arina Puzriakova Phenotypes for gene: ATN1 were changed from to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Hereditary ataxia v1.246 ATN1 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.246 ATN1 Arina Puzriakova Mode of inheritance for gene: ATN1 was changed from Other - please specifiy in evaluation comments to Other
Hereditary ataxia v1.245 AP1S2 Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340
Hereditary ataxia v1.244 CLCN2 Arina Puzriakova Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to Leukoencephalopathy with ataxia, OMIM:615651
Hereditary ataxia v1.243 CLCN2 Arina Puzriakova Publications for gene: CLCN2 were set to 23707145; 19191339
Hereditary ataxia v1.242 CLCN2 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI has been changed from 'Both mono- and biallelic' to 'Biallelic' only. Ataxia is a frequent feature of CLCN2-related Leukoencephalopathy (MIM# 615651) which is caused by biallelic variants. Autosomal dominant pathogenic variants are also associated with hyperaldosteronism (MIM# 605635) and susceptibility to idiopathic epilepsy (MIM# 607628) but neither of these phenotypes include ataxia.
Hereditary ataxia v1.242 CLCN2 Arina Puzriakova Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.241 CHP1 Arina Puzriakova edited their review of gene: CHP1: Changed rating: AMBER; Changed publications to: 23904602, 29379881, 32787936; Changed phenotypes to: Spastic ataxia 9, autosomal recessive, OMIM:618438; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.241 CHP1 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Julia Baptista (RD&E_NHS). Rating Amber, awaiting further cases to better delineate phenotypes and for clarification regarding the age of onset.
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Two unrelated families, each with two affected sibs presenting ataxia, associated with different biallelic variants in the CHP1 gene (PMID: 29379881; 32787936). Other features include intellectual disability (3/4), cerebellar atrophy (3/4), spastic paraplegia (3/4), and neuropathy (2/4).

In vitro studies of one variant showed mutant CHP1 fails to integrate into functional complexes and impairs membrane localisation of the Na+/H+ transporter NHE1. Zebrafish and mouse models recapitulate human phenotypes such as movement defects (including ataxia), cerebellar hypoplasia, and axon abnormalities (PMID: 23904602; 29379881).

However, there are some notable differences between the two families. The age at onset differs considerably with one sib pair presenting with ataxia and cognitive decline in middle age (PMID: 32787936), in contrast to the other sibs who had infantile-onset ataxia and intellectual disability (PMID: 29379881).

CHP1 has been added to both adult and childhood-onset ataxia GMS panels, but currently the evidence only suffices for an Amber rating for each (added watchlist tag).; to: Comment on list classification: New gene added by Julia Baptista (RD&E_NHS). Rating Amber, awaiting further cases to better delineate phenotypes and for clarification regarding the age of onset.
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Two unrelated families, each with two affected sibs presenting ataxia, associated with different biallelic variants in the CHP1 gene (PMID: 29379881; 32787936). Other features include intellectual disability (3/4), cerebellar atrophy (3/4), spastic paraplegia (3/4), and neuropathy (2/4).

In vitro studies of one variant showed mutant CHP1 fails to integrate into functional complexes and impairs membrane localisation of the Na+/H+ transporter NHE1. Zebrafish and mouse models recapitulate human phenotypes such as movement defects (including ataxia), cerebellar hypoplasia, and axon abnormalities (PMID: 23904602; 29379881).

However, there are some notable differences between the two families. The age at onset differs considerably with one sib pair presenting with ataxia and cognitive decline in middle age (PMID: 32787936), in contrast to the other sibs who had infantile-onset ataxia and intellectual disability (PMID: 29379881).

CHP1 has been added to both adult and childhood-onset ataxia and spasticity GMS panels, but currently the evidence only suffices for an Amber rating for each (added watchlist tag).
Hereditary ataxia v1.241 CHP1 Arina Puzriakova Publications for gene: CHP1 were set to 32787936; 29379881
Hereditary ataxia v1.240 CHP1 Arina Puzriakova Tag watchlist tag was added to gene: CHP1.
Hereditary ataxia v1.240 CHP1 Arina Puzriakova Classified gene: CHP1 as Amber List (moderate evidence)
Hereditary ataxia v1.240 CHP1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista (RD&E_NHS). Rating Amber, awaiting further cases to better delineate phenotypes and for clarification regarding the age of onset.
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Two unrelated families, each with two affected sibs presenting ataxia, associated with different biallelic variants in the CHP1 gene (PMID: 29379881; 32787936). Other features include intellectual disability (3/4), cerebellar atrophy (3/4), spastic paraplegia (3/4), and neuropathy (2/4).

In vitro studies of one variant showed mutant CHP1 fails to integrate into functional complexes and impairs membrane localisation of the Na+/H+ transporter NHE1. Zebrafish and mouse models recapitulate human phenotypes such as movement defects (including ataxia), cerebellar hypoplasia, and axon abnormalities (PMID: 23904602; 29379881).

