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Hereditary ataxia with onset in adulthood v4.34 | ATP2B3 | Achchuthan Shanmugasundram changed review comment from: There are six unrelated cases reported with X-linked recessive variants in ATP2B3 gene and with a phenotype comprising ataxia. However, the onset of the disease was during childhood inn three of these cases, while detailed clinical information was not available for the other three cases.; to: There are six unrelated cases reported with X-linked recessive variants in ATP2B3 gene and with a phenotype comprising ataxia. However, the onset of the disease was during childhood in three of these cases, while detailed clinical information was not available for the other three cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.34 | ATP2B3 | Achchuthan Shanmugasundram Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1; X-linked spinocerebellar ataxia, 302500 to ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.33 | ATP2B3 | Achchuthan Shanmugasundram Publications for gene: ATP2B3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.32 | ATP2B3 | Achchuthan Shanmugasundram Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.31 | ATP2B3 | Achchuthan Shanmugasundram commented on gene: ATP2B3: There are six unrelated cases reported with X-linked recessive variants in ATP2B3 gene and with a phenotype comprising ataxia. However, the onset of the disease was during childhood inn three of these cases, while detailed clinical information was not available for the other three cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.31 | ATP2B3 | Achchuthan Shanmugasundram edited their review of gene: ATP2B3: Changed phenotypes to: ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.31 | ATP2B3 | Achchuthan Shanmugasundram reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25953895, 28807751, 36207321; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.31 | NAA60 | Sarah Leigh commented on gene: NAA60: NAA60 should be green on the Hereditary ataxia with onset in adulthood as four of the families described in table 1 (PMID: 38480682), also displayed either cerebellar syndrome (which often includes ataxia) or cerebellar ataxia (personal communication from Helen Brittain (Genomics England Clinical Fellow). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.31 | NAA60 | Sarah Leigh Tag Q2_24_MOI tag was added to gene: NAA60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.31 | NAA60 | Sarah Leigh Entity copied from White matter disorders and cerebral calcification - narrow panel v3.35 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.31 | NAA60 |
Sarah Leigh gene: NAA60 was added gene: NAA60 was added to Hereditary ataxia with onset in adulthood. Sources: Literature,Expert Review Amber Q2_24_promote_green, Q2_24_NHS_review tags were added to gene: NAA60. Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAA60 were set to 38480682 Phenotypes for gene: NAA60 were set to NAA60 associated autosomal recessive primary familial brain calcifications |
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Hereditary ataxia with onset in adulthood v4.30 | MSTO1 | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.30 | MSTO1 | Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.29 | MSTO1 | Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.29 | MSTO1 | Sarah Leigh Publications for gene: MSTO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.28 | MSTO1 | Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.28 | PRICKLE1 | Arina Puzriakova Classified gene: PRICKLE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.28 | PRICKLE1 | Arina Puzriakova Gene: prickle1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.27 | PRICKLE1 | Arina Puzriakova Phenotypes for gene: PRICKLE1 were changed from Progressive myoclonic epilepsy 1B OMIM:612437; epilepsy, progressive myoclonic, 1B MONDO:0012904 to Epilepsy, progressive myoclonic 1B, OMIM:612437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.26 | FGF14_GAA |
Eleanor Williams Tag Q1_23_promote_green was removed from STR: FGF14_GAA. Tag Q1_23_expert_review was removed from STR: FGF14_GAA. Tag Q1_23_NHS_review was removed from STR: FGF14_GAA. Tag watchlist tag was added to STR: FGF14_GAA. |
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Hereditary ataxia with onset in adulthood v4.26 | FGF14_GAA |
Eleanor Williams commented on STR: FGF14_GAA: After NHS Genomic Medicine Service consideration, the rating of this STR has not been changed and remains Amber. Comments from review: Agree that the expansion is likely disease causing. However only a small number of cases have been used to define the number of repeats that could be considered pathogenic. Would recommend that more cases should be identified to better define the pathogenic repeat lengths of this STR. Perhaps study in 100,000 Genomes and GMS data would provide additional cases. Agree that alleles >250 rpts are of interest and those >300 likely to be diagnostic but concerned that Expansion Hunter will not be able to provide accurate sizing beyond a threshold well below this (~100 repeats). See Supplementary figure S2 of PMID 36493768 for an illustration of this. Can ExpansionHunterDeNovo do better using paired IRRs (PMID PMID: 32345345), or can Expansion Hunter be adapted to factor-in paired IRRs to give a better prediction of expansion size? PCR based assays will also be essential for confirmation and sizing of any repeats detected, not currently available diagnostically to our knowledge. |
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Hereditary ataxia with onset in adulthood v4.24 | 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 with onset in adulthood v4.24 | COQ4 | Sarah Leigh Tag Q4_22_promote_green was removed from gene: COQ4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | GRN | Sarah Leigh Tag Q4_22_promote_green was removed from gene: GRN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | SPTAN1 | Sarah Leigh Tag Q1_23_promote_green was removed from gene: SPTAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | GRM1 | Sarah Leigh Tag Q4_22_MOI was removed from gene: GRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | SPG7 | Sarah Leigh Tag Q2_23_MOI was removed from gene: SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | TERT | Sarah Leigh Tag Q4_22_demote_red was removed from gene: TERT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | SPTAN1 | Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | GRN | Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | COQ4 | Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | TERT | Sarah Leigh reviewed gene: TERT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | SPTAN1 | Sarah Leigh reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | SPG7 | Sarah Leigh commented on gene: SPG7: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | GRN | Sarah Leigh reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | GRM1 | Sarah Leigh reviewed gene: GRM1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.24 | COQ4 | Sarah Leigh reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.23 | TERT |
Sarah Leigh Source Expert Review Red was added to TERT. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v4.23 | SPTAN1 |
Sarah Leigh Source NHS GMS was added to SPTAN1. Source Expert Review Green was added to SPTAN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v4.23 | SPG7 | Sarah Leigh Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.23 | GRN |
Sarah Leigh Source Expert Review Green was added to GRN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v4.23 | GRM1 | Sarah Leigh Mode of inheritance for gene GRM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.23 | COQ4 |
Sarah Leigh Source NHS GMS was added to COQ4. Source Expert Review Green was added to COQ4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v4.22 | RFC1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.22 | 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 with onset in adulthood v4.22 | FGF14_GAA | Sarah Leigh Phenotypes for STR: FGF14_GAA were changed from Late-onset cerebellar ataxia; Episodic features; Nystagmus; Spinocerebellar ataxia 27B, late-onset, OMIM:620174 to Spinocerebellar ataxia 27B, late-onset, OMIM: 620174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.21 | FGF14_GAA | Sarah Leigh Publications for STR: FGF14_GAA were set to 36516086; 36493768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.20 | COQ4 | Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.19 | COQ4 | Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed phenotypes to: Coenzyme Q10 deficiency, primary, 7, OMIM:616276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.19 | SPTAN1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Although there are three unrelated cases reported with biallelic SPTAN1 variants and hereditary spastic paraplegia, they do not present with ataxia (PMID:31515523; PMID:34526651). Hence, the MOI should remain as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.19 | SPTAN1 | Achchuthan Shanmugasundram Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.18 | SPTAN1 | Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.17 | UCHL1 |
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: UCHL1. Tag Q3_23_MOI tag was added to gene: UCHL1. |
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Hereditary ataxia with onset in adulthood v4.17 | UCHL1 | Sarah Leigh Classified gene: UCHL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.17 | UCHL1 | 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 with onset in adulthood v4.17 | UCHL1 | Sarah Leigh Gene: uchl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.16 | UCHL1 | Sarah Leigh edited their review of gene: UCHL1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.16 | UCHL1 | Sarah Leigh changed review comment from: 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 UCHL1 variants. The variants included 13 heterozygous loss-of-function variants (15 families) and a heterozygous in-frame insertion (3 families). 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).; to: 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 UCHL1 variants. The variants included 13 heterozygous loss-of-function variants (15 families) and a heterozygous in-frame insertion (3 families). 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 with onset in adulthood v4.16 | UCHL1 | Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 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 with onset in adulthood v4.15 | TDP1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: TDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.15 | TDP1 | Achchuthan Shanmugasundram edited their review of gene: TDP1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.15 | TDP1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene can now be promoted to AMBER as there are three unrelated cases. The "founder-effect" tag has been added as they are all of Middle Eastern descent and harboured the same homozygous variant. However, the additional patient reported by Ian Berry (Leeds Genetics Laboratory) had the same variant in compound heterozygous state with another novel variant. Hence, this gene can be considered for promotion to GREEN rating at the next major review.; to: Comment on list classification: This gene can now be promoted to AMBER as there are three unrelated cases. The "founder-effect" tag has been added as they are all of Middle Eastern descent and harboured the same homozygous variant. However, the additional patient reported by Ian Berry (Leeds Genetics Laboratory) had the same variant in compound heterozygous state with another novel variant. As there is an additional variant reported, this gene can be considered for promotion to GREEN rating at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.15 | TDP1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene can now be promoted to AMBER as there are three unrelated cases. The "founder-effect" tag has been added as they are all of Middle Eastern descent and harboured the same homozygous variant. Hence, it cannot be promoted to green rating.; to: Comment on list classification: This gene can now be promoted to AMBER as there are three unrelated cases. The "founder-effect" tag has been added as they are all of Middle Eastern descent and harboured the same homozygous variant. However, the additional patient reported by Ian Berry (Leeds Genetics Laboratory) had the same variant in compound heterozygous state with another novel variant. Hence, this gene can be considered for promotion to GREEN rating at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.15 | PRPS1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: All female cases from the three families were reported with X-linked dominant variants in PRPS1 gene. Hence, the MOI should be changed to "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.15 | PRPS1 | Achchuthan Shanmugasundram Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.14 | PRPS1 | Achchuthan Shanmugasundram Phenotypes for gene: PRPS1 were changed from Ataxia; deafness; eye disease to cerebellar ataxia, MONDO:0000437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.13 | PRPS1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Three families reported with adult-onset ataxia. Although ataxia has been reported in the proband and her mother with X-linked dominant variant in a family in PMID:28967191, it was not reported in the older sister from the family with the same variant. Due to the reduced penetrance in this family, this gene should only be rated amber.; to: Comment on list classification: As reviewed by Zornitza Stark, three families were reported with adult-onset ataxia. Although ataxia has been reported in the proband and her mother with X-linked dominant variant in a family in PMID:28967191, it was not reported in the older sister from the family with the same variant. Due to the reduced penetrance in this family, this gene should only be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.13 | PRPS1 | Achchuthan Shanmugasundram Classified gene: PRPS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.13 | PRPS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Three families reported with adult-onset ataxia. Although ataxia has been reported in the proband and her mother with X-linked dominant variant in a family in PMID:28967191, it was not reported in the older sister from the family with the same variant. Due to the reduced penetrance in this family, this gene should only be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.13 | PRPS1 | Achchuthan Shanmugasundram Gene: prps1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.12 | PRPS1 | Achchuthan Shanmugasundram reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25491489, 28967191, 33898739; Phenotypes: cerebellar ataxia, MONDO:0000437; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.12 | FGF14_GAA | Eleanor Williams changed review comment from: Comment on list classification: Promoting to amber but there is sufficient evidence to promote to green following GMS review, and configuration in the Rare Disease analysis pipeline.; to: Comment on list classification: Promoting to amber but there is sufficient evidence to promote to green following GMS review, and configuration in the Rare Disease analysis pipeline. GMS expert review is required to confirm that the normal and pathogenic thresholds set are appropriate. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.12 | COASY | Sarah Leigh Publications for gene: COASY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.11 | RFC1 | Sarah Leigh commented on gene: RFC1: Five recent papers (PMID: 35883251; 36250766; 36289003; 36524104; 36478048) report nine RFC1 pathogenic variants in trans with the RFC1_AAGGG expansion variant in at least nine unrelated cases. To date such variants have not been detected in the absence of the RFC1_AAGGG, which is why this gene is rated as Red in PanelApp. Detection of the RFC1_AAGGG expansion variant must be validated within the Genomics England pipeline and will be added to PanelApp in due course. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.11 | RFC1 | Sarah Leigh reviewed gene: RFC1: Rating: RED; Mode of pathogenicity: None; Publications: 35883251, 36250766, 36289003, 36524104, 36478048; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.11 | RFC1 | Sarah Leigh Phenotypes for gene: RFC1 were changed from Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, MONDO:0013809; chronic idiopathic axonal polyneuropathy; chronic polyneuropathy, MONDO:0003335 to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575; cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.10 | RFC1 | Sarah Leigh Publications for gene: RFC1 were set to 30926972; 31824583; 32851396; 32582864; 33969391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.9 | RFC1 | Joseph Shaw reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 35883251, 36250766, 36289003, 36524104, 36478048; Phenotypes: Ataxia, Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.9 | DARS2 | Arina Puzriakova Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.8 | SPG7 | Sarah Leigh reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.8 | SPG7 | Sarah Leigh Publications for gene: SPG7 were set to 25681447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.7 | SPG7 | Sarah Leigh Tag Q2_23_MOI tag was added to gene: SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.7 | 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; Autosomal recessive spastic paraplegia 7, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.6 | TDP1 |
Achchuthan Shanmugasundram changed review comment from: As reviewed by Ian Berry (Leeds Genetics Laboratory), there are now three unrelated families reported in literature with Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) and identified with homozygous variant in TDP1 gene. However, all three families are of Arab descent (one family from Saudi Arabia and two families from Oman) and they presented with the same homozygous variant (p.His493Arg). There are a number of functional studies characterising the function of H493R variant in vitro (PMIDs:15920477, 17948061 & 31723605) This gene has been associated with phenotypes in OMIM (MIM #607250), but not in Gene2Phenotype.; to: As reviewed by Ian Berry (Leeds Genetics Laboratory), there are now three unrelated families reported in literature with Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) and identified with homozygous variant in TDP1 gene. However, all three families are of Arab descent (one family from Saudi Arabia and two families from Oman) and they presented with the same homozygous variant (p.His493Arg). There are a number of functional studies characterising the function of H493R variant in vitro (PMIDs:15920477, 17948061 & 31723605). This gene has been associated with phenotypes in OMIM (MIM #607250), but not in Gene2Phenotype. |
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Hereditary ataxia with onset in adulthood v4.6 | TDP1 | Achchuthan Shanmugasundram Publications for gene: TDP1 were set to 12244316; 31182267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.5 | TDP1 |
Achchuthan Shanmugasundram changed review comment from: As reviewed by Ian Berry (Leeds Genetics Laboratory), there are now three unrelated families reported in literature with Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) and identified with homozygous variant in TDP1 gene. However, all three families are of Arab descent (one family from Saudi Arabia and two families from Oman) and they presented with the same homozygous variant (p.His493Arg). This gene has been associated with phenotypes in OMIM (MIM #607250), but not in Gene2Phenotype.; to: As reviewed by Ian Berry (Leeds Genetics Laboratory), there are now three unrelated families reported in literature with Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) and identified with homozygous variant in TDP1 gene. However, all three families are of Arab descent (one family from Saudi Arabia and two families from Oman) and they presented with the same homozygous variant (p.His493Arg). There are a number of functional studies characterising the function of H493R variant in vitro (PMIDs:15920477, 17948061 & 31723605) This gene has been associated with phenotypes in OMIM (MIM #607250), but not in Gene2Phenotype. |
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Hereditary ataxia with onset in adulthood v4.5 | TDP1 | Achchuthan Shanmugasundram edited their review of gene: TDP1: Changed publications to: 12244316, 15920477, 17948061, 31182267, 31723605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.5 | TDP1 | Achchuthan Shanmugasundram Classified gene: TDP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.5 | TDP1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene can now be promoted to AMBER as there are three unrelated cases. The "founder-effect" tag has been added as they are all of Middle Eastern descent and harboured the same homozygous variant. Hence, it cannot be promoted to green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.5 | TDP1 | Achchuthan Shanmugasundram Gene: tdp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.4 | TDP1 | Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: TDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.4 | TDP1 | Achchuthan Shanmugasundram Phenotypes for gene: TDP1 were changed from Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250; Spinocerebellar ataxia, autosomal recessive with axonal neuropathy to ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.3 | TDP1 | Achchuthan Shanmugasundram Publications for gene: TDP1 were set to 12244316; 31182267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.2 | TDP1 | Achchuthan Shanmugasundram Publications for gene: TDP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.1 | TDP1 | Achchuthan Shanmugasundram reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12244316, 31182267; Phenotypes: ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.1 | TDP1 | Ian Berry reviewed gene: TDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PMID: 12244316, PMID: 31182267; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.1 | Catherine Snow Panel version 4.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.0 | Catherine Snow promoted panel to version 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.18 | Eleanor Williams List of related panels changed from Hereditary ataxia with onset in adulthood; Hereditary ataxia - adult onset; R54 to Hereditary ataxia - adult onset; R54 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.17 |
Sarah Leigh Panel name changed from Hereditary ataxia - adult onset to Hereditary ataxia with onset in adulthood List of related panels changed from Hereditary ataxia with onset in adulthood; R54 to Hereditary ataxia with onset in adulthood; Hereditary ataxia - adult onset; R54 |
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Hereditary ataxia with onset in adulthood v3.16 | PRDX3 | Achchuthan Shanmugasundram Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia (early onset, mild to moderate, progressive) to Spinocerebellar ataxia, autosomal recessive 32, OMIM:619862 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.15 | FGF14_GAA | Eleanor Williams Phenotypes for STR: FGF14_GAA were changed from Late-onset cerebellar ataxia; Episodic features; Nystagmus to Late-onset cerebellar ataxia; Episodic features; Nystagmus; Spinocerebellar ataxia 27B, late-onset, OMIM:620174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.14 | FGF14_GAA | Eleanor Williams Publications for STR: FGF14_GAA were set to PMID: 36516086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.13 | FGF14_GAA | Eleanor Williams Classified STR: FGF14_GAA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.13 | FGF14_GAA | Eleanor Williams Added comment: Comment on list classification: Promoting to amber but there is sufficient evidence to promote to green following GMS review, and configuration in the Rare Disease analysis pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.13 | FGF14_GAA | Eleanor Williams Str: fgf14_gaa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.12 | FGF14_GAA |
Eleanor Williams Tag Q1_23_promote_green tag was added to STR: FGF14_GAA. Tag Q1_23_expert_review tag was added to STR: FGF14_GAA. Tag Q1_23_NHS_review tag was added to STR: FGF14_GAA. |
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Hereditary ataxia with onset in adulthood v3.12 | FGF14_GAA | Eleanor Williams reviewed STR: FGF14_GAA: Rating: ; Mode of pathogenicity: None; Publications: 36516086, 36493768; Phenotypes: Spinocerebellar ataxia 27B, late-onset, OMIM:620174; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.12 | FGF14_GAA |
Philip Twiss STR: FGF14_GAA was added STR: FGF14_GAA was added to Hereditary ataxia - adult onset. Sources: Literature Mode of inheritance for STR: FGF14_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FGF14_GAA were set to PMID: 36516086 Phenotypes for STR: FGF14_GAA were set to Late-onset cerebellar ataxia; Episodic features; Nystagmus Penetrance for STR: FGF14_GAA were set to Complete Review for STR: FGF14_GAA was set to AMBER Added comment: New STR disease loci reported to account for significant number of dominant late onset ataxia cases. Not current standard of care therefore no diagnostic accredited PCR assays available currently in UK. Sources: Literature |
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Hereditary ataxia with onset in adulthood v3.12 | SPTAN1 | Achchuthan Shanmugasundram Classified gene: SPTAN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.12 | SPTAN1 | Achchuthan Shanmugasundram Gene: sptan1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.11 | SPTAN1 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SPTAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.11 | SPTAN1 |
Achchuthan Shanmugasundram gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary ataxia - adult onset. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 33790315; 35150594; 36331550; 36408834 Phenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 Review for gene: SPTAN1 was set to GREEN Added comment: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with adult-onset ataxia and was also supported by functional studies including results from mouse model. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, four unrelated patients displaying p.Lys2083del variant were reported with cerebellar ataxia, of these two had early-onset, one had juvenile-onset and one had adult-onset. In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (from three families) were presented with complex HA/HSP and two were presented with pure HA. The two patients presented with pure ataxia had adult-onset. A 33-year old Korean woman identified with SPTAN1 variant (p.Lys2083del) was reported with cerebellar ataxia in PMID:36408834, being the first reported case of SPTAN1-related cerebellar ataxia. In addition, a strain of C57BL/6J mice harbouring a single point mutation in Sptan1 (c.3293G > A/ p.Arg1098Gln) with reduced CaM affinity and intrinsically enhanced sensitivity to calpain proteolysis was reported in PMID:33790315. Homozygotes are embryonically lethal and heterozygotes develop a progressive ataxia. Sources: Literature |
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Hereditary ataxia with onset in adulthood v3.10 | GLRB |
Mafalda Gomes Tag Q3_21_expert_review was removed from gene: GLRB. Tag Q3_21_phenotype was removed from gene: GLRB. Tag Q2_22_rating was removed from gene: GLRB. |
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Hereditary ataxia with onset in adulthood v3.10 | PRDX3 | Mafalda Gomes Tag Q1_22_rating was removed from gene: PRDX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | PEX6 | Mafalda Gomes Tag Q1_22_MOI was removed from gene: PEX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | NKX2-1 | Mafalda Gomes Tag Q1_22_MOI was removed from gene: NKX2-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | CLCN2 | Mafalda Gomes Tag Q4_21_MOI was removed from gene: CLCN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | STUB1 | Mafalda Gomes Tag Q3_22_MOI was removed from gene: STUB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | GLRB | Mafalda Gomes reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | PRDX3 | Mafalda Gomes reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | PEX6 | Mafalda Gomes commented on gene: PEX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | NKX2-1 | Mafalda Gomes commented on gene: NKX2-1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | CLCN2 | Mafalda Gomes commented on gene: CLCN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.10 | STUB1 | Mafalda Gomes commented on gene: STUB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.9 | STUB1 | Mafalda Gomes Mode of inheritance for gene STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.9 | PRDX3 |
Mafalda Gomes Source NHS GMS was added to PRDX3. Source Expert Review Green was added to PRDX3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v3.9 | PEX6 | Mafalda Gomes Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.9 | NKX2-1 | Mafalda Gomes Mode of inheritance for gene NKX2-1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.9 | CLCN2 | Mafalda Gomes Mode of inheritance for gene CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.8 | UCHL1 | Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.7 | UCHL1 | Sarah Leigh edited their review of gene: UCHL1: Added comment: 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 UCHL1 variants. The variants included 13 heterozygous loss-of-function variants (15 families) and a heterozygous in-frame insertion (3 families). 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).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.7 | UCHL1 | Sarah Leigh Publications for gene: UCHL1 were set to 23359680; 28007905; 29735986; 32656641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.6 | TUBB2B | Arina Puzriakova Phenotypes for gene: TUBB2B were changed from Complex cortical dysplasia with other brain abnormalities 7, 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.5 | ATP2B3 | Dmitrijs Rots reviewed gene: ATP2B3: Rating: ; Mode of pathogenicity: None; Publications: 36207321, 28807751, 25953895; Phenotypes: Ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.5 | SLC25A46 | Achchuthan Shanmugasundram Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, 616505 to Cerebellar ataxia, MONDO:0000437; Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.4 | SLC25A46 | Achchuthan Shanmugasundram Publications for gene: SLC25A46 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.3 | SLC25A46 | Achchuthan Shanmugasundram reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168012, 28376086, 28558379, 28934388; Phenotypes: Adult-onset ataxia, Cerebellar ataxia, MONDO:0000437, Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.3 | COQ4 | Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: COQ4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.3 | COQ4 | Achchuthan Shanmugasundram Classified gene: COQ4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.3 | COQ4 | Achchuthan Shanmugasundram Gene: coq4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.2 | COQ4 |