However, there are some notable differences between the two families. The age at onset differs considerably with one sib pair presenting with ataxia and cognitive decline in middle age (PMID: 32787936), in contrast to the other sibs who had infantile-onset ataxia and intellectual disability (PMID: 29379881).

CHP1 has been added to both adult and childhood-onset ataxia GMS panels, but currently the evidence only suffices for an Amber rating for each (added watchlist tag).
Hereditary ataxia v1.240 CHP1 Arina Puzriakova Gene: chp1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia v1.239 CHP1 Arina Puzriakova Phenotypes for gene: CHP1 were changed from ataxia; ID to Spastic ataxia 9, autosomal recessive, OMIM:618438
Hereditary ataxia v1.238 CHP1 Julia Baptista gene: CHP1 was added
gene: CHP1 was added to Hereditary ataxia. Sources: Literature
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to 32787936; 29379881
Phenotypes for gene: CHP1 were set to ataxia; ID
Review for gene: CHP1 was set to AMBER
Added comment: Only 2 families reported to date. One additional unpublished family with ID, spasticity and severe disease course.
Sources: Literature
Hereditary ataxia v1.238 NKX6-2 Arina Puzriakova Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
Hereditary ataxia v1.237 KIF1C Arina Puzriakova Publications for gene: KIF1C were set to
Hereditary ataxia v1.236 KIF1C Arina Puzriakova Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive to Spastic ataxia 2, autosomal recessive, OMIM:611302
Hereditary ataxia v1.235 ABCB7 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" to "X-LINKED: hemizygous mutation in males, biallelic mutations in females" as there is no evidence that carrier females have ataxia.
Hereditary ataxia v1.235 ABCB7 Ivone Leong Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia v1.234 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia-Telangiectasia ; Ataxia-telangiectasia, to Ataxia-telangiectasia, OMIM:208900
Hereditary ataxia v1.233 ABCB7 Ivone Leong Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia, ; Sideroblastic Anemia and Ataxia to Anemia, sideroblastic, with ataxia, OMIM:301310
Hereditary ataxia v1.232 SAR1B Eleanor Williams Classified gene: SAR1B as Amber List (moderate evidence)
Hereditary ataxia v1.232 SAR1B Eleanor Williams Added comment: Comment on list classification: Changing the rating of this gene from Green to amber. This is a disorder of fat malabsorption. Only 1 report of a case (PMID: 10665502) reported with a Marinesco-Sjogren syndrome diagnosis in which the siblings showed severe cerebellar ataxia with truncal and limb ataxia. See reviews on GMS Hereditary ataxia - adult onset and Ataxia and cerebellar anomalies - narrow panel.
Hereditary ataxia v1.232 SAR1B Eleanor Williams Gene: sar1b has been classified as Amber List (Moderate Evidence).
Hereditary ataxia v1.231 XRCC1 Arina Puzriakova edited their review of gene: XRCC1: Changed rating: GREEN; Changed publications to: 28002403, 29472272; Changed phenotypes to: Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.231 XRCC1 Arina Puzriakova Classified gene: XRCC1 as Green List (high evidence)
Hereditary ataxia v1.231 XRCC1 Arina Puzriakova Added comment: Comment on list classification: Following discussion with Helen Brittain (Genomics England Clinical Team) it was agreed that there is enough evidence to promote this gene from Red to Green.
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Three individuals from unrelated families all from South Asian descent with cerebellar ataxia and peripheral neuropathy and a recurrent variant (c.1293G>C, 2 homozygotes and a comp het) in the XRCC1 gene. Homozygosity mapping in 2 families confirmed a shared haplotype and the recurrent variant is found in a heterozygous state in an unaffected sib and 4 individuals of South Asian descent in ExAC - indicating that this is a founder variant that is pathogenic when in trans with a second variant. There is some strong functional evidence that supports pathogenicity, including an animal model that recapitulated human phenotypes such as cerebellar ataxia.
Hereditary ataxia v1.231 XRCC1 Arina Puzriakova Gene: xrcc1 has been classified as Green List (High Evidence).
Hereditary ataxia v1.230 XRCC1 Arina Puzriakova Tag founder-effect tag was added to gene: XRCC1.
Hereditary ataxia v1.230 XRCC1 Arina Puzriakova Publications for gene: XRCC1 were set to 28002403
Hereditary ataxia v1.229 XRCC1 Arina Puzriakova Phenotypes for gene: XRCC1 were changed from ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
Hereditary ataxia v1.228 NUS1 Dmitrijs Rots gene: NUS1 was added
gene: NUS1 was added to Hereditary ataxia. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 33731878; 32334381; 32485575; 31656175
Phenotypes for gene: NUS1 were set to intellectual disability; seizures; ataxia; dystonia; tremor
Penetrance for gene: NUS1 were set to Complete
Review for gene: NUS1 was set to GREEN
Added comment: Multiple patients (see below) with de novo or heterozygous variants reported. The phenotype include ID, seizures and/or movement disorder (including tremor, ataxia, dystonia). Functional analysis of patients fibroblasts shows"de novo NUS1 variants reduce NgBR and Niemann–Pick type C2 (NPC2) protein amount, impair dolichol biosynthesis, and cause lysosomal cholesterol accumulation." (Yu et al,m 2021). Movement abnormalities and similar metabolic dysfunction in zebrafish model.

3 patients with ataxia reported in: PMID: 33731878
One patient with dystonia reported in: PMID: 32334381
One family with ataxia reported in: PMID: 32485575
Two cases with ataxia reported in: PMID: 31656175

Additionally, two cases from one family with homozygous missense variant, but NO ataxia is reported:PMID: 25066056
Sources: Literature
Hereditary ataxia v1.228 SCN8A Arina Puzriakova changed review comment from: SCN8A is associated with a range of phenotypes including epilepsy, neurodevelopmental defects, and movement disorders. Some individuals with deleterious SCN8A variants develop ataxia - at least 14 individuals with ataxia reported in literature (see publications list). Variable age of onset including both childhood-onset and adult-onset cases. Mouse Scn8a mutants exhibit movement disorders including ataxia, tremor and dystonia.; to: SCN8A is associated with a range of phenotypes including epilepsy, neurodevelopmental defects, and movement disorders. Some individuals with deleterious SCN8A variants develop ataxia - at least 14 individuals with ataxia reported in literature (see publications list). Variable age of onset - mostly during childhood but adult-onset cases have also been described. Mouse Scn8a mutants exhibit movement disorders including ataxia, tremor and dystonia.
Hereditary ataxia v1.228 SCN8A Arina Puzriakova Publications for gene: SCN8A were set to
Hereditary ataxia v1.227 SCN8A Arina Puzriakova Classified gene: SCN8A as Green List (high evidence)
Hereditary ataxia v1.227 SCN8A Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green - there is now a sufficient number of unrelated cases (>3) presenting ataxia in association with variants in the gene, supported by an animal model.
Hereditary ataxia v1.227 SCN8A Arina Puzriakova Gene: scn8a has been classified as Green List (High Evidence).
Hereditary ataxia v1.226 SCN8A Arina Puzriakova reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16236810, 22365152, 25725044, 28702509, 31675620, 31887642; Phenotypes: Cognitive impairment with or without cerebellar ataxia, OMIM:614306, Developmental and epileptic encephalopathy 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia v1.226 SCN8A Arina Puzriakova Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia, 614306 to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558
Hereditary ataxia v1.225 RUBCN Arina Puzriakova Publications for gene: RUBCN were set to PMID: 20826435
Hereditary ataxia v1.224 RUBCN Arina Puzriakova reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: None; Publications: 20826435, 32450808; Phenotypes: Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.224 RUBCN Arina Puzriakova Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
Hereditary ataxia v1.223 TSEN54 Arina Puzriakova Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753 to Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
Hereditary ataxia v1.222 POLR3K Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.98
Hereditary ataxia v1.222 POLR3K Ivone Leong gene: POLR3K was added
gene: POLR3K was added to Hereditary ataxia. Sources: Literature,Expert Review Amber
watchlist, founder-effect tags were added to gene: POLR3K.
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Leukodystrophy, hypomyelinating, 21, OMIM:619310
Hereditary ataxia v1.221 FXN_GAA Sarah Leigh Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Hereditary ataxia v1.220 FXN Sarah Leigh Phenotypes for gene: FXN were changed from Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Hereditary ataxia v1.219 UCHL1 Arina Puzriakova Classified gene: UCHL1 as Green List (high evidence)
Hereditary ataxia v1.219 UCHL1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green - ataxia and other cerebellar signs are a feature of this UCHL1-related neurodegenerative disorder. At least 4 unrelated families reported (PMIDs: 23359680; 28007905; 29735986; 32656641) with different biallelic variants, supported by functional and animal model data.
Hereditary ataxia v1.219 UCHL1 Arina Puzriakova Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary ataxia v1.218 UCHL1 Arina Puzriakova Phenotypes for gene: UCHL1 were changed from Early onset ataxia and optic neuropathy to Spastic paraplegia 79, autosomal recessive, OMIM:615491
Hereditary ataxia v1.217 UCHL1 Arina Puzriakova Publications for gene: UCHL1 were set to PMID: 23359680
Hereditary ataxia v1.216 UCHL1 Arina Puzriakova reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 28007905, 29735986, 32656641, 11555633, 33159930; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM:615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.216 EEF2 Eleanor Williams Classified gene: EEF2 as Amber List (moderate evidence)
Hereditary ataxia v1.216 EEF2 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber on advice of Genomics England clinical team. Amber rating selected pending further cases and delineation of the phenotype
Hereditary ataxia v1.216 EEF2 Eleanor Williams Gene: eef2 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia v1.215 ATCAY Sarah Leigh reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia v1.215 ATCAY Sarah Leigh Publications for gene: ATCAY were set to 29449188; 14556008; 23226316
Hereditary ataxia v1.214 ATCAY Sarah Leigh Publications for gene: ATCAY were set to
Hereditary ataxia v1.213 ATCAY Sarah Leigh Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type ; Cerebellar Ataxia, Cayman type to Ataxia, cerebellar, Cayman type OMIM:601238; Cayman type cerebellar ataxia MONDO:0011025
Hereditary ataxia v1.212 EEF2 Eleanor Williams commented on gene: EEF2: Waiting on opinion of Genomics England clinical team as to rating and additional panels for this gene.
Hereditary ataxia v1.212 EEF2 Eleanor Williams gene: EEF2 was added
gene: EEF2 was added to Hereditary ataxia. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 23001565; 33355653
Phenotypes for gene: EEF2 were set to Spinocerebellar ataxia 26 OMIM:609306
Review for gene: EEF2 was set to AMBER
Added comment: Provisionally associated with ?Spinocerebellar ataxia 26 #609306 (AD) in OMIM based on Hekman et al 2012 case.