Achchuthan Shanmugasundram gene: COQ4 was added gene: COQ4 was added to Hereditary ataxia - adult onset. Sources: Literature Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 36047608 Phenotypes for gene: COQ4 were set to Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 Review for gene: COQ4 was set to GREEN Added comment: Comment on classification of this gene: The rating for this gene should be added as GREEN, as this gene has been implicated in adult-onset ataxia, as identified from biallelic variants from three unrelated individuals/ families. Six patients from four families with bi-allelic variants were reported with adult-Onset ataxia-spasticity spectrum phenotype. Out of these, five patients from three families with bi-allelic variants (c.305G>A & c.473G>A, c.434G>A & c.437T>G, c.202+4A>C & c.202+4A>C) were identified with gait and/or limb ataxia. The severity of the phenotype ranged from mild (c.305G>A & c.473G>A) to more severe (c.202+4A>C & c.202+4A>C ) and the age of onset ranged from 15 to 34 (PMID:36047608). COQ4 was not associated with adult-onset ataxia-spasticity spectrum disease in OMIM or Gene2Phenotype. However, functional studies performed in patient-derived fibroblasts, yeasts and zebrafish larvae confirms the role of COQ4 in brain development. The coq4 F0 CRISPR zebrafish line particularly showed motor defects and cell reduction in a specific area of the hindbrain, a region reminiscent of the human cerebellum (PMID:33704555). Sources: Literature |
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Hereditary ataxia with onset in adulthood v3.1 | Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v3.0 | Eleanor Williams promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.169 | TERT | Arina Puzriakova Publications for gene: TERT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.168 | TERT | Arina Puzriakova Classified gene: TERT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.168 | TERT |
Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update as there is no link with adult-onset ataxia associated with this gene. Cerebellar hypoplasia (but without ataxia) has been identified in 2/5 unrelated AR cases to date, who displayed a phenotype of Hoyeraal-Hreidarsson syndrome, a severe variant of DKC (PMIDs: 17785587; 34890115). Furthermore, literature search only revealed a single adult patient (31 years old) who did not present any signs of ataxia (PMID: 18042801). |
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Hereditary ataxia with onset in adulthood v2.168 | TERT | Arina Puzriakova Gene: tert has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.167 | TERT | Arina Puzriakova Tag Q4_22_demote_red tag was added to gene: TERT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.167 | TERT | Arina Puzriakova Phenotypes for gene: TERT were changed from Dyskeratosis congenita, 613989 to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.166 | GRN | Arina Puzriakova changed review comment from: Comment on list classification: This gene should be promoted to Green at the next GMS panel update.; to: Comment on list classification: This gene should be promoted to Green at the next GMS panel update. Multiple cases reported with variable ages of onset but mostly in adulthood. Cerebellar ataxia with cerebellar atrophy on brain MRI is a prominent feature detected in almost all cases with homozygous pathogenic variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.166 | GRN | Arina Puzriakova Entity copied from Neuronal ceroid lipofuscinosis v1.25 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.166 | GRN |
Arina Puzriakova gene: GRN was added gene: GRN was added to Hereditary ataxia - adult onset. Sources: London North GLH,NHS GMS,Expert Review Amber Q4_22_promote_green tags were added to gene: GRN. Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRN were set to 22608501; 27021778; 28000352; 28404863; 30922528; 31855245 Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866 |
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Hereditary ataxia with onset in adulthood v2.165 | GRM1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel review. 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 with onset in adulthood v2.165 | GRM1 | Arina Puzriakova Mode of inheritance for gene: GRM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.164 | GRM1 | Arina Puzriakova Publications for gene: GRM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.163 | GRM1 | Arina Puzriakova Tag Q4_22_MOI tag was added to gene: GRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.163 | 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 with onset in adulthood v2.163 | GRM1 | Arina Puzriakova Phenotypes for gene: GRM1 were changed from Spinocerebellar ataxia, autosomal recessive 13; Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 to Spinocerebellar ataxia 44, OMIM:617691; Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.162 | STUB1 | Sarah Leigh Tag Q3_22_MOI tag was added to gene: STUB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.162 | STUB1 | Sarah Leigh reviewed gene: STUB1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.162 | TBP_CAG | Sarah Leigh Publications for STR: TBP_CAG were set to 20301611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.161 | STUB1 | Sarah Leigh Phenotypes for gene: STUB1 were changed from Autosomal recessive spinocerebellar ataxia type 16, 615768; 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 with onset in adulthood v2.160 | STUB1 | Sarah Leigh Publications for gene: STUB1 were set to 32713943; 33564152; 35493319; 34906452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.159 | STUB1 | Sarah Leigh Publications for gene: STUB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.158 | STUB1 | James Polke reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32713943, 33564152, 35493319, 34906452; Phenotypes: Cerebellar Ataxia, Dementia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.158 | GLRB | Sarah Leigh Tag Q2_22_rating tag was added to gene: GLRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.158 | MT-ATP6 | Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.158 | AFG3L2 | Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.157 | 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; Autosomal recessive spinocerebellar ataxia type 1, 606002; Ataxia-ocular apraxia-2 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.156 | SETX | Sarah Leigh reviewed gene: SETX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.156 | OPA1 | Arina Puzriakova Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 to Optic atrophy plus syndrome, OMIM:125250; Behr syndrome, OMIM:210000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.155 | MFN2 | Arina Puzriakova Phenotypes for gene: MFN2 were changed from Dominant optic atrophy plus to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.154 | PEX6 |
Sarah Leigh Mode of pathogenicity for gene PEX6 was changed from to Other Penetrance for gene PEX6 was set from to None |
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Hereditary ataxia with onset in adulthood v2.153 | PEX6 | Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.153 | PEX6 | Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.153 | PEX6 | Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.153 | PEX6 | Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.152 | PEX6 | Sarah Leigh Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A, 614862; Peroxisome biogenesis disorder 4B, 614863 to Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.151 | PEX6 | Sarah Leigh Publications for gene: PEX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.150 | SPTBN2 | Arina Puzriakova Phenotypes for gene: SPTBN2 were changed from Spinocerebellar Ataxia, Dominant; Autosomal recessive spinocerebellar ataxia 14, 615386; Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar ataxia 5; Spinocerebellar ataxia 5, 600224; 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 with onset in adulthood v2.149 | ABCB7 | Eleanor Williams Added comment: Comment on mode of inheritance: Changed the mode of inheritance now this gene has been demoted to amber on this panel and removed the Q3_21_MOI tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.149 | ABCB7 | Eleanor Williams 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 with onset in adulthood v2.148 | ABCB7 | Eleanor Williams Tag Q3_21_MOI was removed from gene: ABCB7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.148 | ISCA-37478-Gain | Eleanor Williams commented on Region: ISCA-37478-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.148 | ISCA-37468-Loss | Arina Puzriakova commented on Region: ISCA-37468-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.148 | ISCA-37404-Loss | Arina Puzriakova commented on Region: ISCA-37404-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.148 | ISCA-37478-Loss | Ivone Leong commented on Region: ISCA-37478-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.148 | ISCA-37468-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37468-Loss was changed from None to . Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60. |
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Hereditary ataxia with onset in adulthood v2.148 | ISCA-37478-Loss |
Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728. Triplosensitivity Score for ISCA-37478-Loss was changed from None to . Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60. |
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Hereditary ataxia with onset in adulthood v2.148 | 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. |
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Hereditary ataxia with onset in adulthood v2.148 | 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. |
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Hereditary ataxia with onset in adulthood v2.147 | HTT_CAG | Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | TBP_CAG | Arina Puzriakova commented on STR: TBP_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | PPP2R2B_CAG | Arina Puzriakova commented on STR: PPP2R2B_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | NOP56_GGCCTG | Arina Puzriakova commented on STR: NOP56_GGCCTG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | FXN_GAA | Sarah Leigh commented on STR: FXN_GAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | CSTB_CCCCGCCCCGCG | Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | FMR1_CGG | Sarah Leigh commented on STR: FMR1_CGG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | CACNA1A_CAG | Eleanor Williams commented on STR: CACNA1A_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATXN7_CAG | Eleanor Williams commented on STR: ATXN7_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATXN3_CAG | Eleanor Williams commented on STR: ATXN3_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATXN3 | Eleanor Williams Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATXN3 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATXN3 | Eleanor Williams commented on gene: ATXN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATXN2_CAG | Ivone Leong commented on STR: ATXN2_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATXN10_ATTCT | Ivone Leong commented on STR: ATXN10_ATTCT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATXN1_CAG | Ivone Leong commented on STR: ATXN1_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.147 | ATN1_CAG | Ivone Leong commented on STR: ATN1_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.145 | HTT_CAG | Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.145 | 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. |
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Hereditary ataxia with onset in adulthood v2.145 | FMR1_CGG | Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.145 | CSTB_CCCCGCCCCGCG | Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.145 | CACNA1A_CAG | Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.145 | 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. |
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Hereditary ataxia with onset in adulthood v2.145 | ATXN3_CAG | Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.145 | 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. |
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Hereditary ataxia with onset in adulthood v2.145 | ATXN10_ATTCT | Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.145 | 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. |
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Hereditary ataxia with onset in adulthood v2.145 | ATN1_CAG | Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ADGRG1 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: ADGRG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | AP1S2 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: AP1S2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | XRCC1 | Eleanor Williams Tag Q2_21_expert_review was removed from gene: XRCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | VPS41 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: VPS41. Tag Q2_21_NHS_review was removed from gene: VPS41. |
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Hereditary ataxia with onset in adulthood v2.144 | UCHL1 | Eleanor Williams Tag Q2_21_expert_review was removed from gene: UCHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | TSEN15 | Eleanor Williams Tag Q2_21_rating was removed from gene: TSEN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | TBC1D23 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: TBC1D23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | SLC9A1 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: SLC9A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | SCYL1 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: SCYL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | RORA | Eleanor Williams Tag Q2_21_phenotype was removed from gene: RORA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | PRICKLE1 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: PRICKLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | MAPK8IP3 | Eleanor Williams Tag Q4_21_rating was removed from gene: MAPK8IP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ERCC4 | Eleanor Williams Tag Q2_21_rating was removed from gene: ERCC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | EBF3 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: EBF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | CLP1 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | CHMP1A | Eleanor Williams Tag Q2_21_phenotype was removed from gene: CHMP1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | B4GAT1 | Eleanor Williams Tag Q3_21_rating was removed from gene: B4GAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | AUH | Eleanor Williams Tag Q2_21_rating was removed from gene: AUH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ATP8A2 |
Eleanor Williams Tag Q2_21_phenotype was removed from gene: ATP8A2. Tag Q2_21_expert_review was removed from gene: ATP8A2. |
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Hereditary ataxia with onset in adulthood v2.144 | AMPD2 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: AMPD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ADPRHL2 | Eleanor Williams Tag Q2_21_expert_review was removed from gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ABCB7 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: ABCB7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | XRCC1 | Sarah Leigh commented on gene: XRCC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | VPS41 | Sarah Leigh commented on gene: VPS41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | UCHL1 | Sarah Leigh commented on gene: UCHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | TSEN15 | Sarah Leigh commented on gene: TSEN15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | TBC1D23 | Sarah Leigh commented on gene: TBC1D23: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | SLC9A1 | Sarah Leigh commented on gene: SLC9A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | SCYL1 | Sarah Leigh commented on gene: SCYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | RORA | Sarah Leigh commented on gene: RORA: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | PRICKLE1 | Sarah Leigh commented on gene: PRICKLE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | MAPK8IP3 | Sarah Leigh commented on gene: MAPK8IP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ERCC4 | Sarah Leigh commented on gene: ERCC4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | EBF3 | Sarah Leigh commented on gene: EBF3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | CLP1 | Sarah Leigh commented on gene: CLP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | CHMP1A | Sarah Leigh commented on gene: CHMP1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | B4GAT1 | Sarah Leigh commented on gene: B4GAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | AUH | Sarah Leigh commented on gene: AUH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ATP8A2 | Sarah Leigh commented on gene: ATP8A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | AP1S2 | Sarah Leigh commented on gene: AP1S2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | AMPD2 | Sarah Leigh commented on gene: AMPD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ADPRHL2 | Sarah Leigh commented on gene: ADPRHL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ADGRG1 | Sarah Leigh commented on gene: ADGRG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | ABCB7 | Sarah Leigh commented on gene: ABCB7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.143 | UCHL1 |
Eleanor Williams Source Expert Review Amber was added to UCHL1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | TSEN15 |
Eleanor Williams Source Expert Review Red was added to TSEN15. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | TBC1D23 |
Eleanor Williams Source Expert Review Amber was added to TBC1D23. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | SLC9A1 |
Eleanor Williams Source Expert Review Amber was added to SLC9A1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | SCYL1 |
Eleanor Williams Source Expert Review Amber was added to SCYL1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | RORA |
Eleanor Williams Source Expert Review Amber was added to RORA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | PRICKLE1 |
Eleanor Williams Source Expert Review Amber was added to PRICKLE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | MAPK8IP3 |
Eleanor Williams Source Expert Review Red was added to MAPK8IP3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | ERCC4 |
Eleanor Williams Source Expert Review Green was added to ERCC4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | EBF3 |
Eleanor Williams Source Expert Review Amber was added to EBF3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | CLP1 |
Eleanor Williams Source Expert Review Amber was added to CLP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | CHMP1A |
Eleanor Williams Source Expert Review Amber was added to CHMP1A. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | B4GAT1 |
Eleanor Williams Source Expert Review Red was added to B4GAT1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | AUH |
Eleanor Williams Source Expert Review Green was added to AUH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | ATP8A2 |
Eleanor Williams Source Expert Review Amber was added to ATP8A2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | AP1S2 |
Eleanor Williams Source Expert Review Amber was added to AP1S2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | AMPD2 |
Eleanor Williams Source Expert Review Amber was added to AMPD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | ADPRHL2 |
Eleanor Williams Source Expert Review Amber was added to ADPRHL2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | ADGRG1 |
Eleanor Williams Source Expert Review Amber was added to ADGRG1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.143 | ABCB7 |
Eleanor Williams Source Expert Review Amber was added to ABCB7. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.142 | TMEM106B | Eleanor Williams Publications for gene: TMEM106B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.141 | TMEM106B | Eleanor Williams Tag for-review was removed from gene: TMEM106B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.141 | TMEM106B | Sarah Leigh commented on gene: TMEM106B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.140 | TMEM106B |
Eleanor Williams Source Expert Review Amber was added to TMEM106B. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.139 | NKX2-1 | Sarah Leigh reviewed gene: NKX2-1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.139 | NKX2-1 | Sarah Leigh Tag Q1_22_MOI tag was added to gene: NKX2-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.139 | ATP8A2 |
Sarah Leigh changed review comment from: Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. However, table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, where a few cases occur after adolescence. This provides some justification for this gene being green on this adult onset panel. ; to: Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. Table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, although cases are seen after adolescence, where data is available the onset is before 5 years of age. However, the report of a 27 year old male, without age of onset data (PMID: 22892528), provides some justification for this gene being green on this adult onset panel. |
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Hereditary ataxia with onset in adulthood v2.139 | MVK | Arina Puzriakova Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria, OMIM:610377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.138 | PRDX3 | Arina Puzriakova Tag Q1_22_rating tag was added to gene: PRDX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.138 | PRDX3 | Arina Puzriakova Classified gene: PRDX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.138 | PRDX3 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to promote this gene to Green at the next GMS panel update. Rebelo et al., 2021 (PMID: 33889951) reported five simplex families with biallelic variants in PRDX3 leading to complete loss of its encoded protein. Clinical presentation in all individuals predominantly consisted of gait and upper limb ataxia and cerebellar atrophy. Age of onset was at 13, 15, 21, 22 and 23 years of age. Pathogenicity supported by molecular studies using patient fibroblasts, cerebellar medulloblastoma cells and Drosophila. |
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Hereditary ataxia with onset in adulthood v2.138 | PRDX3 | Arina Puzriakova Gene: prdx3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.137 | HEXB | Arina Puzriakova Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800; Sandhoff disease, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.136 | B4GAT1 | Ivone Leong Tag Q3_21_rating tag was added to gene: B4GAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.136 | MME | Arina Puzriakova Publications for gene: MME were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.135 | MME | Arina Puzriakova Phenotypes for gene: MME were changed from Spinocerebellar ataxia type 43, 617018 to ?Spinocerebellar ataxia 43, OMIM:617018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.134 | VPS41 | Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: VPS41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.134 | RFC1 | Eleanor Williams Classified gene: RFC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.134 | RFC1 | Eleanor Williams Added comment: Comment on list classification: Changing the rating from amber to red so that it is clear that this gene should not be added to the panel as it is an STR within an intron of this gene that is associated with the neuropathy phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.134 | RFC1 | Eleanor Williams Gene: rfc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.133 | RFC1 |
Dmitrijs Rots changed review comment from: Only STR in this gene is associated with CANVAS / ataxia. Addition of this gene to the panel will result only in unnecessary load of RFC1 SNV/indel/CNV analysis, which are not related to human disorder.; to: Only STR in this gene is associated with CANVAS / ataxia. Addition of this gene to the panel will result only in unnecessary load of RFC1 SNV/indel/CNV analysis, which are not related to human disorder. Additionallly, RFC1 repeat expansion, is commonly associated with sensory neuropathy (at the moment of presentation usually without clinically prominent ataxia) ,so the STR should be added to the neuropathy panel as well, not just ataxia (PMID: 33969391). |
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Hereditary ataxia with onset in adulthood v2.133 | RFC1 | Dmitrijs Rots reviewed gene: RFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.133 | RFC1 | Eleanor Williams Classified gene: RFC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.133 | RFC1 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but noting that it is repeat expansions within an intron that is associated with the CANVAS phenotype, not SNVs within the protein coding region. Added to the list of STRs to be added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.133 | RFC1 | Eleanor Williams Gene: rfc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.132 | RFC1 | Eleanor Williams Phenotypes for gene: RFC1 were changed from Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, MONDO:0013809; chronic idiopathic axonal polyneuropathy; chronic polyneuropathy, MONDO:0003335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.131 | RFC1 | Eleanor Williams Publications for gene: RFC1 were set to 30926972 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.130 | RFC1 | Eleanor Williams Tag STR tag was added to gene: RFC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.130 | RFC1 |