PMID: 23001565 - Hekman et al 2012 - report a six-generation kindred of Norwegian ancestry with a late-onset pure cerebellar ataxia in which a heterozygous P596H substitution in eEF2 was found to segregate with the disease phenotype in 24 individuals and two currently asymptomatic individuals. Functional studies in yeast showed that the variant (P580H in the EFT2 gene in yeast) affected translational fidelity.

PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature
Hereditary ataxia v1.211 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Hereditary ataxia v1.211 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Hereditary ataxia v1.210 CLP1 Sarah Leigh Publications for gene: CLP1 were set to
Hereditary ataxia v1.209 CLP1 Sarah Leigh Classified gene: CLP1 as Green List (high evidence)
Hereditary ataxia v1.209 CLP1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. A single variant was reported in Turkish families who shared an 11.5 Mb haplotype in the CLP1 region, this did not suggest a recent ancestory amongst seemingly unrelated families (PMID 24766809). Supportive functional studies and a mouse model were also reported.
Hereditary ataxia v1.209 CLP1 Sarah Leigh Gene: clp1 has been classified as Green List (High Evidence).
Hereditary ataxia v1.208 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Hereditary ataxia v1.208 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia ; Spinocerebellar ataxia, autosomal recessive 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549
Hereditary ataxia v1.207 AARS Arina Puzriakova Phenotypes for gene: AARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Hereditary ataxia v1.206 AAAS Arina Puzriakova Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Hereditary ataxia v1.205 DNMT1 Eleanor Williams reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia v1.205 ATXN8 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: ATXN8.
Hereditary ataxia v1.205 ATXN8 Eleanor Williams commented on gene: ATXN8
Hereditary ataxia v1.205 CACNA2D2 Louise Daugherty Classified gene: CACNA2D2 as Green List (high evidence)
Hereditary ataxia v1.205 CACNA2D2 Louise Daugherty Gene: cacna2d2 has been classified as Green List (High Evidence).
Hereditary ataxia v1.204 CACNA2D2 Louise Daugherty Classified gene: CACNA2D2 as No list
Hereditary ataxia v1.204 CACNA2D2 Louise Daugherty Added comment: Comment on list classification: New gene added to panel by Genomics England clinical team recommendation and upgraded Grey to Green. There is enough evidence to support a Green rating on this panel, confirming biallelic CACNA2D2 variants and pertinent to the corresponding phenotype of Cerebellar anomalies/ataxia/epilepsy/ID.
Hereditary ataxia v1.204 CACNA2D2 Louise Daugherty Gene: cacna2d2 has been removed from the panel.
Hereditary ataxia v1.203 CACNA2D2 Louise Daugherty Publications for gene: CACNA2D2 were set to PMID: 30410802, PMID: 31402629, PMID: 24358150, PMID: 23339110, PMID: 29997391; PMID : 14660671; PMID: 15331424
Hereditary ataxia v1.202 CACNA2D2 Zerin Hyder gene: CACNA2D2 was added
gene: CACNA2D2 was added to Hereditary ataxia. Sources: Other
Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D2 were set to PMID: 30410802, PMID: 31402629, PMID: 24358150, PMID: 23339110, PMID: 29997391; PMID : 14660671; PMID: 15331424
Phenotypes for gene: CACNA2D2 were set to epilepsy; ataxia; developmental delay; cerebellar atrophy
Penetrance for gene: CACNA2D2 were set to unknown
Review for gene: CACNA2D2 was set to GREEN
Added comment: CACNA2D2 biallelic variants are associated with cerebellar atrophy with seizures and variable developmental delay (6 publications of affected families in the literature). Most patients also have onset of severe refractory seizures in the first year of life and show global developmental delay, compatible with epileptic encephalopathy (summary by Edvardson et al., 2013). However, at least 1 patient with normal cognitive development and only 1 febrile seizure has been reported (Valence et al., 2019), suggesting significant clinical variability of this disorder (OMIM 618501).

Mouse models including The 'ducky' mouse model (due to biallelic Cacna2d2 mutations) presented with absence epilepsy, spike-wave seizures and ataxia. Dysgenesis of the cerebellum is among the neuropathological findings (Brodbeck et al. (2002)). Mutations of the same gene in two other mouse models shows an association with ataxic gait, seizure susceptibility and cerebellar anomalies/degeneration.

Multiple submissions to ClinVar of biallelic variants rated as pathogenic for epileptic encephalopathy. Suggest update to green on panel.
Sources: Other
Hereditary ataxia v1.202 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Hereditary ataxia v1.202 AARS Louise Daugherty commented on gene: AARS
Hereditary ataxia v1.200 VPS13D Louise Daugherty Publications for gene: VPS13D were set to
Hereditary ataxia v1.199 PRRT2 Louise Daugherty Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751
Hereditary ataxia v1.198 SLC2A1 Louise Daugherty Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Hereditary ataxia v1.197 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Hereditary ataxia v1.196 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Hereditary ataxia v1.195 CACNA1G Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 61679
Hereditary ataxia v1.194 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Hereditary ataxia v1.193 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Hereditary ataxia v1.192 CASK Louise Daugherty Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Hereditary ataxia v1.191 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Hereditary ataxia v1.190 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Hereditary ataxia v1.189 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Hereditary ataxia v1.188 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Hereditary ataxia v1.187 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Hereditary ataxia v1.186 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Hereditary ataxia v1.185 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
Hereditary ataxia v1.184 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to
Hereditary ataxia v1.183 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Hereditary ataxia v1.182 EXOSC3 Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
Hereditary ataxia v1.181 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Hereditary ataxia v1.180 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary ataxia v1.179 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Hereditary ataxia v1.178 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204
Hereditary ataxia v1.177 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Hereditary ataxia v1.176 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Hereditary ataxia v1.175 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Hereditary ataxia v1.174 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Hereditary ataxia v1.173 MMACHC Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149
Hereditary ataxia v1.172 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Hereditary ataxia v1.171 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Hereditary ataxia v1.170 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Hereditary ataxia v1.169 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Hereditary ataxia v1.168 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Hereditary ataxia v1.167 TMEM240 Louise Daugherty Added comment: Comment on phenotypes: corrected MIM
Hereditary ataxia v1.167 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Hereditary ataxia v1.166 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Hereditary ataxia v1.165 TSEN2 Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Hereditary ataxia v1.164 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
Hereditary ataxia v1.163 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Hereditary ataxia v1.162 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
Hereditary ataxia v1.161 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Hereditary ataxia v1.160 TUBB4A Louise Daugherty Publications for gene: TUBB4A were set to PMID: 25497598
Hereditary ataxia v1.159 TUBB4A Louise Daugherty Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia
Hereditary ataxia v1.159 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