Eleanor Williams changed review comment from: The gene is associated with Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) #614575 (AR) with two repeat expansions cited as the allelic variants. PMID: 30926972 - Cortese et al 2019 - found a recessive intronic AAGGG repeat expansion in the RFC1 gene as a cause of familial CANVAS in 11 families. 4 SNPs around RFC1 were shared by all individuals except in family 5, suggesting a founder haplotype. They found an additional 33 sporadic cases carrying the recessive AAGGG repeat expansion in a cohort of 150 patients diagnosed with sporadic late-onset ataxia (22%). They also note that all sporadic cases with the repeat expansion, except for one individual, shared the same haplotype as familial CANVAS cases. Although the expansion size varied across different families, ranging from around 400 to 2000 repeats, in the majority of cases approximately 1000 repeats were observed. In 304 healthy controls, 4/608 chromosomes (0.7%) chromosomes carried an AAGGG expansion in the heterozygous state. 3 other conformations were observed: (AAAAG)11 (75.5%); (AAAAG)exp(13.0%); and (AAAGG)exp (7.9%). They did not observe a reduced level of RFC1 expression at either the transcript or the protein level in CANVAS patients. PMID: 31824583 - Akçimen et al 2019 - looked at RFC1 repeat expansions in cohort of Brazilian cases and two cohorts of Canadian cases. 1 Brazilian and 1 Canadian case were found to carry the causative biallelic AAGGG repeat expansion. Two novel repeat sequences were found in the heterozygous state; AAGAG and AGAGG. PMID: 32851396 - Beecroft et al 2020 - describe a (AAAGG)10-25(AAGGG)exp found in New Zealand Māori and Cook Island Māori individuals which was the cause of CANVAS in all patients. Patients in 2 families also had small number of repeats of the benign variant allele (AAAGG)4-6 at the distal end of the RFC1 pathogenic expansion. The 4 patients with WGS data were found to share the same core haplotype as described in European populations in Cortese et al 2019, plus an additional region. PMID: 32582864 - Syriani et al 2020 - 29 patients from North America were identified with biallelic repeat expansions in RFC1 (AAGGG) (3.2% of total). Of these 29 patients, 8 (28%) had a clinical diagnosis of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), 14 had cerebellar ataxia with neuropathy (48%), 4 had pure cerebellar ataxia (14%). PMID: 33969391 - Curro et al 2021 - retrospectively identified 225 patients diagnosed with chronic idiopathic axonal polyneuropathy (125 sensory neuropathy, 100 sensory-motor neuropathy). Patients previously diagnosed with CANVAS or with a family history of CANVAS were not included. 43 patients (34%) with sensory neuropathy had biallelic AAGGG repeat expansions in RFC1and in none with sensory-motor neuropathy.; to: The gene is associated with Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) #614575 (AR) with two repeat expansions cited as the allelic variants. There is data to suggest a common haplotype between most cases but this appears to be quite ancient (25000 yo) and so the cases from individuals from different countries can probably be counted as being unrelated. The mechanism of action of this intronic repeat expansion is not yet known. = AAGGG repeat expansion = PMID: 30926972 - Cortese et al 2019 - found a recessive intronic AAGGG repeat expansion in the RFC1 gene as a cause of familial CANVAS in 11 families. 4 SNPs around RFC1 were shared by all individuals except in family 5, suggesting a founder haplotype. They found an additional 33 sporadic cases carrying the recessive AAGGG repeat expansion in a cohort of 150 patients diagnosed with sporadic late-onset ataxia (22%). They also note that all sporadic cases with the repeat expansion, except for one individual, shared the same haplotype as familial CANVAS cases. Although the expansion size varied across different families, ranging from around 400 to 2000 repeats, in the majority of cases approximately 1000 repeats were observed. In 304 healthy controls, 4/608 chromosomes (0.7%) chromosomes carried an AAGGG expansion in the heterozygous state. 3 other conformations were observed: (AAAAG)11 (75.5%); (AAAAG)exp(13.0%); and (AAAGG)exp (7.9%). They did not observe a reduced level of RFC1 expression at either the transcript or the protein level in CANVAS patients. PMID: 31824583 - Akçimen et al 2019 - looked at RFC1 repeat expansions in cohort of Brazilian cases and two cohorts of Canadian cases. 1 Brazilian and 1 Canadian case were found to carry the causative biallelic AAGGG repeat expansion. Two novel repeat sequences were found in the heterozygous state; AAGAG and AGAGG. PMID: 31230722 - Rafehi et al 2019 - bioinformatics paper looking at using Expansion Hunter de novo on WGS data but also reports RFC1 (AAGGG)exp in 18/22 CANVAS families. Also states that the core ancestral haplotype is estimated to have arisen in Europe more than twenty-five thousand years ago. PMID: 32851396 - Beecroft et al 2020 - describe a (AAAGG)10-25(AAGGG)exp found in New Zealand Māori and Cook Island Māori individuals which was the cause of CANVAS in all patients. Patients in 2 families also had small number of repeats of the benign variant allele (AAAGG)4-6 at the distal end of the RFC1 pathogenic expansion. The 4 patients with WGS data were found to share the same core haplotype as described in European populations in Cortese et al 2019, plus an additional region. PMID: 32582864 - Syriani et al 2020 - 29 patients from North America were identified with biallelic repeat expansions in RFC1 (AAGGG) (3.2% of total). Of these 29 patients, 8 (28%) had a clinical diagnosis of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), 14 had cerebellar ataxia with neuropathy (48%), 4 had pure cerebellar ataxia (14%). PMID: 32694621 - Tsuchiya et al 2020 - found intronic (AAGGG) repeat expansions in RFC1 in 3 (12%) of the familial Japanese patients with CANVAS and 1 (8.5%) of the sporadic ones. PMID: 33969391 - Curro et al 2021 - retrospectively identified 225 patients diagnosed with chronic idiopathic axonal polyneuropathy (125 sensory neuropathy, 100 sensory-motor neuropathy). Patients previously diagnosed with CANVAS or with a family history of CANVAS were not included. 43 patients (34%) with sensory neuropathy had biallelic AAGGG repeat expansions in RFC1and in none with sensory-motor neuropathy. = ACAGG repeat expansion = PMID: 33103729 - Scriba et al 2020 - report 3 patients with CANVAS from 2 families (2 brothers who reside in Indonesia, but are of Chinese descent, and a isolated female proband from the island nation of Niue) , with a novel, likely pathogenic RFC1 repeat motif (ACAGG)exp. These patients show additional clinical features including fasciculations and elevated creatine kinase levels. They share the core haplotype described in Cortese et al 2019 and Beecroft et al 2020. The RFC1 (ACAGG) motif was found in 7 individuals from 26 745 samples from gnomAD v3; 2 African, 4 South Asian, 1 East Asian. PMID: 32694621 - Tsuchiya et al 2020 - reports a RFC1 (ACAGG) exp in 1 Japanese individual with sporadic CANVAS. |
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Hereditary ataxia with onset in adulthood v2.130 | RFC1 | Eleanor Williams reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30926972, 31824583, 32851396, 32582864, 33969391; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575, cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, MONDO:0013809, chronic idiopathic axonal polyneuropathy, chronic polyneuropathy, MONDO:0003335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.130 | MAPK8IP3 | Arina Puzriakova Classified gene: MAPK8IP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.130 | MAPK8IP3 | Arina Puzriakova Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 3 subjects displayed cerebellar atrophy on brain MRI and 2 had ataxia. However, this is a childhood onset condition and literature search did not reveal any evidence of adult onset ataxia associated with this gene. Therefore, MAPK8IP3 should be downgraded from Green here and added to the childhood cerebellar anomalies panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.130 | MAPK8IP3 | Arina Puzriakova Gene: mapk8ip3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.129 | MAPK8IP3 |
Arina Puzriakova Publications for gene: MAPK8IP3 were updated from to 30612693; 30945334 Tag Q4_21_rating tag was added to MAPK8IP3. |
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Hereditary ataxia with onset in adulthood v2.128 | MAPK8IP3 | Arina Puzriakova Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities, 618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.127 | EXOSC3 | Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia type 1B, 614678; Pontocerebellar hypoplasia, type 1B, 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.126 | RFC1 | Michael Bonello reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32582864, 31824583, 33969391; Phenotypes: CANVAS Syndrome, Cerebellar ataxia, Idiopathic Sensory Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.126 | FXN_GAA | Arina Puzriakova Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.125 | NOP56_GGCCTG | Arina Puzriakova Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.124 | NOP56 | Arina Puzriakova Phenotypes for gene: NOP56 were changed from Spinocerebellarataxia36,614153 to Spinocerebellar ataxia 36, OMIM:614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.123 | PPP2R2B | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.123 | PPP2R2B | Arina Puzriakova Mode of inheritance for gene: PPP2R2B was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.122 | PPP2R2B | Arina Puzriakova Phenotypes for gene: PPP2R2B were changed from Spinocerebellarataxia12,604326 to Spinocerebellar ataxia 12, OMIM:604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.121 | PPP2R2B | Arina Puzriakova Tag watchlist was removed from gene: PPP2R2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.121 | PPP2R2B_CAG | Arina Puzriakova Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.120 | TBP_CAG | Arina Puzriakova Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.119 | TBP | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.119 | TBP | Arina Puzriakova Mode of inheritance for gene: TBP was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.118 | TBP | Arina Puzriakova Phenotypes for gene: TBP were changed from Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 to Spinocerebellar ataxia 17, OMIM:607136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.117 | HTT | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. Biallelic variants not relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.117 | HTT | Arina Puzriakova Mode of inheritance for gene: HTT was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.116 | HTT | Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease 143100; Lopes-Maciel-Rodan syndrome, 617432 to Huntington disease, OMIM:143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.115 | HTT_CAG | Arina Puzriakova Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.114 | 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 with onset in adulthood v2.113 | FMR1 | Arina Puzriakova Phenotypes for gene: FMR1 were changed from FragileXtremor/ataxiasyndrome,300623; Fragile X tremor/ataxia syndrome; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); males with a tremor phenotype to Fragile X tremor/ataxia syndrome, OMIM:300623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.112 | ATXN1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.112 | ATXN1 | Arina Puzriakova Mode of inheritance for gene: ATXN1 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.111 | ATXN1 | Arina Puzriakova Phenotypes for gene: ATXN1 were changed from Spinocerebellar ataxia 1, 164400; Spinocerebellarataxia1,164400 to Spinocerebellar ataxia 1, OMIM:164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.110 | ATXN1_CAG | Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.109 | CSTB | Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.109 | CSTB | Arina Puzriakova Phenotypes for gene: CSTB were changed from Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.108 | 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 with onset in adulthood v2.107 | CACNA1A | Arina Puzriakova Phenotypes for gene: CACNA1A were changed from SCA6, 183086; familial hemiplegic migraine type 1, 141500; Episodic ataxia, type 2; Spinocerebellar ataxia 6; Familial hemiplegic migraine 1, 141500; Episodic ataxia type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; episodic ataxia type 2 (EA2),108500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.106 | CACNA1A_CAG | Arina Puzriakova Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.105 | ATXN7_CAG | Arina Puzriakova Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.104 | ATXN7 | Arina Puzriakova Phenotypes for gene: ATXN7 were changed from Spinocerebellarataxia 7,164500; Spinocerebellar ataxia 7, 164500 to Spinocerebellar ataxia 7, OMIM:164500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.103 | ATXN7 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.103 | ATXN7 | Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.102 | ATXN3_CAG | Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.101 | ATXN3 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.101 | ATXN3 | Arina Puzriakova Mode of inheritance for gene: ATXN3 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.100 | ATXN3 | Arina Puzriakova Phenotypes for gene: ATXN3 were changed from Machado-Joseph disease, 109150 to Machado-Joseph disease, OMIM:109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.99 | ATXN2_CAG | Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.98 | ATXN2 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.98 | ATXN2 | Arina Puzriakova Mode of inheritance for gene: ATXN2 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.97 | ATXN2 | Arina Puzriakova Phenotypes for gene: ATXN2 were changed from Spinocerebellarataxia2, 183090; Spinocerebellar ataxia 2, 183090; {Amyotrophiclateralsclerosis,susceptibilityto,13},183090 to Spinocerebellar ataxia 2, OMIM:183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.96 | ATXN10_ATTCT | Arina Puzriakova Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.95 | ATXN10 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.95 | ATXN10 | Arina Puzriakova Mode of inheritance for gene: ATXN10 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.94 | ATXN10 | Arina Puzriakova Phenotypes for gene: ATXN10 were changed from Spinocerebellar ataxia 10, 603516; Spinocerebellarataxia10, 603516 to Spinocerebellar ataxia 10, OMIM:603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.93 | ATN1_CAG | Arina Puzriakova Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.92 | ATN1 | Arina Puzriakova Phenotypes for gene: ATN1 were changed from Dentato-pallidoluysian atrophy; Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.91 | ATN1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.91 | ATN1 | Arina Puzriakova Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.90 | B4GAT1 | Ivone Leong reviewed gene: B4GAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.90 | B4GAT1 | Ivone Leong Publications for gene: B4GAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.89 | AP1S2 | Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574 to Pettigrew syndrome, OMIM:304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.88 | CLCN2 | Arina Puzriakova Phenotypes for gene: CLCN2 were changed from {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 to Leukoencephalopathy with ataxia, OMIM:615651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.87 | CLCN2 | Arina Puzriakova Publications for gene: CLCN2 were set to 23707145; 19191339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.86 | CLCN2 | Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLCN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.86 | CLCN2 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be 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 with onset in adulthood v2.86 | CLCN2 | Arina Puzriakova Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.85 | PRPS1 |
Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to Hereditary ataxia - adult onset. Sources: Literature Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PRPS1 were set to 33898739; 28967191; 25491489 Phenotypes for gene: PRPS1 were set to Ataxia; deafness; eye disease Review for gene: PRPS1 was set to AMBER Added comment: PMID: 25491489: Heterozygous missense variant, loss of function - PRS enzyme deficiency showed. Proband and her mother have various degrees of ataxia (examinations at 34yrs and 70yrs, respectively), peripheral neuropathy and hearing loss beyond the ophthalmological symptoms, whereas the phenotype of the affected older sister (36yo) is currently confined to the eye and milder. PMID: 28967191 in one of the families, heterozygous variants in proband with hearing loss and ataxia developed in the proband in her forties, and ocular manifestations of retinal changes and disc pallor were first confirmed in the two affected daughters in their twenties. PMID: 33898739: Heterozygous de novo missense variant in a 30yo female individual, presented with a 5-year history of progressive ataxia. She also had congenital strabismus, infantile-onset hearing loss, and a retinal dystrophy with progressive visual loss for the past 10 years. Sources: Literature |
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Hereditary ataxia with onset in adulthood v2.85 | GLRB | Sarah Leigh reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.85 | GLRB |
Sarah Leigh Tag Q3_21_expert_review tag was added to gene: GLRB. Tag Q3_21_phenotype tag was added to gene: GLRB. |
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Hereditary ataxia with onset in adulthood v2.85 | GALC | Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease, 245200 to Krabbe disease, OMIM:245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.84 | CHP1 | Arina Puzriakova Entity copied from Hereditary ataxia v1.241 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.84 | CHP1 |
Arina Puzriakova gene: CHP1 was added gene: CHP1 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Literature watchlist tags were added to gene: CHP1. Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHP1 were set to 23904602; 29379881; 32787936 Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM:618438 |
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Hereditary ataxia with onset in adulthood v2.83 | KIF1C | Arina Puzriakova Publications for gene: KIF1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.82 | KIF1C | Arina Puzriakova Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive; Autosomal recessive spastic ataxia 2, 611302 to Spastic ataxia 2, autosomal recessive, OMIM:611302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.81 | ABCB7 | Arina Puzriakova Tag Q3_21_MOI tag was added to gene: ABCB7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.81 | PRDX3 |
Zornitza Stark gene: PRDX3 was added gene: PRDX3 was added to Hereditary ataxia - adult onset. Sources: Literature Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDX3 were set to 33889951 Phenotypes for gene: PRDX3 were set to Cerebellar ataxia (early onset, mild to moderate, progressive) Review for gene: PRDX3 was set to GREEN gene: PRDX3 was marked as current diagnostic Added comment: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex. Evolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres. The variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote with a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism. The families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense, suggestive of founder effect. Patient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity. PRDX3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated. Functional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species. In addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress. Sources: Literature |
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Hereditary ataxia with onset in adulthood v2.81 | ABCB7 | Ivone Leong reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.81 | ATM | Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 607585; Ataxia-Telangiectasia to Ataxia-telangiectasia, OMIM:208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.80 | XRCC1 | Arina Puzriakova edited their review of gene: XRCC1: 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 with onset in adulthood v2.80 | XRCC1 | Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: XRCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.80 | XRCC1 | Arina Puzriakova Classified gene: XRCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.80 | XRCC1 |
Arina Puzriakova Added comment: Comment on list classification: This gene will be flagged for GMS review to determine whether there is enough evidence to include XRCC1 on this panel as Green. Only one case with adult onset and the other two with onset in childhood, however inclusion may be justified to ensure identification of edge cases. ----- 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 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. |
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Hereditary ataxia with onset in adulthood v2.80 | XRCC1 | Arina Puzriakova Gene: xrcc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.79 | XRCC1 |
Arina Puzriakova Tag watchlist was removed from gene: XRCC1. Tag founder-effect tag was added to gene: XRCC1. |
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Hereditary ataxia with onset in adulthood v2.79 | XRCC1 | Arina Puzriakova Publications for gene: XRCC1 were set to 28002403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.78 | XRCC1 | Arina Puzriakova Phenotypes for gene: XRCC1 were changed from ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia; Autosomal recessive spinocerebellar ataxia 26, 617633 to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.77 | AUH | Ivone Leong Entity copied from White matter disorders - adult onset v1.21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.77 | AUH |
Ivone Leong gene: AUH was added gene: AUH was added to Hereditary ataxia - adult onset. Sources: Expert list,Expert Review Amber Q2_21_rating tags were added to gene: AUH. Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 20855850; 17130438 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, OMIM:250950 |
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Hereditary ataxia with onset in adulthood v2.76 | SCN8A | Arina Puzriakova Publications for gene: SCN8A were set to 26677014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.75 | SCN8A | Arina Puzriakova Phenotypes for gene: SCN8A were changed from epilepsy; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080; 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 with onset in adulthood v2.74 | RUBCN | Arina Puzriakova Phenotypes for gene: RUBCN were changed from Autosomal recessive spinocerebellar ataxia 15, 615705 to Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.73 | VPS41 | Arina Puzriakova Publications for gene: VPS41 were set to 32367058; 33875678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.72 | VPS41 | Arina Puzriakova Classified gene: VPS41 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.72 | VPS41 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by James Polke (North Thames GLH). There are sufficient unrelated families with ataxia (9/11 patients) and VPS41 variants to rate Green - but this appears to be a childhood-onset condition. There is one older subject (22-year-old male - PMID:33764426) for whom the age of onset is not indicated but can probably be inferred by comparison with other cases. Inclusion may allow for identification of edge cases, but overall VPS41 will be flagged for GMS review to assess whether this is justified. |
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Hereditary ataxia with onset in adulthood v2.72 | VPS41 | Arina Puzriakova Gene: vps41 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.71 | VPS41 |
Arina Puzriakova Tag Q2_21_rating was removed from gene: VPS41. Tag Q2_21_expert_review tag was added to gene: VPS41. |
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Hereditary ataxia with onset in adulthood v2.71 | VPS41 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: VPS41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.71 | VPS41 | Arina Puzriakova reviewed gene: VPS41: Rating: AMBER; Mode of pathogenicity: None; Publications: 32808683, 33764426, 33851776; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.71 | AMPD2 | Zornitza Stark edited their review of gene: AMPD2: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.71 | VPS41 |
James Polke gene: VPS41 was added gene: VPS41 was added to Hereditary ataxia - adult onset. Sources: NHS GMS Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS41 were set to 32367058; 33875678 Phenotypes for gene: VPS41 were set to Generalised Neurodevelopmental disorder; Ataxia; Dystonia Review for gene: VPS41 was set to GREEN Added comment: 32808683: Single individual reported with homozygous canonical splice site variant resulting in exon 7 skipping, and global developmental delay and generalized dystonia. He attained a few words and voluntary limb movements but never sat unsupported. He had pale optic discs and an axonal neuropathy. From 6 years of age, his condition began to deteriorate, with reduced motor abilities and alertness. An MRI of the brain showed atrophy of the superior cerebellar vermis and slimming of the posterior limb of the corpus callosum. VPS41 is component of the HOPS complex and other genes in the complex have been implicated in movement disorders. PMID 33764426: Additional 9 individuals from 5 unrelated families reported. Sources: NHS GMS |
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Hereditary ataxia with onset in adulthood v2.71 | TBC1D23 | Sarah Leigh commented on gene: TBC1D23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.71 | TBC1D23 | Sarah Leigh Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia type 11, 617695 to Pontocerebellar hypoplasia type 11 OMIM:617695; pontocerebellar hypoplasia, type 11 MONDO:0054669 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.70 | TBC1D23 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: TBC1D23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.70 | SLC9A1 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: SLC9A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.70 | SLC9A1 | Sarah Leigh commented on gene: SLC9A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.70 | SLC9A1 | Sarah Leigh Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr Syndrome to Lichtenstein-Knorr syndrome OMIM:616291; Lichtenstein-Knorr syndrome MONDO:0014572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.69 | SLC9A1 | Sarah Leigh Publications for gene: SLC9A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.68 | SCYL1 | Sarah Leigh Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 to Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.67 | SCYL1 | Sarah Leigh commented on gene: SCYL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.67 | SCYL1 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: SCYL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.67 | RORA | Sarah Leigh Publications for gene: RORA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.66 | RORA | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: RORA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.66 | RORA | Sarah Leigh commented on gene: RORA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.66 | RORA | Sarah Leigh Phenotypes for gene: RORA were changed from Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060; intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.65 | AP1S2 | Sarah Leigh Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome to Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.64 | PRICKLE1 | Sarah Leigh Phenotypes for gene: PRICKLE1 were changed from Progressive myoclonic epilepsy 1B, 612437; Progressive Myoclonus Epilepsy with Ataxia to Progressive myoclonic epilepsy 1B OMIM:612437; epilepsy, progressive myoclonic, 1B MONDO:0012904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.63 | PRICKLE1 | Sarah Leigh Publications for gene: PRICKLE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.62 | PRICKLE1 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: PRICKLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.62 | PRICKLE1 | Sarah Leigh commented on gene: PRICKLE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.62 | AP1S2 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: AP1S2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.62 | AMPD2 | Sarah Leigh Phenotypes for gene: AMPD2 were changed from Pontocerebellar hyoplasia 9, 615809 to Pontocerebellar hyoplasia 9 OMIM:615809; pontocerebellar hypoplasia type 9 MONDO:0014351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.61 | AMPD2 | Sarah Leigh Added comment: Comment on phenotypes: Spastic paraplegia 63 OMIM:615686 from homozygous frameshift reported in single family (Novarino et al, 2014). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.61 | AMPD2 | Sarah Leigh Phenotypes for gene: AMPD2 were changed from Pontocerebellar hyoplasia 9, 615809; Pontocerebellar hypoplasia 9 (#615809); Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014). to Pontocerebellar hyoplasia 9, 615809 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.60 | AMPD2 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: AMPD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.60 | AMPD2 | Sarah Leigh commented on gene: AMPD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.60 | ADGRG1 | Sarah Leigh Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752 to Polymicrogyria, Frontoparietal OMIM:606854; bilateral frontoparietal polymicrogyria MONDO:0011738; Polymicrogyria, perisylvian type OMIM:615752; polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0014333 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.59 | ADGRG1 | Sarah Leigh commented on gene: ADGRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.59 | ADGRG1 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: ADGRG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.59 | ABCB7 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: ABCB7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.59 | ABCB7 | Sarah Leigh commented on gene: ABCB7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.59 | ABCB7 | Sarah Leigh Phenotypes for gene: ABCB7 were changed from Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021 to Anemia, sideroblastic, with ataxia OMIM:301310; X-linked sideroblastic anemia with ataxia MONDO:0010524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.58 | ABCB7 | Sarah Leigh Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia; Anemia, sideroblast with ataxia, 300135; Sideroblastic Anemia and Ataxia to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.57 | EBF3 | Sarah Leigh Tag Q2_21_expert_review was removed from gene: EBF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.57 | EBF3 | Sarah Leigh changed review comment from: GMS review is requested in regard to Zornitza Stark's review; that the phenotype associated with EBF3 - Hypotonia, ataxia, and delayed development syndrome OMIM:617330 is not relevant to this panel as it is not an adult onset condtion.; to: The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset of ataxia in Hypotonia, ataxia, and delayed development syndrome OMIM:617330. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.57 | ERCC4 | Sarah Leigh Tag Q2_21_rating tag was added to gene: ERCC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.57 | ERCC4 | Sarah Leigh commented on gene: ERCC4: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least nine variants reported in at least seven cases of Xeroderma pigmentosum, group F OMIM:278760, where neurodegeneration and ataxia was present (PMID 29403087; 28431612; 29892709). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.57 | ERCC4 | Sarah Leigh Phenotypes for gene: ERCC4 were changed from Cerebellar ataxia; Xeroderma pigmentosum, group F OMIM:278760; xeroderma pigmentosum group F MONDO:0010215 to Xeroderma pigmentosum, group F OMIM:278760; xeroderma pigmentosum group F MONDO:0010215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.56 | ERCC4 | Sarah Leigh Classified gene: ERCC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.56 | ERCC4 | 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 with onset in adulthood v2.56 | ERCC4 | Sarah Leigh Gene: ercc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.55 | ERCC4 | Sarah Leigh Phenotypes for gene: ERCC4 were changed from Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM# 278760 to Cerebellar ataxia; Xeroderma pigmentosum, group F OMIM:278760; xeroderma pigmentosum group F MONDO:0010215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.54 | EBF3 |
Sarah Leigh Tag Q2_21_phenotype tag was added to gene: EBF3. Tag Q2_21_expert_review tag was added to gene: EBF3. |
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Hereditary ataxia with onset in adulthood v2.54 | EBF3 | Sarah Leigh reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.54 | EBF3 | Sarah Leigh Publications for gene: EBF3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.53 | TSEN54 | Arina Puzriakova Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 5, 610204; Pontocerebellar hypoplasia 4, 225753; Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470 to Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.52 | ATP8A2 |
Sarah Leigh Tag Q2_21_phenotype tag was added to gene: ATP8A2. Tag Q2_21_expert_review tag was added to gene: ATP8A2. |