Hereditary ataxia v1.158 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Ataxia Neuropathy Spectrum Disorders (Dominant); Spinocerebellar Ataxia, Recessive to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia v1.157 VLDLR Louise Daugherty Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Hereditary ataxia v1.156 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia v1.155 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Hereditary ataxia v1.154 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Hereditary ataxia v1.153 WDR81 Louise Daugherty Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Hereditary ataxia v1.152 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Hereditary ataxia v1.151 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Hereditary ataxia v1.150 CSTB_CCCCGCCCCGCG Louise Daugherty GRCh38 position for CSTB_CCCCGCCCCGCG was changed from 43776447-43776470 to 43776429-43776470.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary ataxia v1.149 ATN1_CAG Louise Daugherty GRCh38 position for ATN1_CAG was changed from 6936717-6936773 to 6936717-6936772.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary ataxia v1.148 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Hereditary ataxia v1.147 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Hereditary ataxia v1.146 HTT_CAG Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100
Hereditary ataxia v1.145 HTT_CAG Arianna Tucci Marked STR: HTT_CAG as ready
Hereditary ataxia v1.145 HTT_CAG Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.145 CSTB_CCCCGCCCCGCG Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Hereditary ataxia v1.144 FMR1_CGG Louise Daugherty Classified STR: FMR1_CGG as No list
Hereditary ataxia v1.144 FMR1_CGG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Hereditary ataxia v1.144 FMR1_CGG Louise Daugherty Str: fmr1_cgg has been removed from the panel.
Hereditary ataxia v1.143 HTT_CAG Louise Daugherty Tag STR tag was added to STR: HTT_CAG.
Hereditary ataxia v1.143 CSTB_CCCCGCCCCGCG Louise Daugherty Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.
Hereditary ataxia v1.143 NOP56_GGCCTG Arianna Tucci Classified STR: NOP56_GGCCTG as Green List (high evidence)
Hereditary ataxia v1.143 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
Hereditary ataxia v1.142 NOP56_GGCCTG Arianna Tucci Normal Number of Repeats for NOP56_GGCCTG was changed from 14 to 15.
Hereditary ataxia v1.141 NOP56_GGCCTG Arianna Tucci Marked STR: NOP56_GGCCTG as ready
Hereditary ataxia v1.141 NOP56_GGCCTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.141 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Red List (Low Evidence).
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.140 TBP_CAG Arianna Tucci Normal Number of Repeats for TBP_CAG was changed from 40 to 41.
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.138 ATXN7_CAG Arianna Tucci Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary ataxia v1.138 ATXN7_CAG Arianna Tucci Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.137 ATXN7_CAG Arianna Tucci Marked STR: ATXN7_CAG as ready
Hereditary ataxia v1.137 ATXN7_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.137 ATXN7_CAG Arianna Tucci Str: atxn7_cag has been classified as Red List (Low Evidence).
Hereditary ataxia v1.137 ATXN3_CAG Arianna Tucci Marked STR: ATXN3_CAG as ready
Hereditary ataxia v1.137 ATXN3_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.137 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.137 ATXN3_CAG Arianna Tucci Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary ataxia v1.137 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.136 ATXN2_CAG Arianna Tucci Marked STR: ATXN2_CAG as ready
Hereditary ataxia v1.136 ATXN2_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.136 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.136 ATXN2_CAG Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary ataxia v1.136 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.135 ATXN2 Arianna Tucci Deleted their review
Hereditary ataxia v1.135 ATXN2 Arianna Tucci reviewed gene: ATXN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Marked STR: ATXN1_CAG as ready
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.134 ATXN1_CAG Arianna Tucci Pathogenic Number of Repeats for ATXN1_CAG was changed from 39 to 44.
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Marked STR: CSTB_CCCCGCCCCGCG as ready
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary ataxia v1.132 CSTB_CCCCGCCCCGCG Arianna Tucci STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Hereditary ataxia. Sources: Expert Review
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Hereditary ataxia v1.131 HTT_CAG Arianna Tucci Marked STR: HTT_CAG as ready
Hereditary ataxia v1.131 HTT_CAG Arianna Tucci Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with HD experts (6/09/2018) about feeding back HTT results
Hereditary ataxia v1.131 HTT_CAG Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.131 HTT_CAG Arianna Tucci Classified STR: HTT_CAG as Green List (high evidence)
Hereditary ataxia v1.131 HTT_CAG Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.130 HTT_CAG Arianna Tucci STR: HTT_CAG was added
STR: HTT_CAG was added to Hereditary ataxia. Sources: Expert Review
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: HTT_CAG was marked as current diagnostic
Hereditary ataxia v1.129 FXN_GAA Arianna Tucci Normal Number of Repeats for FXN_GAA was changed from 42 to 44.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary ataxia v1.128 FXN_GAA Arianna Tucci Marked STR: FXN_GAA as ready
Hereditary ataxia v1.128 FXN_GAA Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.128 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary ataxia v1.128 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Hereditary ataxia v1.128 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary ataxia v1.127 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Hereditary ataxia v1.127 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary ataxia v1.126 FXN_GAA Arianna Tucci Normal Number of Repeats for FXN_GAA was changed from 33 to 42.
Hereditary ataxia v1.125 FXN_GAA Arianna Tucci reviewed STR: FXN_GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia v1.125 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018 to Epilepsy, progressive myoclonic 6, 614018
Hereditary ataxia v1.124 GOSR2 Louise Daugherty Added comment: Comment on publications: Publications added support gene-disease association and rating of this gene to Green. Variants of GOSR2 are classified as causing less common Autosomal Recessive Hereditary Ataxias (i.e. reported in 1-5 families)
Hereditary ataxia v1.124 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to
Hereditary ataxia v1.123 GOSR2 Louise Daugherty Added comment: Comment on phenotypes: Added missing phenotype
Hereditary ataxia v1.123 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from to Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018
Hereditary ataxia v1.122 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105831
Hereditary ataxia v1.122 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Hereditary ataxia v1.122 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Hereditary ataxia SPTBN2 Ellen McDonagh commented on gene: SPTBN2
Hereditary ataxia VPS13D Arianna Tucci classified VPS13D as Green List (high evidence)
Hereditary ataxia VPS13D Arianna Tucci Added gene to panel
Hereditary ataxia FMR1 Ellen McDonagh commented on STR: FMR1_CGG
Hereditary ataxia ATXN7 Ellen McDonagh commented on STR: ATXN7_CAG
Hereditary ataxia TBP Ellen McDonagh commented on STR: TBP_CAG
Hereditary ataxia PPP2R2B Ellen McDonagh commented on STR: PPP2R2B_CAG
Hereditary ataxia PPP2R2B Arianna Tucci classified PPP2R2B as Green List (high evidence)
Hereditary ataxia ATN1 Arianna Tucci classified ATN1 as Green List (high evidence)
Hereditary ataxia CACNA1A Arianna Tucci classified CACNA1A as Green List (high evidence)
Hereditary ataxia ATXN7 Ellen McDonagh edited their review of STR: ATXN7_CAG
Hereditary ataxia TBP Ellen McDonagh commented on STR: TBP_CAG
Hereditary ataxia ATXN7 Louise Daugherty commented on STR: ATXN7_CAG
Hereditary ataxia FXN Ellen McDonagh commented on STR: FXN_GAA
Hereditary ataxia TBP Ellen McDonagh reviewed STR: TBP_CAG
Hereditary ataxia TBP Ellen McDonagh Added STR to panel
Hereditary ataxia PPP2R2B Ellen McDonagh commented on STR: PPP2R2B_CAG
Hereditary ataxia PPP2R2B Ellen McDonagh Added STR to panel
Hereditary ataxia NOP56 Ellen McDonagh Added STR to panel
Hereditary ataxia ATXN7 Ellen McDonagh Added STR to panel
Hereditary ataxia ATXN3 Ellen McDonagh Added STR to panel
Hereditary ataxia ATXN2 Ellen McDonagh Added STR to panel
Hereditary ataxia ATXN10 Ellen McDonagh Added STR to panel
Hereditary ataxia ATXN1 Ellen McDonagh Added STR to panel
Hereditary ataxia ATN1 Ellen McDonagh Added STR to panel
Hereditary ataxia FXN_GAA Ellen McDonagh Added STR to panel
Hereditary ataxia FMR1 Ellen McDonagh Added STR to panel
Hereditary ataxia CACNA1A Ellen McDonagh Added STR to panel
Hereditary ataxia VAMP1 alisdair mcneill reviewed VAMP1
Hereditary ataxia SPTBN2 alisdair mcneill reviewed SPTBN2
Hereditary ataxia MVK Sarah Leigh edited their review of MVK
Hereditary ataxia MVK Sarah Leigh classified MVK as Amber List (moderate evidence)
Hereditary ataxia MVK Sarah Leigh Added gene to panel
Hereditary ataxia GPAA1 Sarah Leigh classified GPAA1 as Green List (high evidence)
Hereditary ataxia GPAA1 Sarah Leigh Added gene to panel
Hereditary ataxia COG5 Eleanor Williams classified COG5 as Amber List (moderate evidence)
Hereditary ataxia COG5 Eleanor Williams Added gene to panel
Hereditary ataxia CLCN2 Sarah Leigh classified CLCN2 as Green List (high evidence)
Hereditary ataxia CLCN2 Sarah Leigh Added gene to panel
Hereditary ataxia DNAJC19 Ellen McDonagh classified DNAJC19 as Green List (high evidence)
Hereditary ataxia DNAJC19 Ellen McDonagh commented on DNAJC19