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Hereditary ataxia with onset in adulthood v2.52 | ATP8A2 |
Sarah Leigh changed review comment from: Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. However, table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, where a few cases occur after adolescence. This provides justification for this gene being green on this adult onset panel.; to: Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. However, table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, where a few cases occur after adolescence. This provides some justification for this gene being green on this adult onset panel. |
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Hereditary ataxia with onset in adulthood v2.52 | ATP8A2 | Sarah Leigh reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.52 | AFG3L2 | Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28, 610246; Ataxia, spastic, 5, autosomal recessive; spastic ataxia 5, 614487; Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.51 | TSEN15 | Arina Puzriakova Publications for gene: TSEN15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.50 | TSEN15 | Arina Puzriakova Classified gene: TSEN15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.50 | TSEN15 | Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.50 | TSEN15 | Arina Puzriakova Gene: tsen15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.49 | TSEN15 | Arina Puzriakova reviewed gene: TSEN15: Rating: RED; Mode of pathogenicity: None; Publications: 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, OMIM:617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.49 | TSEN15 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: TSEN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.49 | TSEN15 | Arina Puzriakova Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia 2F, 617026 to Pontocerebellar hypoplasia, type 2F, OMIM:617026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.48 | PMPCB | Sarah Leigh Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.47 | GLRB | Sarah Leigh Publications for gene: GLRB were set to 23238346; 11929858; 21391991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.46 | GLRB | Sarah Leigh Phenotypes for gene: GLRB were changed from Hyperekplexia 2, 614619 to Hyperekplexia 2 OMIM:614619; hyperekplexia 2 MONDO:0013828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.45 | FXN | Sarah Leigh Phenotypes for gene: FXN were changed from Friedreichataxia, 229300; Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes,229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.44 | UCHL1 | Arina Puzriakova changed review comment from: Tagged for GMS expert review (Q2_21) to seek opinion on whether this gene rating needs to be changed. Ten individuals from four families have been reported with a childhood-onset neurodegenerative disorder and different biallelic variants in this gene. Age of onset ranges from 2 to 10 years, however visual loss appears to be one of the first presenting features in most cases and ataxia becomes apparent later in the clinical course (PMIDs: 23359680; 28007905; 29735986; 32656641); to: Tagged for GMS expert review (Q2_21) to seek opinion on whether this gene rating needs to be changed. Ten individuals from four families have been reported with a childhood-onset neurodegenerative disorder and different biallelic variants in this gene. Age of onset ranges from 2 to 10 years, however visual loss appears to be one of the first presenting features in most cases and ataxia becomes apparent later in the clinical course (PMIDs: 23359680; 28007905; 29735986; 32656641). Inclusion may be justified to ensure that edge cases may be identified. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.44 | UCHL1 | Arina Puzriakova Phenotypes for gene: UCHL1 were changed from Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491 to Spastic paraplegia 79, autosomal recessive, OMIM:615491 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.43 | UCHL1 | Arina Puzriakova Publications for gene: UCHL1 were set to 23359680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.42 | UCHL1 | Arina Puzriakova reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359680, 28007905, 29735986, 32656641; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM:615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.42 | UCHL1 | Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: UCHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.42 | ADPRHL2 |
Sarah Leigh changed review comment from: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of ADPRHL2 on the this - Hereditary ataxia - adult onset - panel, as variants in ADPRHL2 are usually associated with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 in infancy or in childhood. The green rating may be justifyied inorder to ensure that edge cases may be identified. GMS opinion is sort on this issue.; to: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of ADPRHL2 on the this - Hereditary ataxia - adult onset - panel, as variants in ADPRHL2 are usually associated with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 in infancy or in childhood. The green rating may be justified to ensure that edge cases may be identified. GMS opinion is sort on this issue. |
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Hereditary ataxia with onset in adulthood v2.42 | ADPRHL2 |
Sarah Leigh changed review comment from: The Q2_21_expert_review has been added to this gene as there is a conflict of opinion of the rating of this ADPRHL2 on the this - Hereditary ataxia - adult onset - panel, as variants in ADPRHL2 are usually associated with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 in infancy or in childhood. GMS opinion is sort on this issue.; to: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of ADPRHL2 on the this - Hereditary ataxia - adult onset - panel, as variants in ADPRHL2 are usually associated with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 in infancy or in childhood. The green rating may be justifyied inorder to ensure that edge cases may be identified. GMS opinion is sort on this issue. |
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Hereditary ataxia with onset in adulthood v2.42 | ADPRHL2 |
Sarah Leigh changed review comment from: The Q2_21_expert_review has been added to this gene as there is a conflict of opinion of the rating of this ADPRHL2 on the this - Hereditary ataxia - adult onset - panel.as variants in ADPRHL2 are usually associated with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 in infancy or in childhood. GMS opinion is sort on this issue.; to: The Q2_21_expert_review has been added to this gene as there is a conflict of opinion of the rating of this ADPRHL2 on the this - Hereditary ataxia - adult onset - panel, as variants in ADPRHL2 are usually associated with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 in infancy or in childhood. GMS opinion is sort on this issue. |
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Hereditary ataxia with onset in adulthood v2.42 | ADPRHL2 | Sarah Leigh reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.42 | ADPRHL2 | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.42 | EEF2 | Eleanor Williams Classified gene: EEF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.42 | 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 with onset in adulthood v2.42 | EEF2 | Eleanor Williams Gene: eef2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.41 | EEF2 |
Eleanor Williams gene: EEF2 was added gene: EEF2 was added to Hereditary ataxia - adult onset. 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 |
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Hereditary ataxia with onset in adulthood v2.40 | MSTO1 | Sarah Leigh Phenotypes for gene: MSTO1 were changed from Mitochondrial myopathy and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.39 | IRF2BPL | Sarah Leigh Publications for gene: IRF2BPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.38 | IRF2BPL | Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.37 | EBF3 | Sarah Leigh Phenotypes for gene: EBF3 were changed from Hypotonia, ataxia and delayed development syndrome, 617330 to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.36 | COA7 | Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia with axonal neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.35 | ATP8A2 | Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 29531481; 30012219; 31612321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.34 | ATP8A2 | Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 31612321; 30012219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.33 | ATP8A2 | Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 31612321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.32 | ATP8A2 | Sarah Leigh Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.31 | ATP8A2 | Sarah Leigh Publications for gene: ATP8A2 were set to 22892528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.30 | ATCAY | Sarah Leigh Publications for gene: ATCAY were set to 29449188; 14556008; 23226316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.29 | ATCAY | Sarah Leigh Phenotypes for gene: ATCAY were changed from Cerebellar Ataxia, Cayman type; Cayman Ataxia, 601238; Ataxia, cerebellar, Cayman type to Ataxia, cerebellar, Cayman type OMIM:601238; Cayman type cerebellar ataxia MONDO:0011025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.28 | ATCAY | Sarah Leigh Publications for gene: ATCAY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.27 | ADPRHL2 | Sarah Leigh Publications for gene: ADPRHL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.26 | ADPRHL2 | Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.25 | HTT_CAG | Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.25 | CHMP1A | Sarah Leigh Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia, type 8, 614961; Pontocerebellar hypoplasia type 8, 614961 to Pontocerebellar hypoplasia, type 8 OMIM:614961; pontocerebellar hypoplasia type 8 MONDO:0013990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.24 | CHMP1A | Sarah Leigh Publications for gene: CHMP1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.23 | CHMP1A | Sarah Leigh reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.23 | CHMP1A | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: CHMP1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.23 | CLP1 | Sarah Leigh changed review comment from: Zornitza Stark has reviewed this gene as red on this panel, as the phenotype associated with variants in CLP1 is evident in childhood. Furthermore, only a single Founder variant has been reported, in patients.; to: Zornitza Stark has reviewed this gene as red on this panel, as the phenotype associated with variants in CLP1 is evident in childhood. Furthermore, only a single (founder) variant has been reported, in patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.23 | CLP1 | Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803 to Pontocerebellar hypoplasia type 10 OMIM:615803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.22 | CLP1 | Sarah Leigh Publications for gene: CLP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CLP1 | Sarah Leigh Tag founder-effect tag was added to gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CLP1 | Sarah Leigh reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CLP1 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CLP1 | Zornitza Stark reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CHMP1A | Zornitza Stark reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | SYNE1 | Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8; Autosomal recessive spinocerebellar ataxia type 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.20 | TUBB2A | Arina Puzriakova Phenotypes for gene: TUBB2A were changed from Complex cortical dysplasia with other brain malformations 5, 615763 to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.19 | AARS | Arina Puzriakova Phenotypes for gene: AARS were changed from CMT 2N 613287; EIEE29, 616339 to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.18 | AAAS | Arina Puzriakova Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550; Triple A syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.17 | RFC1 | Zornitza Stark edited their review of gene: RFC1: Added comment: A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families reported in PMID 33103729. Both of these need to be added as STRs but I haven't quite figured out how to do it!; Changed publications: 30926972, 33103729 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.17 | TMEM106B | Arina Puzriakova Phenotypes for gene: TMEM106B were changed from Leukodystrophy, hypomyelinating, 16 OMIM:617964 to Leukodystrophy, hypomyelinating, 16, OMIM:617964; Leukodystrophy, hypomyelinating, 16, MONDO:0054791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.16 | TMEM106B | Arina Puzriakova Classified gene: TMEM106B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.16 | TMEM106B |
Arina Puzriakova Added comment: Comment on list classification: This gene has been flagged for review at the next GMS panel update (added 'for-review tag) as there is only enough evidence for TMEM106B to be rated AMBER on this panel. Only 2/6 cases present ataxia, which is mild in one individual. Cases are more likely to be recognised for the leukodystrophy feature of this disease presentation; however, this could be reviewed if evidence emerges of a more prominent ataxic phenotype. |
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Hereditary ataxia with onset in adulthood v2.16 | TMEM106B | Arina Puzriakova Gene: tmem106b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.15 | TMEM106B |
Arina Puzriakova Tag missense tag was added to gene: TMEM106B. Tag for-review tag was added to gene: TMEM106B. |
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Hereditary ataxia with onset in adulthood v2.15 | TMEM106B | Arina Puzriakova reviewed gene: TMEM106B: Rating: AMBER; 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: 29186371, 29444210, 30643851, 32595021; Phenotypes: Leukodystrophy, hypomyelinating, 16 OMIM:617964; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.15 | TMEM106B | Arina Puzriakova Phenotypes for gene: TMEM106B were changed from Hypomyelinating leukodystrophy 16, 617964 to Leukodystrophy, hypomyelinating, 16 OMIM:617964 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.14 | Arina Puzriakova Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.12 | HTT_CAG | Arina Puzriakova Classified STR: HTT_CAG as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.12 | HTT_CAG | Arina Puzriakova Added comment: Comment on list classification: This STR has been removed at the request of GHLs for the GMS Neurology Specialist Test Group as it is available as a core test for R68 Huntington Disease. Inclusion on panels for other neurological CIs raises concerns regarding counselling, and so it has been agreed that HTT_CAG will be excluded from this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.12 | HTT_CAG | Arina Puzriakova Str: htt_cag has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.11 | FMR1_CGG | Arina Puzriakova Classified STR: FMR1_CGG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.11 | FMR1_CGG | Arina Puzriakova Str: fmr1_cgg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.10 | FMR1_CGG |
Arina Puzriakova STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: FMR1_CGG. Mode of inheritance for STR: FMR1_CGG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, 300624 Review for STR: FMR1_CGG was set to GREEN Added comment: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel. Sources: Expert list |
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Hereditary ataxia with onset in adulthood v2.9 | ERCC4 |
Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to Hereditary ataxia - adult onset. Sources: Expert list Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 29403087; 28431612; 29892709 Phenotypes for gene: ERCC4 were set to Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM# 278760 Review for gene: ERCC4 was set to GREEN gene: ERCC4 was marked as current diagnostic Added comment: Bi-allelic variants in ERCC4 cause a range of phenotypes, including xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anaemia. Seven unrelated individuals reported with slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with onset in adolescence/adulthood. Brain MRIs demonstrated atrophy that included the cerebellum and brainstem. Of note, cutaneous symptoms were very mild in 5/7: there was normal to very mild pigmentation of exposed skin areas and/or an equivocal history of pathological sunburn. Sources: Expert list |
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Hereditary ataxia with onset in adulthood v2.9 | AP1S2 | Zornitza Stark reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | AMPD2 | Zornitza Stark reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hyoplasia 9, 615809; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | ADGRG1 | Zornitza Stark reviewed gene: ADGRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | ABCB7 | Zornitza Stark reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | UCHL1 | Zornitza Stark reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: 28007905, 23359680, 11555633; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | TBC1D23 | Zornitza Stark reviewed gene: TBC1D23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | SLC9A1 | Zornitza Stark reviewed gene: SLC9A1: Rating: RED; Mode of pathogenicity: None; Publications: 25205112, 30018422, 25760855; Phenotypes: Lichtenstein-Knorr syndrome, MIM# 616291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | SCYL1 | Zornitza Stark reviewed gene: SCYL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | RORA | Zornitza Stark reviewed gene: RORA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | PRICKLE1 | Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: 20301774; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | EBF3 | Zornitza Stark reviewed gene: EBF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | ATP8A2 | Zornitza Stark reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | ADPRHL2 | Zornitza Stark reviewed gene: ADPRHL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | DNMT1 | Eleanor Williams Publications for gene: DNMT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.8 | DNMT1 | Eleanor Williams reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.8 | ATXN8 | Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: ATXN8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.8 | ATXN8 | Eleanor Williams commented on gene: ATXN8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.8 | RFC1 |
Zornitza Stark gene: RFC1 was added gene: RFC1 was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC1 were set to 30926972 Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Mode of pathogenicity for gene: RFC1 was set to Other Review for gene: RFC1 was set to GREEN gene: RFC1 was marked as current diagnostic Added comment: 23 affected individuals from 11 families reported with biallelic AAGGG repeat expansion in intron 2. Expansion carrier frequency of 0.7% in Europeans. Sources: Expert Review |
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Hereditary ataxia with onset in adulthood v2.8 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.4 | Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.2 | Catherine Snow Panel types changed to GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.0 | ADPRHL2 | Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.0 | ADPRHL2 | Louise Daugherty commented on gene: ADPRHL2: Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.0 | Louise Daugherty promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.212 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.211 | Louise Daugherty List of related panels changed from Hereditary ataxia with onset in adulthood to Hereditary ataxia with onset in adulthood; R54 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.210 | HTT | Louise Daugherty Classified gene: HTT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.210 | HTT | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.210 | HTT | Louise Daugherty Gene: htt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.209 | DYNC1H1 | Louise Daugherty Classified gene: DYNC1H1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.209 | DYNC1H1 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.209 | DYNC1H1 | Louise Daugherty Gene: dync1h1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.208 | DYNC1H1 | Louise Daugherty Mode of pathogenicity for gene: DYNC1H1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.207 | DYNC1H1 | Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Autosomal dominant MR 13, 614563 most relevant; Charcot Marie Tooth, SMA, Intellectual disability to Autosomal dominant MR 13, 614563; Charcot Marie Tooth, SMA, Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.206 | COG5 | Louise Daugherty Classified gene: COG5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.206 | COG5 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.206 | COG5 | Louise Daugherty Gene: cog5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.205 | COG5 | Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external expert review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.205 | COG5 | Louise Daugherty Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.204 | CAPN1 | Louise Daugherty Classified gene: CAPN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.204 | CAPN1 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.204 | CAPN1 | Louise Daugherty Gene: capn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.203 | VRK1 | Louise Daugherty Classified gene: VRK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.203 | VRK1 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.203 | VRK1 | Louise Daugherty Gene: vrk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.202 | PNKD | Louise Daugherty Classified gene: PNKD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.202 | PNKD | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.202 | PNKD | Louise Daugherty Gene: pnkd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.201 | KCNQ3 | Louise Daugherty Classified gene: KCNQ3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.201 | KCNQ3 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.201 | KCNQ3 | Louise Daugherty Gene: kcnq3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.200 | KCNQ3 | Louise Daugherty Mode of pathogenicity for gene: KCNQ3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.199 | SLC6A5 | Louise Daugherty Classified gene: SLC6A5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.199 | SLC6A5 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.199 | SLC6A5 | Louise Daugherty Gene: slc6a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.198 | PAX6 | Louise Daugherty Classified gene: PAX6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.198 | PAX6 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.198 | PAX6 | Louise Daugherty Gene: pax6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.197 | ISCA-37468-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None. Source Wessex and West Midlands GLH was removed from Region: ISCA-37468-Loss. Source Brain channelopathy v1.46 was removed from Region: ISCA-37468-Loss. Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Hereditary ataxia with onset in adulthood v1.196 | AARS | Louise Daugherty Tag new-gene-name tag was added to gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.196 | AARS | Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.196 | POLG2 | Sarah Leigh Publications for gene: POLG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.195 | POLG2 | Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.195 | POLG2 | Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | TBP_CAG | Louise Daugherty commented on STR: TBP_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | PPP2R2B_CAG | Louise Daugherty commented on STR: PPP2R2B_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | NOP56_GGCCTG | Louise Daugherty commented on STR: NOP56_GGCCTG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | HTT_CAG | Louise Daugherty commented on STR: HTT_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | FXN_GAA | Louise Daugherty commented on STR: FXN_GAA: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ATXN7_CAG | Louise Daugherty commented on STR: ATXN7_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ATXN3_CAG | Louise Daugherty commented on STR: ATXN3_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ATXN2_CAG | Louise Daugherty commented on STR: ATXN2_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ATXN1_CAG | Louise Daugherty commented on STR: ATXN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ATXN10_ATTCT | Louise Daugherty commented on STR: ATXN10_ATTCT: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ATN1_CAG | Louise Daugherty commented on STR: ATN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ISCA-37478-Gain | Louise Daugherty commented on Region: ISCA-37478-Gain: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ISCA-37404-Loss | Louise Daugherty commented on Region: ISCA-37404-Loss: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.194 | ARMC9 | Louise Daugherty Publications for gene: ARMC9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.193 | ARMC9 | Louise Daugherty Mode of inheritance for gene: ARMC9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.192 | ARMC9 | Louise Daugherty Phenotypes for gene: ARMC9 were changed from to Joubert syndrome 30, 617622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.191 | MFN2 | Louise Daugherty Mode of inheritance for gene: MFN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.190 | ADGRG1 | Louise Daugherty Mode of inheritance for gene: ADGRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.189 | XRCC1 | Louise Daugherty Tag watchlist tag was added to gene: XRCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.189 | OPA3 | Louise Daugherty changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; to: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green. Confirmed MOI should be AR (Biallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | MVK | Louise Daugherty reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | SLC9A6 | Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | DAB1 | Louise Daugherty edited their review of gene: DAB1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | BEAN1 | Louise Daugherty commented on gene: BEAN1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | AARS | Louise Daugherty commented on gene: AARS: Upgraded rating from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | XRCC1 | Louise Daugherty commented on gene: XRCC1: Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | VAMP1 | Louise Daugherty commented on gene: VAMP1: Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | TGM6 | Louise Daugherty commented on gene: TGM6: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | SLC9A1 | Louise Daugherty commented on gene: SLC9A1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | POLG2 | Louise Daugherty commented on gene: POLG2: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | PDYN | Louise Daugherty commented on gene: PDYN: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | CACNB4 | Louise Daugherty commented on gene: CACNB4: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | ATXN8 | Louise Daugherty edited their review of gene: ATXN8: Added comment: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | RELN | Louise Daugherty commented on gene: RELN: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | ZFYVE26 | Louise Daugherty commented on gene: ZFYVE26: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | TPP1 | Louise Daugherty commented on gene: TPP1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | PRRT2 | Louise Daugherty commented on gene: PRRT2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | NHLRC1 | Louise Daugherty commented on gene: NHLRC1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | MRE11 | Louise Daugherty commented on gene: MRE11: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | MARS2 | Louise Daugherty commented on gene: MARS2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | FMR1 | Louise Daugherty commented on gene: FMR1: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | DNAJC5 | Louise Daugherty commented on gene: DNAJC5: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | ATP1A2 | Louise Daugherty commented on gene: ATP1A2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | TTC19 | Louise Daugherty commented on gene: TTC19: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | TINF2 | Louise Daugherty commented on gene: TINF2: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | SLC25A46 | Louise Daugherty commented on gene: SLC25A46: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | SAR1B | Louise Daugherty commented on gene: SAR1B: Downgraded Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | OPA3 | Louise Daugherty commented on gene: OPA3: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | MORC2 | Louise Daugherty commented on gene: MORC2: Downgraded rating from Green to Amber, Green gene for childhood onset. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | MFN2 | Louise Daugherty commented on gene: MFN2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | GDAP2 | Louise Daugherty commented on gene: GDAP2: Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | EPM2A | Louise Daugherty commented on gene: EPM2A: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | ELOVL5 | Louise Daugherty commented on gene: ELOVL5: Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.188 | ARSA | Louise Daugherty commented on gene: ARSA: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.187 | MVK |
Louise Daugherty Source Expert Review Red was added to MVK. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | AARS |
Louise Daugherty Source Expert Review Amber was added to AARS. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | TGM6 |
Louise Daugherty Source Expert Review Red was added to TGM6. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | SLC9A1 |
Louise Daugherty Source Expert Review Green was added to SLC9A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | POLG2 |