Hereditary ataxia DNAJC19 Ellen McDonagh Added gene to panel
Hereditary ataxia BEAN1 Sarah Leigh Added gene to panel
Hereditary ataxia ATXN10 Sarah Leigh reviewed ATXN10
Hereditary ataxia ATP6V0A2 Sarah Leigh classified ATP6V0A2 as Green List (high evidence)
Hereditary ataxia ATP6V0A2 Sarah Leigh Added gene to panel
Hereditary ataxia RUBCNL Louise Daugherty edited their review of RUBCNL
Hereditary ataxia OPA3 Louise Daugherty classified OPA3 as green
Hereditary ataxia OPA3 Louise Daugherty added OPA3 to panel
Hereditary ataxia OPA3 Louise Daugherty reviewed OPA3
Hereditary ataxia VAMP1 Rebecca Foulger edited their review of VAMP1
Hereditary ataxia VAMP1 Rebecca Foulger classified VAMP1 as amber
Hereditary ataxia VAMP1 Rebecca Foulger commented on VAMP1
Hereditary ataxia DAB1 Sarah Leigh edited their review of DAB1
Hereditary ataxia DAB1 Sarah Leigh reviewed DAB1
Hereditary ataxia NKX6-2 Sarah Leigh classified NKX6-2 as green
Hereditary ataxia NKX6-2 Sarah Leigh added NKX6-2 to panel
Hereditary ataxia NKX6-2 Sarah Leigh reviewed NKX6-2
Hereditary ataxia ELOVL4 Sarah Leigh classified ELOVL4 as green
Hereditary ataxia ELOVL4 Sarah Leigh added ELOVL4 to panel
Hereditary ataxia ELOVL4 Sarah Leigh reviewed ELOVL4
Hereditary ataxia DMXL2 Ellen McDonagh classified DMXL2 as amber
Hereditary ataxia DMXL2 Ellen McDonagh added DMXL2 to panel
Hereditary ataxia DMXL2 Ellen McDonagh reviewed DMXL2
Hereditary ataxia MRE11A Louise Daugherty commented on MRE11A
Hereditary ataxia DAB1 Arianna Tucci added DAB1 to panel
Hereditary ataxia DAB1 Arianna Tucci reviewed DAB1
Hereditary ataxia ATXN8 Arianna Tucci edited their review of ATXN8
Hereditary ataxia ATXN8 Arianna Tucci added ATXN8 to panel
Hereditary ataxia ATXN8 Arianna Tucci reviewed ATXN8
Hereditary ataxia CSTB Arianna Tucci added CSTB to panel
Hereditary ataxia CSTB Arianna Tucci reviewed CSTB
Hereditary ataxia MTTP Sarah Leigh classified MTTP as green
Hereditary ataxia MTTP Sarah Leigh added MTTP to panel
Hereditary ataxia MTTP Sarah Leigh reviewed MTTP
Hereditary ataxia SAR1B Sarah Leigh commented on SAR1B
Hereditary ataxia SAR1B Sarah Leigh classified SAR1B as green
Hereditary ataxia SAR1B Sarah Leigh added SAR1B to panel
Hereditary ataxia SAR1B Sarah Leigh reviewed SAR1B
Hereditary ataxia DNAJC5 Sarah Leigh added DNAJC5 to panel
Hereditary ataxia DNAJC5 Sarah Leigh reviewed DNAJC5
Hereditary ataxia EPM2A Sarah Leigh added EPM2A to panel
Hereditary ataxia EPM2A Sarah Leigh reviewed EPM2A
Hereditary ataxia NHLRC1 Sarah Leigh added NHLRC1 to panel
Hereditary ataxia NHLRC1 Sarah Leigh reviewed NHLRC1
Hereditary ataxia SLC2A1 Sarah Leigh commented on SLC2A1
Hereditary ataxia XRCC1 Ellen McDonagh added XRCC1 to panel
Hereditary ataxia XRCC1 Ellen McDonagh reviewed XRCC1
Hereditary ataxia C10orf2 Louise Daugherty commented on C10orf2
Hereditary ataxia KIAA0226 Louise Daugherty commented on KIAA0226
Hereditary ataxia MRE11A Louise Daugherty commented on MRE11A
Hereditary ataxia ADCK3 Louise Daugherty commented on ADCK3
Hereditary ataxia TBP Alice Gardham commented on TBP
Hereditary ataxia ATXN7 Alice Gardham commented on ATXN7
Hereditary ataxia ATXN3 Alice Gardham commented on ATXN3
Hereditary ataxia ATXN10 Alice Gardham commented on ATXN10
Hereditary ataxia NOP56 Alice Gardham commented on NOP56
Hereditary ataxia ATN1 Alice Gardham commented on ATN1
Hereditary ataxia ATN1 Ellen McDonagh commented on ATN1
Hereditary ataxia ATXN2 Ellen McDonagh edited their review of ATXN2
Hereditary ataxia POLG Ellen McDonagh commented on POLG
Hereditary ataxia OPHN1 Ellen McDonagh commented on OPHN1
Hereditary ataxia POLR3A Ellen McDonagh marked POLR3A as ready
Hereditary ataxia POLR3A Ellen McDonagh classified POLR3A as green
Hereditary ataxia POLR3A Ellen McDonagh classified POLR3A as red
Hereditary ataxia POLR3A Ellen McDonagh added POLR3A to panel
Hereditary ataxia POLR3A Ellen McDonagh reviewed POLR3A
Hereditary ataxia GJC2 Ellen McDonagh marked GJC2 as ready
Hereditary ataxia GJC2 Ellen McDonagh classified GJC2 as green
Hereditary ataxia GJC2 Ellen McDonagh classified GJC2 as grey
Hereditary ataxia GJC2 Ellen McDonagh added GJC2 to panel
Hereditary ataxia GJC2 Ellen McDonagh reviewed GJC2
Hereditary ataxia PRNP Ellen McDonagh marked PRNP as ready
Hereditary ataxia PRNP Ellen McDonagh classified PRNP as green
Hereditary ataxia PRNP Ellen McDonagh classified PRNP as red
Hereditary ataxia PRNP Ellen McDonagh added PRNP to panel
Hereditary ataxia PRNP Ellen McDonagh reviewed PRNP
Hereditary ataxia GFAP Ellen McDonagh marked GFAP as ready
Hereditary ataxia GFAP Ellen McDonagh classified GFAP as green
Hereditary ataxia GFAP Ellen McDonagh classified GFAP as red
Hereditary ataxia GFAP Ellen McDonagh added GFAP to panel
Hereditary ataxia GFAP Ellen McDonagh reviewed GFAP