Louise Daugherty Source Expert Review Red was added to POLG2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | PDYN |
Louise Daugherty Source Expert Review Red was added to PDYN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | CACNB4 |
Louise Daugherty Source Expert Review Red was added to CACNB4. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | ATXN8 |
Louise Daugherty Source Expert Review Red was added to ATXN8. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | FMR1 |
Louise Daugherty Source Expert Review Red was added to FMR1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | TTC19 |
Louise Daugherty Source Expert Review Red was added to TTC19. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | TINF2 |
Louise Daugherty Source Expert Review Red was added to TINF2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | SAR1B |
Louise Daugherty Source Expert Review Amber was added to SAR1B. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | MORC2 |
Louise Daugherty Source Expert Review Amber was added to MORC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | GDAP2 |
Louise Daugherty Source Expert Review Amber was added to GDAP2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v1.187 | ELOVL5 |
Louise Daugherty Source Expert Review Amber was added to ELOVL5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v1.186 | CACNA1A_CAG | Louise Daugherty commented on STR: CACNA1A_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.186 | CSTB_CCCCGCCCCGCG | Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.186 | CSTB_CCCCGCCCCGCG | Louise Daugherty Added comment: Comment on list classification: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.186 | CSTB_CCCCGCCCCGCG | Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.185 | CSTB_CCCCGCCCCGCG | Louise Daugherty Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.184 | ISCA-37478-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37478-Loss was changed from to None. Source Hereditary ataxia v1.148 was removed from Region: ISCA-37478-Loss. Source NHS GMS was added to Region: ISCA-37478-Loss. |
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Hereditary ataxia with onset in adulthood v1.183 | ISCA-37478-Loss | Louise Daugherty commented on Region: ISCA-37478-Loss: CNV missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.183 | ISCA-37468-Loss | Louise Daugherty Classified Region: ISCA-37468-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.183 | ISCA-37468-Loss | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this CNV Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.183 | ISCA-37468-Loss | Louise Daugherty Region: isca-37468-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.182 | TUBB2A | Louise Daugherty commented on gene: TUBB2A: No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.182 | TUBB | Louise Daugherty commented on gene: TUBB: No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.182 | GALC | Louise Daugherty Phenotypes for gene: GALC were changed from KRABBE DISEASE, 245200 to Krabbe disease, 245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.181 | GALC | Louise Daugherty Classified gene: GALC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.181 | GALC | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.181 | GALC | Louise Daugherty Gene: galc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.180 | PEX2 | Louise Daugherty Phenotypes for gene: PEX2 were changed from PEROXISOME BIOGENESIS DISORDER 5B,614867 to Peroxisome biogenesis disorder 5B, 614867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.179 | PEX2 | Louise Daugherty Classified gene: PEX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.179 | PEX2 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.179 | PEX2 | Louise Daugherty Gene: pex2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | GALC |
Nick Beauchamp gene: GALC was added gene: GALC was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 26915362, 20886637 Phenotypes for gene: GALC were set to KRABBE DISEASE, 245200 Review for gene: GALC was set to GREEN gene: GALC was marked as current diagnostic Added comment: Unusual presentation but 5 member kindred presenting with predominant cerebellar ataxia (26915362) and two patients with spastic ataxia reported by Tappino et al 2010 (20886637). Further case report with patient developing progressive ataxia (doi: 10.5455/ijmsph.2014.150320141) Sources: Expert Review |
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Hereditary ataxia with onset in adulthood v1.178 | PEX2 |
Nick Beauchamp gene: PEX2 was added gene: PEX2 was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 23430938; 7931872; 21392394 Phenotypes for gene: PEX2 were set to PEROXISOME BIOGENESIS DISORDER 5B,614867 Review for gene: PEX2 was set to GREEN gene: PEX2 was marked as current diagnostic Added comment: Three patients with PEX2 mutations either compound het or homozygous. Mild symptoms that included no cognitive impairment but does show gait ataxia, dysarthria, dysmetria, areflexia, and bilateral pes cavus. Sources: Expert Review |
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Hereditary ataxia with onset in adulthood v1.178 | TBP_CAG | Louise Daugherty Source London North GLH was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | PPP2R2B_CAG | Louise Daugherty Source London North GLH was added to STR: PPP2R2B_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | NOP56_GGCCTG | Louise Daugherty Source London North GLH was added to STR: NOP56_GGCCTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | HTT_CAG | Louise Daugherty Source London North GLH was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | FXN_GAA | Louise Daugherty Source London North GLH was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | CACNA1A_CAG | Louise Daugherty Source London North GLH was added to STR: CACNA1A_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | ATXN7_CAG | Louise Daugherty Source London North GLH was added to STR: ATXN7_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | ATXN3_CAG | Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | ATXN2_CAG | Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | ATXN1_CAG | Louise Daugherty Source London North GLH was added to STR: ATXN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | ATXN10_ATTCT | Louise Daugherty Source London North GLH was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.178 | ATN1_CAG | Louise Daugherty Source London North GLH was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | ATXN7_CAG | Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group; to: Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | ATXN3_CAG | Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group; to: Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | HTT_CAG | Louise Daugherty Source NHS GMS was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | CACNA1A_CAG | Louise Daugherty Source NHS GMS was added to STR: CACNA1A_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | ATXN7_CAG | Louise Daugherty Source NHS GMS was added to STR: ATXN7_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | ATXN3_CAG | Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | ATXN2_CAG | Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | ATXN1_CAG | Louise Daugherty Source NHS GMS was added to STR: ATXN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | ATXN10_ATTCT | Louise Daugherty Source NHS GMS was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.177 | ATN1_CAG | Louise Daugherty Source NHS GMS was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.176 | HTT_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.176 | CACNA1A_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: CACNA1A_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.176 | ATXN7_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: ATXN7_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.176 | ATXN3_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: ATXN3_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.176 | ATXN2_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: ATXN2_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.176 | ATXN1_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: ATXN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.176 | ATXN10_ATTCT | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.176 | ATN1_CAG |
Louise Daugherty Source Wessex and West Midlands GLH was added to STR: ATN1_CAG. Publications for STR: ATN1_CAG were changed from 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 to 20301664; 8136826; 8136840; 7614090 |
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Hereditary ataxia with onset in adulthood v1.175 | NOP56 | Louise Daugherty Classified gene: NOP56 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.175 | NOP56 | Louise Daugherty Gene: nop56 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.174 | NOP56 | Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group; to: Review and rating submitted byJames Polke, on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.174 | NOP56 | Louise Daugherty edited their review of gene: NOP56: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from James Polke on behalf of London North GLH for GMS Neurology specialist test group relates to the STR and not the gene entity (and is indicated in his comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.174 | ATXN2_CAG | Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.; to: Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.174 | ATXN10_ATTCT | Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.; to: Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.174 | ATN1_CAG | Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment: DRPLA. Triplet repeat. Asked for by Prof Giunti sometimes with ataxia patients with signs of dementia etc.; to: Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group. Comment: DRPLA. Triplet repeat. Asked for by Prof Giunti sometimes with ataxia patients with signs of dementia etc. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.174 | VAMP1 |
Louise Daugherty changed review comment from: Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group ; to: Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group |
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Hereditary ataxia with onset in adulthood v1.174 | MAPK8IP3 | Eleanor Williams commented on gene: MAPK8IP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.174 | MAPK8IP3 | Eleanor Williams Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies to Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities, 618443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | MSTO1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | PIK3R5 | Louise Daugherty edited their review of gene: PIK3R5: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from London North GLH and Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | PI4KA | Louise Daugherty edited their review of gene: PI4KA: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | PCLO | Louise Daugherty edited their review of gene: PCLO: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | SMPD4 | Louise Daugherty edited their review of gene: SMPD4: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | MME | Louise Daugherty edited their review of gene: MME: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH and London North GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | KCNK18 | Louise Daugherty edited their review of gene: KCNK18: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH and London North GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | CDK5 | Louise Daugherty edited their review of gene: CDK5: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | DCC | Louise Daugherty edited their review of gene: DCC: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | DMXL2 | Louise Daugherty edited their review of gene: DMXL2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | FRMD4A | Louise Daugherty edited their review of gene: FRMD4A: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | GLI3 | Louise Daugherty edited their review of gene: GLI3: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | CCDC88C | Louise Daugherty edited their review of gene: CCDC88C: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from London North GLH and Wessex and West Midlands GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.171 | TUBB2A | Louise Daugherty Mode of inheritance for gene: TUBB2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.170 | TUBB | Louise Daugherty Mode of pathogenicity for gene: TUBB was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.169 | TUBB | Louise Daugherty Mode of inheritance for gene: TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.168 | TUBA8 | Louise Daugherty Mode of inheritance for gene: TUBA8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.167 | THG1L | Louise Daugherty Mode of inheritance for gene: THG1L was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.166 | TBP | Louise Daugherty reviewed gene: TBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.166 | SMPD4 | Louise Daugherty edited their review of gene: SMPD4: Added comment: To clarify, this gene was uploaded by the GLH from a gene list submitted for R54. The gene SMPD4 is rated Amber on the following Rare Disease 100K PanelApp panels : Cerebellar hypoplasia, Arthrogryposis, Intellectual disabilit, due to work presented at ESHG 2018 by Pamela Magini: three unrelated families with ID, cerebellar hypoplasia, arthrogryposis. Still unpublished.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.166 | SLC25A32 | Louise Daugherty Mode of inheritance for gene: SLC25A32 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.165 | PPP2R2B | Louise Daugherty reviewed gene: PPP2R2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.165 | PI4KA | Louise Daugherty Mode of inheritance for gene: PI4KA was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.164 | PAX2 | Louise Daugherty Phenotypes for gene: PAX2 were changed from Ataxia,spastic2,autosomalrecessive(2); Papillorenal syndrome, AR to Ataxia,spastic2,autosomal recessive; Papillorenal syndrome, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.163 | PAX2 | Louise Daugherty Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.162 | MME | Louise Daugherty Mode of inheritance for gene: MME was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.161 | GLI3 | Louise Daugherty Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.160 | FRMD4A | Louise Daugherty Mode of inheritance for gene: FRMD4A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.159 | DMXL2 | Louise Daugherty Mode of inheritance for gene: DMXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.158 | DCC | Louise Daugherty Mode of inheritance for gene: DCC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.157 | DAB1 | Louise Daugherty edited their review of gene: DAB1: Added comment: New gene added by Wessex and West Midlands GLH and London North GLH. Gene and Green rating to be discussed by the Neurology Test Group in July 2019 - since this relates to repeat STR entity and not a gene entity. DAB1 STR has not yet been validated by the pipeline.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.157 | BEAN1 | Louise Daugherty commented on gene: BEAN1: New gene added by Wessex and West Midlands GLH and London North GLH. Gene and Green rating to be discussed by the Neurology Test Group in July 2019 - since this relates to repeat STR entity and not a gene entity. BEAN1 STR has not yet been validated by the pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.157 | B3GALNT2 | Louise Daugherty Classified gene: B3GALNT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.157 | B3GALNT2 | Louise Daugherty Added comment: Comment on list classification: New gene added by Wessex and West Midlands GLH. Gene and Green rating to be discussed by the Neurology Test Group in July 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.157 | B3GALNT2 | Louise Daugherty Gene: b3galnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.156 | B3GALNT2 | Louise Daugherty Mode of inheritance for gene: B3GALNT2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ATXN7 |
Louise Daugherty edited their review of gene: ATXN7: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene entity (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED |
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Hereditary ataxia with onset in adulthood v1.155 | ATXN3 | Louise Daugherty edited their review of gene: ATXN3: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene entity (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ATXN2 | Louise Daugherty edited their review of gene: ATXN2: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ATXN10 | Louise Daugherty edited their review of gene: ATXN10: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ATXN1 | Louise Daugherty edited their review of gene: ATXN1: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The Green review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ATN1 | Louise Daugherty edited their review of gene: ATN1: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The Green review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ISCA-37478-Loss | Louise Daugherty commented on Region: ISCA-37478-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ISCA-37478-Gain |
Louise Daugherty commented on Region: ISCA-37478-Gain: This panel was initially created as a merge of genomic entities form the following Rare Disease 100K two panels : Hereditary ataxia v1.148 and Brain channelopathy v1.46. This region (rated Green) comes from the Hereditary ataxia v1.148 panel and will need to discussed by the Neurology Test Group in July 2019. |
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Hereditary ataxia with onset in adulthood v1.155 | ISCA-37404-Loss |
Louise Daugherty commented on Region: ISCA-37404-Loss: This panel was initially created as a merge of genomic entities form the following Rare Disease 100K two panels : Hereditary ataxia v1.148 and Brain channelopathy v1.46. This region (rated Green) comes from the Hereditary ataxia v1.148 panel and will need to discussed by the Neurology Test Group in July 2019. |
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Hereditary ataxia with onset in adulthood v1.155 | ISCA-37468-Loss | Louise Daugherty commented on Region: ISCA-37468-Loss: This panel was initially created as a merge of genomic entities form the following Rare Disease 100K two panels: Hereditary ataxia v1.148 and Brain channelopathy v1.46. This region (rated Green) comes from the Brain channelopathy v1.46 panel, and will need to discussed for inclusion on this panel by the Neurology Test Group in July 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ATXN8 | Louise Daugherty edited their review of gene: ATXN8: Added comment: added tags nucleotide-repeat-expansion and currently-ngs-unreportable; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ATXN8 | Louise Daugherty Classified gene: ATXN8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.155 | ATXN8 |
Louise Daugherty Added comment: Comment on list classification: The gene was added via completed template from expert review for Neurology Test Group but due to the review comments Downgraded to Amber from expert review Green. This potentially is a new STR and if so, needs added as a STR entity, not Gene entity. Note there is no ENSG ID for this gene for either GRCh38 or GRCh37 so we need to make sure Cellbase has updates |
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Hereditary ataxia with onset in adulthood v1.155 | ATXN8 | Louise Daugherty Gene: atxn8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.154 | CSTB | Louise Daugherty Classified gene: CSTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.154 | CSTB | Louise Daugherty Gene: cstb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.153 | DYNC1H1 | Louise Daugherty Classified gene: DYNC1H1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.153 | DYNC1H1 | Louise Daugherty Gene: dync1h1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.153 | DYNC1H1 | Louise Daugherty Classified gene: DYNC1H1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.153 | DYNC1H1 | Louise Daugherty Gene: dync1h1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.152 | EBF3 | Louise Daugherty Mode of inheritance for gene: EBF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.151 | EBF3 | Louise Daugherty Classified gene: EBF3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.151 | EBF3 | Louise Daugherty Gene: ebf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.150 | EXOSC8 | Louise Daugherty Mode of inheritance for gene: EXOSC8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.149 | EXOSC8 | Louise Daugherty Classified gene: EXOSC8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.149 | EXOSC8 | Louise Daugherty Gene: exosc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.148 | EXOSC9 | Louise Daugherty Mode of inheritance for gene: EXOSC9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.147 | EXOSC9 | Louise Daugherty Classified gene: EXOSC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.147 | EXOSC9 | Louise Daugherty Gene: exosc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.146 | HTT | Louise Daugherty Phenotypes for gene: HTT were changed from Huntington disease 143100; Huntington disease, 143100, 617432 to Huntington disease 143100; Lopes-Maciel-Rodan syndrome, 617432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.146 | HTT | Louise Daugherty Phenotypes for gene: HTT were changed from Huntington disease 143100; Huntington disease, 143100, 617432 to Huntington disease 143100; Lopes-Maciel-Rodan syndrome, 617432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.145 | HTT | Louise Daugherty Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.144 | HTT | Louise Daugherty Classified gene: HTT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.144 | HTT | Louise Daugherty Gene: htt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.143 | IRF2BPL | Louise Daugherty Mode of inheritance for gene: IRF2BPL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.142 | IRF2BPL | Louise Daugherty Classified gene: IRF2BPL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.142 | IRF2BPL | Louise Daugherty Gene: irf2bpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.141 | KCNA2 | Louise Daugherty Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.140 | KCNA2 | Louise Daugherty Classified gene: KCNA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.140 | KCNA2 | Louise Daugherty Gene: kcna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.139 | KCNA2 | Louise Daugherty Mode of pathogenicity for gene: KCNA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.138 | MAPK8IP3 | Louise Daugherty Phenotypes for gene: MAPK8IP3 were changed from ID with variable brain anomalies to Intellectual Disability with variable brain anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.137 | MAPK8IP3 | Louise Daugherty Phenotypes for gene: MAPK8IP3 were changed from ID with variable brain anomalies, not included in to ID with variable brain anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.136 | MAPK8IP3 | Louise Daugherty Mode of inheritance for gene: MAPK8IP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.135 | MAPK8IP3 | Louise Daugherty Classified gene: MAPK8IP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.135 | MAPK8IP3 | Louise Daugherty Gene: mapk8ip3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.134 | MSTO1 | Louise Daugherty Phenotypes for gene: MSTO1 were changed from Mitochondrial myopathy and ataxia to Mitochondrial myopathy and ataxia, 617675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.133 | MSTO1 | Louise Daugherty Mode of inheritance for gene: MSTO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.132 | MSTO1 | Louise Daugherty Classified gene: MSTO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.132 | MSTO1 | Louise Daugherty Gene: msto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.131 | NKX2-1 | Louise Daugherty Mode of inheritance for gene: NKX2-1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.130 | NKX2-1 | Louise Daugherty Classified gene: NKX2-1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.130 | NKX2-1 | Louise Daugherty Gene: nkx2-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.129 | OPA1 | Louise Daugherty Mode of pathogenicity for gene: OPA1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.128 | OPA1 | Louise Daugherty Mode of inheritance for gene: OPA1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.127 | OPA1 | Louise Daugherty Classified gene: OPA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.127 | OPA1 | Louise Daugherty Gene: opa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.126 | PACS2 | Louise Daugherty Mode of inheritance for gene: PACS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.125 | PACS2 | Louise Daugherty Mode of inheritance for gene: PACS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.124 | PACS2 | Louise Daugherty Mode of pathogenicity for gene: PACS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.123 | PACS2 | Louise Daugherty Classified gene: PACS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.123 | PACS2 | Louise Daugherty Gene: pacs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.122 | PEX6 | Louise Daugherty Mode of inheritance for gene: PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.121 | PEX6 | Louise Daugherty Classified gene: PEX6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.121 | PEX6 | Louise Daugherty Gene: pex6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.120 | PMPCB | Louise Daugherty Mode of inheritance for gene: PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.119 | PMPCB | Louise Daugherty Classified gene: PMPCB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.119 | PMPCB | Louise Daugherty Gene: pmpcb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.118 | PRICKLE1 | Louise Daugherty Classified gene: PRICKLE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.118 | PRICKLE1 | Louise Daugherty Gene: prickle1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.117 | PTRH2 | Louise Daugherty Classified gene: PTRH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.117 | PTRH2 | Louise Daugherty Gene: ptrh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.116 | PTRH2 | Louise Daugherty Mode of inheritance for gene: PTRH2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.115 | PUM1 | Louise Daugherty Mode of inheritance for gene: PUM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.114 | PUM1 | Louise Daugherty Classified gene: PUM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.114 | PUM1 | Louise Daugherty Gene: pum1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.113 | ROBO3 | Louise Daugherty Mode of inheritance for gene: ROBO3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.112 | ROBO3 | Louise Daugherty Classified gene: ROBO3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.112 | ROBO3 | Louise Daugherty Gene: robo3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.111 | RORA | Louise Daugherty Mode of inheritance for gene: RORA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.110 | RORA | Louise Daugherty Mode of pathogenicity for gene: RORA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.109 | RORA | Louise Daugherty Classified gene: RORA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.109 | RORA | Louise Daugherty Gene: rora has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.108 | SAMD9L | Louise Daugherty Mode of inheritance for gene: SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.107 | SAMD9L | Louise Daugherty Mode of pathogenicity for gene: SAMD9L was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.106 | SAMD9L | Louise Daugherty Classified gene: SAMD9L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.106 | SAMD9L | Louise Daugherty Gene: samd9l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.105 | SCYL1 | Louise Daugherty Phenotypes for gene: SCYL1 were changed from Autosomal recessive to Spinocerebellar ataxia, autosomal recessive 21, 616719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.104 | SCYL1 | Louise Daugherty Mode of inheritance for gene: SCYL1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.103 | SCYL1 | Louise Daugherty Classified gene: SCYL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.103 | SCYL1 | Louise Daugherty Gene: scyl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.102 | SLC39A8 | Louise Daugherty Mode of inheritance for gene: SLC39A8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.101 | SLC39A8 | Louise Daugherty Classified gene: SLC39A8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.101 | SLC39A8 | Louise Daugherty Gene: slc39a8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.100 | SLC52A2 | Louise Daugherty Phenotypes for gene: SLC52A2 were changed from Bwon-Vialetto-Van Laere syndrome 2 to Bwon-Vialetto-Van Laere syndrome 2, 614707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.99 | SLC52A2 | Louise Daugherty Mode of inheritance for gene: SLC52A2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.98 | SLC52A2 | Louise Daugherty Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.98 | SLC52A2 | Louise Daugherty Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.98 | SLC52A2 | Louise Daugherty Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.98 | SLC52A2 | Louise Daugherty Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.97 | SQSTM1 | Louise Daugherty Classified gene: SQSTM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.97 | SQSTM1 | Louise Daugherty Gene: sqstm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.96 | SQSTM1 | Louise Daugherty Mode of inheritance for gene: SQSTM1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.95 | SYNGAP1 | Louise Daugherty Mode of inheritance for gene: SYNGAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.94 | SYNGAP1 | Louise Daugherty Classified gene: SYNGAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.94 | SYNGAP1 | Louise Daugherty Gene: syngap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.93 | TBC1D23 | Louise Daugherty Classified gene: TBC1D23 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.93 | TBC1D23 | Louise Daugherty Gene: tbc1d23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.92 | TBC1D23 | Louise Daugherty Mode of inheritance for gene: TBC1D23 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.91 | TERT | Louise Daugherty Classified gene: TERT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.91 | TERT | Louise Daugherty Gene: tert has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.90 | TERT | Louise Daugherty Mode of inheritance for gene: TERT was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.89 | TMEM106B | Louise Daugherty Mode of inheritance for gene: TMEM106B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.88 | TMEM106B | Louise Daugherty Mode of pathogenicity for gene: TMEM106B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.87 | TMEM106B | Louise Daugherty Classified gene: TMEM106B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.87 | TMEM106B | Louise Daugherty Gene: tmem106b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.86 | TOE1 | Louise Daugherty Mode of inheritance for gene: TOE1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.85 | TOE1 | Louise Daugherty Classified gene: TOE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.85 | TOE1 | Louise Daugherty Gene: toe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.84 | TSEN15 | Louise Daugherty Mode of inheritance for gene: TSEN15 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.83 | TSEN15 | Louise Daugherty Classified gene: TSEN15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.83 | TSEN15 | Louise Daugherty Gene: tsen15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.82 | TUBA1A | Louise Daugherty Mode of inheritance for gene: TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.81 | TUBA1A | Louise Daugherty Mode of pathogenicity for gene: TUBA1A was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.80 | TUBA1A | Louise Daugherty Classified gene: TUBA1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.80 | TUBA1A | Louise Daugherty Gene: tuba1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.79 | TUBB2B | Louise Daugherty Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.78 | TUBB2B | Louise Daugherty Mode of pathogenicity for gene: TUBB2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.77 | TUBB2B | Louise Daugherty Classified gene: TUBB2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.77 | TUBB2B | Louise Daugherty Gene: tubb2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.76 | TUBB3 | Louise Daugherty Mode of pathogenicity for gene: TUBB3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.75 | TUBB3 | Louise Daugherty Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.74 | TUBB3 | Louise Daugherty Classified gene: TUBB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.74 | TUBB3 | Louise Daugherty Gene: tubb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.73 | UBA5 | Louise Daugherty Classified gene: UBA5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.73 | UBA5 | Louise Daugherty Gene: uba5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.72 | UBA5 | Louise Daugherty Mode of inheritance for gene: UBA5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.71 | UCHL1 | Louise Daugherty Classified gene: UCHL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.71 | UCHL1 | Louise Daugherty Gene: uchl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.70 | VPS53 | Louise Daugherty Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia 2E (#615851); Pontocerebellar hypoplasia 2E, 615851 to Pontocerebellar hypoplasia 2E, 615851 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.69 | VPS53 | Louise Daugherty Classified gene: VPS53 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.69 | VPS53 | Louise Daugherty Gene: vps53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.68 | MTPAP | Louise Daugherty Mode of pathogenicity for gene: MTPAP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.67 | MTPAP | Louise Daugherty Classified gene: MTPAP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.67 | MTPAP | Louise Daugherty Gene: mtpap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.66 | LNPK | Louise Daugherty Mode of inheritance for gene: LNPK was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.65 | LNPK | Louise Daugherty Classified gene: LNPK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.65 | LNPK | Louise Daugherty Gene: lnpk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.64 | COASY | Louise Daugherty Mode of inheritance for gene: COASY was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.63 | COASY | Louise Daugherty Classified gene: COASY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.63 | COASY | Louise Daugherty Gene: coasy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.62 | COA7 | Louise Daugherty Mode of inheritance for gene: COA7 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.61 | COA7 | Louise Daugherty Classified gene: COA7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.61 | COA7 | Louise Daugherty Gene: coa7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.60 | CLP1 | Louise Daugherty Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803; Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia type 10, 615803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.59 | CLP1 | Louise Daugherty Classified gene: CLP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.59 | CLP1 | Louise Daugherty Gene: clp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.58 | CAPN1 | Louise Daugherty Mode of inheritance for gene: CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.57 | CAPN1 | Louise Daugherty Classified gene: CAPN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.57 | CAPN1 | Louise Daugherty Gene: capn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.56 | BRF1 | Louise Daugherty Mode of inheritance for gene: BRF1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.55 | BRF1 | Louise Daugherty Classified gene: BRF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.55 | BRF1 | Louise Daugherty Gene: brf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.54 | B4GAT1 | Louise Daugherty Mode of inheritance for gene: B4GAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.53 | B4GAT1 | Louise Daugherty Classified gene: B4GAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.53 | B4GAT1 | Louise Daugherty Gene: b4gat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.53 | B4GAT1 | Louise Daugherty Classified gene: B4GAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.53 | B4GAT1 | Louise Daugherty Gene: b4gat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.52 | ATN1 | Louise Daugherty Classified gene: ATN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.52 | ATN1 | Louise Daugherty Gene: atn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.51 | ATP8A2 | Louise Daugherty Classified gene: ATP8A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.51 | ATP8A2 | Louise Daugherty Gene: atp8a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.50 | ATN1 | Louise Daugherty Mode of pathogenicity for gene: ATN1 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.49 | ATN1 | Louise Daugherty Classified gene: ATN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.49 | ATN1 | Louise Daugherty Gene: atn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.48 | ADGRG1 | Louise Daugherty Classified gene: ADGRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.48 | ADGRG1 | Louise Daugherty Gene: adgrg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.47 | ADPRHL2 | Louise Daugherty Classified gene: ADPRHL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.47 | ADPRHL2 | Louise Daugherty Gene: adprhl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.46 | ADPRHL2 | Louise Daugherty Mode of inheritance for gene: ADPRHL2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.45 | KCNK18 | Louise Daugherty Mode of inheritance for gene: KCNK18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.44 | KCNK18 | Louise Daugherty Classified gene: KCNK18 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.44 | KCNK18 | Louise Daugherty Gene: kcnk18 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.43 | DMXL2 | Louise Daugherty Classified gene: DMXL2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.43 | DMXL2 | Louise Daugherty Gene: dmxl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.42 | ATP2B3 | Louise Daugherty Classified gene: ATP2B3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.42 | ATP2B3 | Louise Daugherty Gene: atp2b3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.41 | ATP2B3 | Louise Daugherty Classified gene: ATP2B3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.41 | ATP2B3 | Louise Daugherty Gene: atp2b3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.40 | ZFYVE26 | Louise Daugherty Mode of pathogenicity for gene: ZFYVE26 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.39 | ZFYVE26 | Louise Daugherty Phenotypes for gene: ZFYVE26 were changed from Autosomal recessive spastic paraplegia 15, 270700; Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. to Autosomal recessive spastic paraplegia 15, 270700; Autosomal recessive spastic paraplegia 15, 270700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.38 | ZFYVE26 | Louise Daugherty Classified gene: ZFYVE26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.38 | ZFYVE26 | Louise Daugherty Gene: zfyve26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.37 | XRCC1 | Louise Daugherty Classified gene: XRCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.37 | XRCC1 | Louise Daugherty Gene: xrcc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.36 | TINF2 | Louise Daugherty Mode of inheritance for gene: TINF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.35 | TINF2 | Louise Daugherty Classified gene: TINF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.35 | TINF2 | Louise Daugherty Gene: tinf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.34 | TGM6 | Louise Daugherty Classified gene: TGM6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.34 | TGM6 | Louise Daugherty Gene: tgm6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.33 | SLC9A1 | Louise Daugherty Mode of inheritance for gene: SLC9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.33 | SLC9A1 | Louise Daugherty Mode of inheritance for gene: SLC9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.32 | SLC9A1 | Louise Daugherty Classified gene: SLC9A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.32 | SLC9A1 | Louise Daugherty Gene: slc9a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.31 | SLC25A46 | Louise Daugherty Classified gene: SLC25A46 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.31 | SLC25A46 | Louise Daugherty Gene: slc25a46 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.30 | SLC25A46 | Louise Daugherty Mode of inheritance for gene: SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.29 | POLG2 | Louise Daugherty Mode of inheritance for gene: POLG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.28 | POLG2 | Louise Daugherty Classified gene: POLG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.28 | POLG2 | Louise Daugherty Gene: polg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.27 | PDYN | Louise Daugherty Classified gene: PDYN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.27 | PDYN | Louise Daugherty Gene: pdyn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.26 | MORC2 | Louise Daugherty Mode of pathogenicity for gene: MORC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.25 | MORC2 | Louise Daugherty Mode of inheritance for gene: MORC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.24 | MORC2 | Louise Daugherty Classified gene: MORC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.24 | MORC2 | Louise Daugherty Gene: morc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.23 | MFN2 | Louise Daugherty Phenotypes for gene: MFN2 were changed from Dominant optic atrophy plus, not listed in to Dominant optic atrophy plus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.22 | MFN2 | Louise Daugherty Mode of pathogenicity for gene: MFN2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.21 | MFN2 | Louise Daugherty Classified gene: MFN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.21 | MFN2 | Louise Daugherty Gene: mfn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.20 | GDAP2 | Louise Daugherty Phenotypes for gene: GDAP2 were changed from Autosomal recessive spinocerebellar ataxia, not listed in to Autosomal recessive spinocerebellar ataxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.19 | GDAP2 | Louise Daugherty Mode of inheritance for gene: GDAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.18 | GDAP2 | Louise Daugherty Classified gene: GDAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.18 | GDAP2 | Louise Daugherty Gene: gdap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.17 | GDAP2 | Louise Daugherty Classified gene: GDAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.17 | GDAP2 | Louise Daugherty Gene: gdap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.16 | ELOVL5 | Louise Daugherty Classified gene: ELOVL5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.16 | ELOVL5 | Louise Daugherty Gene: elovl5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.15 | CACNB4 | Louise Daugherty Classified gene: CACNB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.15 | CACNB4 | Louise Daugherty Gene: cacnb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TBP_CAG | Louise Daugherty commented on STR: TBP_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment: SCa17 expansion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PPP2R2B_CAG | Louise Daugherty commented on STR: PPP2R2B_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment : SCA 12 expansion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | NOP56_GGCCTG | Louise Daugherty commented on STR: NOP56_GGCCTG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATXN7_CAG | Louise Daugherty commented on STR: ATXN7_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATXN3_CAG | Louise Daugherty commented on STR: ATXN3_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATXN2_CAG | Louise Daugherty commented on STR: ATXN2_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATXN10_ATTCT | Louise Daugherty commented on STR: ATXN10_ATTCT: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATXN1_CAG | Louise Daugherty commented on STR: ATXN1_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATN1_CAG | Louise Daugherty commented on STR: ATN1_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment: DRPLA. Triplet repeat. Asked for by Prof Giunti sometimes with ataxia patients with signs of dementia etc. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ZFYVE26 | Louise Daugherty commented on gene: ZFYVE26: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | XRCC1 | Louise Daugherty commented on gene: XRCC1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | VPS13D | Louise Daugherty commented on gene: VPS13D: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | VAMP1 | Louise Daugherty commented on gene: VAMP1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TWNK | Louise Daugherty commented on gene: TWNK: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TUBB4A | Louise Daugherty commented on gene: TUBB4A: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TTPA | Louise Daugherty commented on gene: TTPA: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TTC19 | Louise Daugherty commented on gene: TTC19: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TTBK2 | Louise Daugherty commented on gene: TTBK2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TPP1 | Louise Daugherty commented on gene: TPP1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TMEM240 | Louise Daugherty commented on gene: TMEM240: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TINF2 | Louise Daugherty commented on gene: TINF2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | TGM6 | Louise Daugherty commented on gene: TGM6: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SYNE1 | Louise Daugherty commented on gene: SYNE1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | STUB1 | Louise Daugherty commented on gene: STUB1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SPTBN2 | Louise Daugherty commented on gene: SPTBN2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SPG7 | Louise Daugherty commented on gene: SPG7: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SNX14 | Louise Daugherty commented on gene: SNX14: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SMPD4 | Louise Daugherty commented on gene: SMPD4: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SLC9A1 | Louise Daugherty commented on gene: SLC9A1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SLC25A46 | Louise Daugherty commented on gene: SLC25A46: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SETX | Louise Daugherty commented on gene: SETX: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SAR1B | Louise Daugherty commented on gene: SAR1B: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SAMD9L | Louise Daugherty commented on gene: SAMD9L: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | SACS | Louise Daugherty commented on gene: SACS: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | RORA | Louise Daugherty commented on gene: RORA: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | RNF216 | Louise Daugherty commented on gene: RNF216: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | RNF170 | Louise Daugherty commented on gene: RNF170: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PUM1 | Louise Daugherty commented on gene: PUM1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PRRT2 | Louise Daugherty commented on gene: PRRT2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PRNP | Louise Daugherty commented on gene: PRNP: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PRKCG | Louise Daugherty commented on gene: PRKCG: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | POLG2 | Louise Daugherty commented on gene: POLG2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | POLG | Louise Daugherty commented on gene: POLG: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PNPLA6 | Louise Daugherty commented on gene: PNPLA6: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PLA2G6 | Louise Daugherty commented on gene: PLA2G6: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PIK3R5 | Louise Daugherty commented on gene: PIK3R5: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PDYN | Louise Daugherty commented on gene: PDYN: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | PAX2 | Louise Daugherty commented on gene: PAX2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | OPA3 | Louise Daugherty commented on gene: OPA3: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | NPC2 | Louise Daugherty commented on gene: NPC2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | NPC1 | Louise Daugherty commented on gene: NPC1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | NOP56 | Louise Daugherty reviewed gene: NOP56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | NHLRC1 | Louise Daugherty commented on gene: NHLRC1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | NAGLU | Louise Daugherty commented on gene: NAGLU: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | MSTO1 | Louise Daugherty commented on gene: MSTO1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | MRE11 | Louise Daugherty commented on gene: MRE11: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | MORC2 | Louise Daugherty commented on gene: MORC2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | MME | Louise Daugherty commented on gene: MME: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | MFN2 | Louise Daugherty commented on gene: MFN2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | MARS2 | Louise Daugherty commented on gene: MARS2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | KCNK18 | Louise Daugherty commented on gene: KCNK18: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | KCND3 | Louise Daugherty commented on gene: KCND3: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | KCNC3 | Louise Daugherty commented on gene: KCNC3: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ITPR1 | Louise Daugherty commented on gene: ITPR1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | IRF2BPL | Louise Daugherty commented on gene: IRF2BPL: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | HTT | Louise Daugherty commented on gene: HTT: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | HEXB | Louise Daugherty commented on gene: HEXB: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | HEXA | Louise Daugherty commented on gene: HEXA: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | GRM1 | Louise Daugherty commented on gene: GRM1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | GJC2 | Louise Daugherty commented on gene: GJC2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | GFAP | Louise Daugherty commented on gene: GFAP: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | GDAP2 | Louise Daugherty commented on gene: GDAP2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | GBA2 | Louise Daugherty commented on gene: GBA2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | FXN | Louise Daugherty commented on gene: FXN: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | FMR1 | Louise Daugherty commented on gene: FMR1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | FGF14 | Louise Daugherty commented on gene: FGF14: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | EPM2A | Louise Daugherty commented on gene: EPM2A: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ELOVL5 | Louise Daugherty commented on gene: ELOVL5: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ELOVL4 | Louise Daugherty commented on gene: ELOVL4: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | EIF2B5 | Louise Daugherty commented on gene: EIF2B5: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | EIF2B4 | Louise Daugherty commented on gene: EIF2B4: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | EIF2B3 | Louise Daugherty commented on gene: EIF2B3: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | EIF2B2 | Louise Daugherty commented on gene: EIF2B2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | EIF2B1 | Louise Daugherty commented on gene: EIF2B1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | DNMT1 | Louise Daugherty commented on gene: DNMT1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | DNAJC5 | Louise Daugherty commented on gene: DNAJC5: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | DARS2 | Louise Daugherty commented on gene: DARS2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | DAB1 | Louise Daugherty commented on gene: DAB1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CYP27A1 | Louise Daugherty commented on gene: CYP27A1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CSTB | Louise Daugherty commented on gene: CSTB: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CP | Louise Daugherty commented on gene: CP: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | COA7 | Louise Daugherty commented on gene: COA7: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CLN6 | Louise Daugherty commented on gene: CLN6: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CLCN2 | Louise Daugherty commented on gene: CLCN2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CCDC88C | Louise Daugherty commented on gene: CCDC88C: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CAPN1 | Louise Daugherty commented on gene: CAPN1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CACNB4 | Louise Daugherty commented on gene: CACNB4: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CACNA1G | Louise Daugherty commented on gene: CACNA1G: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | CACNA1A | Louise Daugherty commented on gene: CACNA1A: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | BEAN1 | Louise Daugherty commented on gene: BEAN1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATXN8 | Louise Daugherty reviewed gene: ATXN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATP7B | Louise Daugherty commented on gene: ATP7B: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATP2B3 | Louise Daugherty commented on gene: ATP2B3: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATP1A3 | Louise Daugherty commented on gene: ATP1A3: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATP1A2 | Louise Daugherty commented on gene: ATP1A2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ATCAY | Louise Daugherty commented on gene: ATCAY: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ARSA | Louise Daugherty commented on gene: ARSA: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ARMC9 | Louise Daugherty reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ANO10 | Louise Daugherty commented on gene: ANO10: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | AFG3L2 | Louise Daugherty commented on gene: AFG3L2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ADPRHL2 | Louise Daugherty commented on gene: ADPRHL2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ADCY5 | Louise Daugherty commented on gene: ADCY5: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | ABHD12 | Louise Daugherty commented on gene: ABHD12: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | AARS | Louise Daugherty commented on gene: AARS: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ZFYVE26 | Louise Daugherty Source London North GMS was added to ZFYVE26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | XRCC1 | Louise Daugherty Source London North GMS was added to XRCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | VPS13D | Louise Daugherty Source London North GMS was added to VPS13D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | VAMP1 | Louise Daugherty Source London North GMS was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TWNK | Louise Daugherty Source London North GMS was added to TWNK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TUBB4A | Louise Daugherty Source London North GMS was added to TUBB4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TTPA | Louise Daugherty Source London North GMS was added to TTPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TTC19 | Louise Daugherty Source London North GMS was added to TTC19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TTBK2 | Louise Daugherty Source London North GMS was added to TTBK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TPP1 | Louise Daugherty Source London North GMS was added to TPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TMEM240 | Louise Daugherty Source London North GMS was added to TMEM240. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TINF2 | Louise Daugherty Source London North GMS was added to TINF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TGM6 | Louise Daugherty Source London North GMS was added to TGM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SYNE1 | Louise Daugherty Source London North GMS was added to SYNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | STUB1 | Louise Daugherty Source London North GMS was added to STUB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SPTBN2 | Louise Daugherty Source London North GMS was added to SPTBN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SPG7 | Louise Daugherty Source London North GMS was added to SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SNX14 | Louise Daugherty Source London North GMS was added to SNX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SMPD4 | Louise Daugherty Source London North GMS was added to SMPD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SLC9A1 | Louise Daugherty Source London North GMS was added to SLC9A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SLC25A46 | Louise Daugherty Source London North GMS was added to SLC25A46. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SETX | Louise Daugherty Source London North GMS was added to SETX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SAR1B | Louise Daugherty Source London North GMS was added to SAR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SAMD9L | Louise Daugherty Source London North GMS was added to SAMD9L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | SACS | Louise Daugherty Source London North GMS was added to SACS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | RORA | Louise Daugherty Source London North GMS was added to RORA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | RNF216 | Louise Daugherty Source London North GMS was added to RNF216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | RNF170 | Louise Daugherty Source London North GMS was added to RNF170. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PUM1 | Louise Daugherty Source London North GMS was added to PUM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PRRT2 | Louise Daugherty Source London North GMS was added to PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PRNP | Louise Daugherty Source London North GMS was added to PRNP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PRKCG | Louise Daugherty Source London North GMS was added to PRKCG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | POLG2 | Louise Daugherty Source London North GMS was added to POLG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | POLG | Louise Daugherty Source London North GMS was added to POLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PNPLA6 | Louise Daugherty Source London North GMS was added to PNPLA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PLA2G6 | Louise Daugherty Source London North GMS was added to PLA2G6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PIK3R5 | Louise Daugherty Source London North GMS was added to PIK3R5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PDYN | Louise Daugherty Source London North GMS was added to PDYN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | PAX2 | Louise Daugherty Source London North GMS was added to PAX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | OPA3 | Louise Daugherty Source London North GMS was added to OPA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | NPC2 | Louise Daugherty Source London North GMS was added to NPC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | NPC1 | Louise Daugherty Source London North GMS was added to NPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | NOP56 | Louise Daugherty Source London North GMS was added to NOP56. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | NHLRC1 | Louise Daugherty Source London North GMS was added to NHLRC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | NAGLU | Louise Daugherty Source London North GMS was added to NAGLU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | MSTO1 | Louise Daugherty Source London North GMS was added to MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | MRE11 | Louise Daugherty Source London North GMS was added to MRE11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | MORC2 | Louise Daugherty Source London North GMS was added to MORC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | MME | Louise Daugherty Source London North GMS was added to MME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | MFN2 | Louise Daugherty Source London North GMS was added to MFN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | MARS2 | Louise Daugherty Source London North GMS was added to MARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | KCNK18 | Louise Daugherty Source London North GMS was added to KCNK18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | KCND3 | Louise Daugherty Source London North GMS was added to KCND3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | KCNC3 | Louise Daugherty Source London North GMS was added to KCNC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ITPR1 | Louise Daugherty Source London North GMS was added to ITPR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | IRF2BPL | Louise Daugherty Source London North GMS was added to IRF2BPL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | HTT | Louise Daugherty Source London North GMS was added to HTT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | HEXB | Louise Daugherty Source London North GMS was added to HEXB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | HEXA | Louise Daugherty Source London North GMS was added to HEXA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | GRM1 | Louise Daugherty Source London North GMS was added to GRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | GJC2 | Louise Daugherty Source London North GMS was added to GJC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | GFAP | Louise Daugherty Source London North GMS was added to GFAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | GDAP2 | Louise Daugherty Source London North GMS was added to GDAP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | GBA2 | Louise Daugherty Source London North GMS was added to GBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | FXN | Louise Daugherty Source London North GMS was added to FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | FMR1 | Louise Daugherty Source London North GMS was added to FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | FGF14 | Louise Daugherty Source London North GMS was added to FGF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | EPM2A | Louise Daugherty Source London North GMS was added to EPM2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ELOVL5 | Louise Daugherty Source London North GMS was added to ELOVL5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ELOVL4 | Louise Daugherty Source London North GMS was added to ELOVL4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | EIF2B5 | Louise Daugherty Source London North GMS was added to EIF2B5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | EIF2B4 | Louise Daugherty Source London North GMS was added to EIF2B4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | EIF2B3 | Louise Daugherty Source London North GMS was added to EIF2B3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | EIF2B2 | Louise Daugherty Source London North GMS was added to EIF2B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | EIF2B1 | Louise Daugherty Source London North GMS was added to EIF2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | DNMT1 | Louise Daugherty Source London North GMS was added to DNMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | DNAJC5 | Louise Daugherty Source London North GMS was added to DNAJC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | DARS2 | Louise Daugherty Source London North GMS was added to DARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | DAB1 | Louise Daugherty Source London North GMS was added to DAB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CYP27A1 | Louise Daugherty Source London North GMS was added to CYP27A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CSTB | Louise Daugherty Source London North GMS was added to CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CP | Louise Daugherty Source London North GMS was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | COA7 | Louise Daugherty Source London North GMS was added to COA7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CLN6 | Louise Daugherty Source London North GMS was added to CLN6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CLCN2 | Louise Daugherty Source London North GMS was added to CLCN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CCDC88C | Louise Daugherty Source London North GMS was added to CCDC88C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CAPN1 | Louise Daugherty Source London North GMS was added to CAPN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CACNB4 | Louise Daugherty Source London North GMS was added to CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CACNA1G | Louise Daugherty Source London North GMS was added to CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | CACNA1A | Louise Daugherty Source London North GMS was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | BEAN1 | Louise Daugherty Source London North GMS was added to BEAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ATXN8 | Louise Daugherty Source London North GMS was added to ATXN8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ATP7B | Louise Daugherty Source London North GMS was added to ATP7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ATP2B3 | Louise Daugherty Source London North GMS was added to ATP2B3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ATP1A3 | Louise Daugherty Source London North GMS was added to ATP1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ATP1A2 | Louise Daugherty Source London North GMS was added to ATP1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ATCAY | Louise Daugherty Source London North GMS was added to ATCAY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ARSA | Louise Daugherty Source London North GMS was added to ARSA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ARMC9 | Louise Daugherty Source London North GMS was added to ARMC9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ANO10 | Louise Daugherty Source London North GMS was added to ANO10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | AFG3L2 | Louise Daugherty Source London North GMS was added to AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ADPRHL2 | Louise Daugherty Source London North GMS was added to ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ADCY5 | Louise Daugherty Source London North GMS was added to ADCY5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | ABHD12 | Louise Daugherty Source London North GMS was added to ABHD12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | AARS | Louise Daugherty Source London North GMS was added to AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.12 | NOP56 | Louise Daugherty Source NHS GMS was added to NOP56. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.12 | ATXN8 | Louise Daugherty Source NHS GMS was added to ATXN8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.12 | ARMC9 | Louise Daugherty Source NHS GMS was added to ARMC9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ZFYVE26 | James Polke reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | XRCC1 | James Polke reviewed gene: XRCC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | VPS13D | James Polke reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | VAMP1 | James Polke reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TWNK | James Polke reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TUBB4A | James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TTPA | James Polke reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TTC19 | James Polke reviewed gene: TTC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TTBK2 | James Polke reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TPP1 | James Polke reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TMEM240 | James Polke reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TINF2 | James Polke reviewed gene: TINF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TGM6 | James Polke reviewed gene: TGM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SYNE1 | James Polke reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | STUB1 | James Polke reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SPTBN2 | James Polke reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SPG7 | James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SNX14 | James Polke reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SMPD4 | James Polke reviewed gene: SMPD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SLC9A1 | James Polke reviewed gene: SLC9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SLC25A46 | James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SETX | James Polke reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SAR1B | James Polke reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SAMD9L | James Polke reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | SACS | James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | RORA | James Polke reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | RNF216 | James Polke reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | RNF170 | James Polke reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PUM1 | James Polke reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PRRT2 | James Polke reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PRNP | James Polke reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PRKCG | James Polke reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | POLG2 | James Polke reviewed gene: POLG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | POLG | James Polke reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PNPLA6 | James Polke reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PLA2G6 | James Polke reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PIK3R5 | James Polke reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PDYN | James Polke reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | PAX2 | James Polke reviewed gene: PAX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | OPA3 | James Polke reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | NPC2 | James Polke reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | NPC1 | James Polke reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | NOP56 | James Polke reviewed gene: NOP56: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | NHLRC1 | James Polke reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | NAGLU | James Polke reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | MSTO1 | James Polke reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | MRE11 | James Polke reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | MORC2 | James Polke reviewed gene: MORC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | MME | James Polke reviewed gene: MME: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | MFN2 | James Polke reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | MARS2 | James Polke reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | KCNK18 | James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | KCND3 | James Polke reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | KCNC3 | James Polke reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ITPR1 | James Polke reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | IRF2BPL | James Polke reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | HTT | James Polke reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | HEXB | James Polke reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | HEXA | James Polke reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | GRM1 | James Polke reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | GJC2 | James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | GFAP | James Polke reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | GDAP2 | James Polke reviewed gene: GDAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | GBA2 | James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | FXN | James Polke reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | FMR1 | James Polke reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | FGF14 | James Polke reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | EPM2A | James Polke reviewed gene: EPM2A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ELOVL5 | James Polke reviewed gene: ELOVL5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ELOVL4 | James Polke reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | EIF2B5 | James Polke reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | EIF2B4 | James Polke reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | EIF2B3 | James Polke reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | EIF2B2 | James Polke reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | EIF2B1 | James Polke reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | DNMT1 | James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | DNAJC5 | James Polke reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | DARS2 | James Polke reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | DAB1 | James Polke reviewed gene: DAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CYP27A1 | James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CSTB | James Polke reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CP | James Polke reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | COA7 | James Polke reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CLN6 | James Polke reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CLCN2 | James Polke reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CCDC88C | James Polke reviewed gene: CCDC88C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CAPN1 | James Polke reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CACNB4 | James Polke reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CACNA1G | James Polke reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | CACNA1A | James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | BEAN1 | James Polke reviewed gene: BEAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ATXN8 | James Polke reviewed gene: ATXN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ATP7B | James Polke reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ATP2B3 | James Polke reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ATP1A3 | James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ATP1A2 | James Polke reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ATCAY | James Polke reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ARSA | James Polke reviewed gene: ARSA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ARMC9 | James Polke reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ANO10 | James Polke reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | AFG3L2 | James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ADPRHL2 | James Polke reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ADCY5 | James Polke reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | ABHD12 | James Polke reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | AARS | James Polke reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.10 | NOP56 |
Louise Daugherty Source Expert Review Green was added to NOP56. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v1.10 | ATXN8 |
Louise Daugherty Source Expert Review Green was added to ATXN8. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v1.10 | ARMC9 |
Louise Daugherty gene: ARMC9 was added gene: ARMC9 was added to Hereditary ataxia - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ARMC9 was set to |
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Hereditary ataxia with onset in adulthood v1.9 | ZNF592 | Louise Daugherty Added phenotypes Galloway-Mowat Syndrome 1, 251300 for gene: ZNF592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ZFYVE26 | Louise Daugherty Added phenotypes Autosomal recessive spastic paraplegia 15, 270700 for gene: ZFYVE26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | XRCC1 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 26, 617633 for gene: XRCC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | WWOX | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232; Early infantile epileptic encephalopathy 28, 616211 for gene: WWOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | WFS1 | Louise Daugherty Added phenotypes Wolfram syndrome 1, 222300 for gene: WFS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | WDR81 | Louise Daugherty Added phenotypes Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185; Congenital hydrocephalus 3 with brain anomalies, 617967 for gene: WDR81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | WDR73 | Louise Daugherty Added phenotypes Galloway-Mowat Syndrome 1, 251300 for gene: WDR73 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | VRK1 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 1A, 607596 for gene: VRK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | VPS53 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2E, 615851 for gene: VPS53 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | VPS13D | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 4, 608877 for gene: VPS13D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | VLDLR | Louise Daugherty Added phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 for gene: VLDLR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | VAMP1 | Louise Daugherty Added phenotypes Autosomal dominant spastic ataxia 1, 108600 for gene: VAMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | UCHL1 | Louise Daugherty Added phenotypes Autosomal recessive spastic paraplegia 79, 615491 for gene: UCHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | UBR4 | Louise Daugherty Added phenotypes Episodic ataxia type 8, 616055 for gene: UBR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | UBA5 | Louise Daugherty Added phenotypes Early infantile epileptic encephalopathy 44, 617132; Autosomal recessive spinocerebellar ataxia 24, 617133 for gene: UBA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TWNK | Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 7, 271245; Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 for gene: TWNK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TUBB4A | Louise Daugherty Added phenotypes Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 for gene: TUBB4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TUBB3 | Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain abnormalities 1, 614039 for gene: TUBB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TUBB2B | Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain abnormalities 7, 610031 for gene: TUBB2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TUBB2A | Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain malformations 5, 615763 for gene: TUBB2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TUBB | Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain malformations 6, 615771 for gene: TUBB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TUBA8 | Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain malformations 8, 613180 for gene: TUBA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TUBA1A | Louise Daugherty Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TTPA | Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TTC19 | Louise Daugherty Added phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 for gene: TTC19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TTBK2 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 11, 604432 for gene: TTBK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TSEN54 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 5, 610204; Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia 4, 225753 for gene: TSEN54 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TSEN34 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2C, 612390 for gene: TSEN34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TSEN2 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2B, 612389 for gene: TSEN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TSEN15 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2F, 617026 for gene: TSEN15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TPP1 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500 for gene: TPP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TOE1 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 7, 614969 for gene: TOE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TMEM240 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 21, 607454 for gene: TMEM240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TMEM106B | Louise Daugherty Added phenotypes Hypomyelinating leukodystrophy 16, 617964 for gene: TMEM106B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TINF2 | Louise Daugherty Added phenotypes Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130 for gene: TINF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | THG1L | Louise Daugherty Added phenotypes Cerebellar ataxia with developmental delay for gene: THG1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TGM6 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 35 for gene: TGM6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TERT | Louise Daugherty Added phenotypes Dyskeratosis congenita, 613989 for gene: TERT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TDP1 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250 for gene: TDP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TBC1D23 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 11, 617695 for gene: TBC1D23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SYT14 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 11, 614229 for gene: SYT14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SYNGAP1 | Louise Daugherty Added phenotypes Autosomal dominant mental retardation 5, 612621 for gene: SYNGAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SYNE1 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia type 8 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | STUB1 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia type 16, 615768 for gene: STUB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SRD5A3 | Louise Daugherty Added phenotypes Congenital disorder of glycosylation type Iq, 612379 for gene: SRD5A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SQSTM1 | Louise Daugherty Added phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 for gene: SQSTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SPTBN2 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 14, 615386; Spinocerebellar ataxia 5, 600224 for gene: SPTBN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SPR | Louise Daugherty Added phenotypes Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716 for gene: SPR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SPG7 | Louise Daugherty Added phenotypes Autosomal recessive spastic paraplegia 7, 607259 for gene: SPG7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SNX14 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 20, 616354 for gene: SNX14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SLC9A1 | Louise Daugherty Added phenotypes Lichtenstein-Knorr Syndrome for gene: SLC9A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SLC6A5 | Louise Daugherty Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SLC52A2 | Louise Daugherty Added phenotypes Bwon-Vialetto-Van Laere syndrome 2 for gene: SLC52A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SLC39A8 | Louise Daugherty Added phenotypes Congenital disorder of glycosylation type IIN, 616721 for gene: SLC39A8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SLC2A1 | Louise Daugherty Added phenotypes Dystonia 9, 601042; GLUT1 deficiency syndrome 2, 612126; GLUT1 deficiency syndrome 1, 606777 for gene: SLC2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SLC25A46 | Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy type VIB, 616505 for gene: SLC25A46 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SLC25A32 | Louise Daugherty Added phenotypes Riboflavin-responsive exericise intolerance, 616839 for gene: SLC25A32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SLC1A3 | Louise Daugherty Added phenotypes Episodic ataxia type 6, 612656 for gene: SLC1A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SIL1 | Louise Daugherty Added phenotypes Marinesco-Sjogren syndrome, 248800 for gene: SIL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SETX | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia type 1, 606002 for gene: SETX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SEPSECS | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 for gene: SEPSECS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SCYL1 | Louise Daugherty Added phenotypes Autosomal recessive for gene: SCYL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SCN8A | Louise Daugherty Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080 for gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SCN1A | Louise Daugherty Added phenotypes Generalised epilepsy with febrile seizures type 2, 604403; Familial hemiplegic migraine 3, 609634; Familial febrile seziures 3A, 604403; Epileptic encephalopathy 6, 607208 for gene: SCN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SAR1B | Louise Daugherty Added phenotypes Chylomicron retention disease, 246700 for gene: SAR1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SAMD9L | Louise Daugherty Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | SACS | Louise Daugherty Added phenotypes Charlevoix-Saguenay spastic ataxia, 270550 for gene: SACS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | RUBCN | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 15, 615705 for gene: RUBCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | RORA | Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ROBO3 | Louise Daugherty Added phenotypes Familial horizontal gaze palsy with progressive scoliosis, 607313 for gene: ROBO3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | RNF216 | Louise Daugherty Added phenotypes Cerebellar ataxia and hypogonadotrophic hypogonadism for gene: RNF216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | RNF170 | Louise Daugherty Added phenotypes Autosomal dominant sensory ataxia 1, 608984 for gene: RNF170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | RELN | Louise Daugherty Added phenotypes Lissencephaly 2, 257320 for gene: RELN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | RARS2 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 6, 611523 for gene: RARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PUM1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 47, 617931 for gene: PUM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PTRH2 | Louise Daugherty Added phenotypes Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 for gene: PTRH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PRRT2 | Louise Daugherty Added phenotypes Familial infantile convulsions with paroxysmal dyskinesia 1, 602066; episodic kinesigenic dyskinesia, 128200 for gene: PRRT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PRNP | Louise Daugherty Added phenotypes Multiple allelic disorders reported for gene: PRNP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PRKCG | Louise Daugherty Added phenotypes Spincocerebellar ataxia 14, 605361 for gene: PRKCG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PRICKLE1 | Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 1B, 612437 for gene: PRICKLE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | POLR3A | Louise Daugherty Added phenotypes Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 for gene: POLR3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | POLG2 | Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131 for gene: POLG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | POLG | Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome, 607459; autosomal recessive progressive external opthalmoplegia, 258450; autosomal dominant progressive external ophthalmoplegia, 157640; Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 for gene: POLG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PNPLA6 | Louise Daugherty Added phenotypes Boucher-Neuhauser syndrome, 215470; Sapstic paraplegia 39, 612020; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PNKP | Louise Daugherty Added phenotypes Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures and developmental delay, 613402 for gene: PNKP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PNKD | Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PMPCB | Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PMPCA | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 2, 213200 for gene: PMPCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PLA2G6 | Louise Daugherty Added phenotypes Autosomal recessive Parkinson disease 14, 612953; Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PIK3R5 | Louise Daugherty Added phenotypes Ataxia-oculomotor apraxia 3, 615217 for gene: PIK3R5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PI4KA | Louise Daugherty Added phenotypes Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531 for gene: PI4KA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PEX6 | Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 4A, 614862; Peroxisome biogenesis disorder 4B, 614863 for gene: PEX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PEX16 | Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A, 614876 for gene: PEX16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PDYN | Louise Daugherty Added phenotypes Spinocerebellar ataxia 23, 610245 for gene: PDYN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PCLO | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 3, 608027 for gene: PCLO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PAX6 | Louise Daugherty Added phenotypes Aniridia, 106210 for gene: PAX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PAX2 | Louise Daugherty Added phenotypes Papillorenal syndrome, AR for gene: PAX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PACS2 | Louise Daugherty Added phenotypes Early infantile epileptic encephalopathy 66, 618067 for gene: PACS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | OPHN1 | Louise Daugherty Added phenotypes X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | OPA3 | Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria type III, 258501 for gene: OPA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | OPA1 | Louise Daugherty Added phenotypes Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | NPC2 | Louise Daugherty Added phenotypes Niemann-Pick disease type C2, 607625 for gene: NPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | NPC1 | Louise Daugherty Added phenotypes Niemann-Pick disease type C1, 257220 for gene: NPC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | NKX6-2 | Louise Daugherty Added phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | NKX2-1 | Louise Daugherty Added phenotypes Hereditary bening chorea, 118700; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 for gene: NKX2-1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | NHLRC1 | Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780 for gene: NHLRC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | NAGLU | Louise Daugherty Added phenotypes CMT axon type 2V, 616491 for gene: NAGLU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MTTP | Louise Daugherty Added phenotypes Abetalipoproteinemia for gene: MTTP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MTPAP | Louise Daugherty Added phenotypes Autosomal recessive spastic ataxia 4, 613672 for gene: MTPAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MT-ATP6 | Louise Daugherty Added phenotypes Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500 for gene: MT-ATP6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MSTO1 | Louise Daugherty Added phenotypes Mitochondrial myopathy and ataxia for gene: MSTO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MRE11 | Louise Daugherty Added phenotypes Ataxia-telangiectasia-like disorder 1, 604391 for gene: MRE11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MORC2 | Louise Daugherty Added phenotypes Axonal type CMT disease type 2Z, 616688 for gene: MORC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MME | Louise Daugherty Added phenotypes Spinocerebellar ataxia type 43, 617018 for gene: MME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MMACHC | Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria cblC type, 277400 for gene: MMACHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MFN2 | Louise Daugherty Added phenotypes Dominant optic atrophy plus, not listed in for gene: MFN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MARS2 | Louise Daugherty Added phenotypes Autosomal recessive spastic ataxia 3, 611390 for gene: MARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | MAPK8IP3 | Louise Daugherty Added phenotypes ID with variable brain anomalies, not included in for gene: MAPK8IP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | LNPK | Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum for gene: LNPK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KIF1C | Louise Daugherty Added phenotypes Autosomal recessive spastic ataxia 2, 611302 for gene: KIF1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KCNQ3 | Louise Daugherty Added phenotypes Benign neonatal seizures 2, 121201 for gene: KCNQ3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KCNQ2 | Louise Daugherty Added phenotypes Early infantile encephalopathy 7, 613720 for gene: KCNQ2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KCNK18 | Louise Daugherty Added phenotypes Susceptibility to migraine with/without arua 13, 613656 for gene: KCNK18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KCNJ10 | Louise Daugherty Added phenotypes SESAME syndrome, 612780 for gene: KCNJ10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KCND3 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 19, 607346 for gene: KCND3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KCNC3 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 13, 605259 for gene: KCNC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KCNA2 | Louise Daugherty Added phenotypes Early infantile encephalopathy 32, 616366 for gene: KCNA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | KCNA1 | Louise Daugherty Added phenotypes Episodic ataxia/myokymia syndrome, 160120 for gene: KCNA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ITPR1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 29, 117360; Gillespie syndrome, 206700; Spinocerebellar ataxia 15, 606658 for gene: ITPR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | IRF2BPL | Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 for gene: IRF2BPL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | HTT | Louise Daugherty Added phenotypes Huntington disease, 143100, 617432 for gene: HTT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | HEXB | Louise Daugherty Added phenotypes Sandhoff disease, 268800 for gene: HEXB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | HEXA | Louise Daugherty Added phenotypes Tay-Sachs disease, 272800 for gene: HEXA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GRM1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 for gene: GRM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GRID2 | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 for gene: GRID2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GPAA1 | Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GOSR2 | Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 6, 614018 for gene: GOSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GLRB | Louise Daugherty Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GLRA1 | Louise Daugherty Added phenotypes Hyperekplexia 1, 149400 for gene: GLRA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GLI3 | Louise Daugherty Added phenotypes Greig syndrome, 175700; Pallister-Hall syndrome, 146510; Polydactyly type IV, 174700; Polydactyly types A1/B, 174200 for gene: GLI3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GJC2 | Louise Daugherty Added phenotypes Spastic paraplegia 44, 613206; Hypomyelinating leukodystrophy 2, 608804 for gene: GJC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GFAP | Louise Daugherty Added phenotypes Alexander disease, 203450 for gene: GFAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GDAP2 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia, not listed in for gene: GDAP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | GBA2 | Louise Daugherty Added phenotypes Spastic paraplegia 46, 614409 for gene: GBA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | FXN | Louise Daugherty Added phenotypes Friedreich ataxia, 229300 for gene: FXN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | FRMD4A | Louise Daugherty Added phenotypes Agenesis of corpus callosum with facial anomalies and cerebellar ataxia for gene: FRMD4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | FOLR1 | Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency for gene: FOLR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | FMR1 | Louise Daugherty Added phenotypes Fragile X tremor/ataxia syndrome for gene: FMR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | FLVCR1 | Louise Daugherty Added phenotypes Posterior column ataxia with retinitis pigmentosa, 609033 for gene: FLVCR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | FGF14 | Louise Daugherty Added phenotypes Spinocerebellar ataxia type 27, 609307 for gene: FGF14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EXOSC9 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1D, 618065 for gene: EXOSC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EXOSC8 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1C for gene: EXOSC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EXOSC3 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1B, 614678 for gene: EXOSC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EPM2A | Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 for gene: EPM2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ELOVL5 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 38, 615957 for gene: ELOVL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ELOVL4 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 34, 133190 for gene: ELOVL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EIF2B5 | Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EIF2B4 | Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EIF2B3 | Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EIF2B2 | Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EIF2B1 | Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | EBF3 | Louise Daugherty Added phenotypes Hypotonia, ataxia and delayed development syndrome, 617330 for gene: EBF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DYNC1H1 | Louise Daugherty Added phenotypes Autosomal dominant MR 13, 614563 most relevant for gene: DYNC1H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DNMT1 | Louise Daugherty Added phenotypes Cerebellar ataxia, deafness and narcolepsy, 604121; Hereditary sensory neuropathy type IE, 614116 for gene: DNMT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DNAJC5 | Louise Daugherty Added phenotypes Ceroid neuronal lipofuscinosis 4, Parry type, 162350 for gene: DNAJC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DNAJC19 | Louise Daugherty Added phenotypes 3-methylglutaconic aciduria type V, 610198 for gene: DNAJC19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DMXL2 | Louise Daugherty Added phenotypes Polyendocrine-polyneuropathy syndrome, 616113 for gene: DMXL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DDHD2 | Louise Daugherty Added phenotypes Spastic paraplegia 54 for gene: DDHD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DCC | Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum for gene: DCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DARS2 | Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation for gene: DARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | DAB1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 37, 615945 for gene: DAB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CYP2U1 | Louise Daugherty Added phenotypes Spastic paraplegia type 56, 615030 for gene: CYP2U1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CYP27A1 | Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CWF19L1 | Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia type 17, 616127 for gene: CWF19L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CSTB | Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 1A, 254800 for gene: CSTB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CP | Louise Daugherty Added phenotypes Aceruloplasminemia, 604290 for gene: CP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | COX20 | Louise Daugherty Added phenotypes Mitochondrial complex IV deficiency for gene: COX20 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | COQ8A | Louise Daugherty Added phenotypes Primary coenzyme Q10 deficiency 4, 612016 for gene: COQ8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | COG5 | Louise Daugherty Added phenotypes Congenital disorder of glycosylation type 2i, 613612 for gene: COG5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | COASY | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 12, 618266; Neurodegeneration with brain iron accumulation 6, 615643 for gene: COASY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | COA7 | Louise Daugherty Added phenotypes Spinocerebellar ataxia with axonal neuropathy for gene: COA7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CLP1 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 10, 615803 for gene: CLP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CLN6 | Louise Daugherty Added phenotypes Ceroid neuronal lipofuscinosis 6, 601780; Ceroid neuronal lipofuscinosis kufs type, 204300 for gene: CLN6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CLCN2 | Louise Daugherty Added phenotypes Leukoencephalopathy with ataxia, 615651 for gene: CLCN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CHMP1A | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 8, 614961 for gene: CHMP1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CDK5 | Louise Daugherty Added phenotypes Lissencephaly 7 with cerebellar hypoplasia, 616342 for gene: CDK5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CCDC88C | Louise Daugherty Added phenotypes Spinocerebellar ataxia 40, 616053 for gene: CCDC88C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CASK | Louise Daugherty Added phenotypes FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CAPN1 | Louise Daugherty Added phenotypes Spastic paraplegia type 76, 616907 for gene: CAPN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CAMTA1 | Louise Daugherty Added phenotypes Cerebellar ataxia with mental retardation, 614756 for gene: CAMTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CACNB4 | Louise Daugherty Added phenotypes Episodic ataxia type 5, 613855 for gene: CACNB4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CACNA1G | Louise Daugherty Added phenotypes Spinocerebellar ataxia 42, 616795; early-onset SCA42 with neurodevelopmental deficits, 618087 for gene: CACNA1G | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CACNA1A | Louise Daugherty Added phenotypes Episodic ataxia type 2, 108500; SCA6, 183086; Familial hemiplegic migraine 1, 141500 for gene: CACNA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CA8 | Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | BRF1 | Louise Daugherty Added phenotypes Cerebrofaciodental syndrome for gene: BRF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | BEAN1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 31, 117210 for gene: BEAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | B4GAT1 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy type A13, 615287 for gene: B4GAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | B3GALNT2 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy type A11, 615181 for gene: B3GALNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATXN7 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 7, 164500 for gene: ATXN7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATXN3 | Louise Daugherty Added phenotypes Machado-Joseph disease, 109150 for gene: ATXN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATXN2 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 2, 183090 for gene: ATXN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATXN10 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 10, 603516 for gene: ATXN10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATXN1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 1, 164400 for gene: ATXN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATP8A2 | Louise Daugherty Added phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 for gene: ATP8A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATP7B | Louise Daugherty Added phenotypes Wilson disease, 277900 for gene: ATP7B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATP2B3 | Louise Daugherty Added phenotypes X-linked spinocerebellar ataxia, 302500 for gene: ATP2B3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATP1A3 | Louise Daugherty Added phenotypes Alternating hemiplegia of childhood 2, 614820; CAPOS syndrome, 601338; Dystonia-12, 128235 for gene: ATP1A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATP1A2 | Louise Daugherty Added phenotypes Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481 for gene: ATP1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATN1 | Louise Daugherty Added phenotypes Dentato-pallidoluysian atrophy for gene: ATN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATM | Louise Daugherty Added phenotypes Ataxia-telangiectasia, 607585 for gene: ATM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ATCAY | Louise Daugherty Added phenotypes Cayman Ataxia, 601238 for gene: ATCAY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ARSA | Louise Daugherty Added phenotypes Metachromatic Leukodystrophy, 250100 for gene: ARSA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | APTX | Louise Daugherty Added phenotypes Early onset ataxia with oculomotor apraxia and hypoalbuminemia for gene: APTX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | AP1S2 | Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome for gene: AP1S2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ANO10 | Louise Daugherty Added phenotypes Spinocerebellar ataxia autosomal recessive type 10, 613728 for gene: ANO10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | AMPD2 | Louise Daugherty Added phenotypes Pontocerebellar hyoplasia 9, 615809 for gene: AMPD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | AFG3L2 | Louise Daugherty Added phenotypes spastic ataxia 5, 614487; Spinocerebellar ataxia 28, 610246 for gene: AFG3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ADPRHL2 | Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 for gene: ADPRHL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ADGRG1 | Louise Daugherty Added phenotypes Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752 for gene: ADGRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ADCY5 | Louise Daugherty Added phenotypes Dyskinesia with facial myokymia for gene: ADCY5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ABHD12 | Louise Daugherty Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 for gene: ABHD12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | ABCB7 | Louise Daugherty Added phenotypes Anemia, sideroblast with ataxia, 300135 for gene: ABCB7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | AARS | Louise Daugherty Added phenotypes CMT 2N 613287; EIEE29, 616339 for gene: AARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | AAAS | Louise Daugherty Added phenotypes Triple A syndrome, 231550 for gene: AAAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ZNF592 | Louise Daugherty reviewed gene: ZNF592: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ZFYVE26 | Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | XRCC1 | Louise Daugherty reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | WWOX | Louise Daugherty reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | WFS1 | Louise Daugherty reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | WDR81 | Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | WDR73 | Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | VRK1 | Louise Daugherty reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | VPS53 | Louise Daugherty reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | VPS13D | Louise Daugherty reviewed gene: VPS13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | VLDLR | Louise Daugherty reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | VAMP1 | Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | UCHL1 | Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | UBR4 | Louise Daugherty reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | UBA5 | Louise Daugherty reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TWNK | Louise Daugherty reviewed gene: TWNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TUBB4A | Louise Daugherty edited their review of gene: TUBB4A: Added comment: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. ; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TUBB3 | Louise Daugherty reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TUBB2B | Louise Daugherty reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TUBB2A | Louise Daugherty reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TUBB | Louise Daugherty reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TUBA8 | Louise Daugherty reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TUBA1A | Louise Daugherty reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TTPA | Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TTC19 | Louise Daugherty reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TTBK2 | Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TSEN54 | Louise Daugherty reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TSEN34 | Louise Daugherty reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TSEN2 | Louise Daugherty reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TSEN15 | Louise Daugherty reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TPP1 | Louise Daugherty reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TOE1 | Louise Daugherty reviewed gene: TOE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TMEM240 | Louise Daugherty reviewed gene: TMEM240: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TMEM106B | Louise Daugherty reviewed gene: TMEM106B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TINF2 | Louise Daugherty reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | THG1L | Louise Daugherty reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TGM6 | Louise Daugherty reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TERT | Louise Daugherty reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TDP1 | Louise Daugherty reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TBC1D23 | Louise Daugherty reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SYT14 | Louise Daugherty reviewed gene: SYT14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SYNGAP1 | Louise Daugherty reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SYNE1 | Louise Daugherty reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | STUB1 | Louise Daugherty reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SRD5A3 | Louise Daugherty reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SQSTM1 | Louise Daugherty reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SPTBN2 | Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SPR | Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SPG7 | Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SNX14 | Louise Daugherty reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SMPD4 | Louise Daugherty reviewed gene: SMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SLC9A1 | Louise Daugherty reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SLC6A5 | Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SLC52A2 | Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SLC39A8 | Louise Daugherty reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SLC2A1 | Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SLC25A46 | Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SLC25A32 | Louise Daugherty reviewed gene: SLC25A32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SLC1A3 | Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SIL1 | Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SETX | Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SEPSECS | Louise Daugherty reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SCYL1 | Louise Daugherty reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SCN9A | Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SCN8A | Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SCN1A | Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SAR1B | Louise Daugherty reviewed gene: SAR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SAMD9L | Louise Daugherty reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | SACS | Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | RUBCN | Louise Daugherty reviewed gene: RUBCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | RORA | Louise Daugherty reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ROBO3 | Louise Daugherty reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | RNF216 | Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | RNF170 | Louise Daugherty reviewed gene: RNF170: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | RELN | Louise Daugherty reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | RARS2 | Louise Daugherty reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PUM1 | Louise Daugherty reviewed gene: PUM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PTRH2 | Louise Daugherty reviewed gene: PTRH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PRRT2 | Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PRNP | Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PRKCG | Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PRICKLE1 | Louise Daugherty reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | POLR3A | Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | POLG2 | Louise Daugherty reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | POLG | Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PNPLA6 | Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PNKP | Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PNKD | Louise Daugherty reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PMPCB | Louise Daugherty reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PMPCA | Louise Daugherty reviewed gene: PMPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PLA2G6 | Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PIK3R5 | Louise Daugherty reviewed gene: PIK3R5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PI4KA | Louise Daugherty reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PEX6 | Louise Daugherty reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PEX16 | Louise Daugherty reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PDYN | Louise Daugherty reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PCLO | Louise Daugherty reviewed gene: PCLO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PAX6 | Louise Daugherty reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PAX2 | Louise Daugherty reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PACS2 | Louise Daugherty reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | OPHN1 | Louise Daugherty reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | OPA3 | Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | OPA1 | Louise Daugherty reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | NPC2 | Louise Daugherty reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | NPC1 | Louise Daugherty reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | NKX6-2 | Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | NKX2-1 | Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | NHLRC1 | Louise Daugherty reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | NAGLU | Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MTTP | Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MTPAP | Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MT-ATP6 | Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MSTO1 | Louise Daugherty reviewed gene: MSTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MRE11 | Louise Daugherty reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MORC2 | Louise Daugherty reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MME | Louise Daugherty reviewed gene: MME: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MMACHC | Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MFN2 | Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MARS2 | Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | MAPK8IP3 | Louise Daugherty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | LNPK | Louise Daugherty reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KIF1C | Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KCNQ3 | Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KCNQ2 | Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KCNK18 | Louise Daugherty reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KCNJ10 | Louise Daugherty reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KCND3 | Louise Daugherty reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KCNC3 | Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KCNA2 | Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | KCNA1 | Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ITPR1 | Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | IRF2BPL | Louise Daugherty reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | HTT | Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | HEXB | Louise Daugherty reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | HEXA | Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GRM1 | Louise Daugherty reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GRID2 | Louise Daugherty reviewed gene: GRID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GPAA1 | Louise Daugherty reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GOSR2 | Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GLRB | Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GLRA1 | Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GLI3 | Louise Daugherty reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GJC2 | Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GFAP | Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GDAP2 | Louise Daugherty reviewed gene: GDAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | GBA2 | Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | FXN | Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | FRMD4A | Louise Daugherty reviewed gene: FRMD4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | FOLR1 | Louise Daugherty reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | FMR1 | Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | FLVCR1 | Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | FGF14 | Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EXOSC9 | Louise Daugherty reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EXOSC8 | Louise Daugherty reviewed gene: EXOSC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EXOSC3 | Louise Daugherty reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EPM2A | Louise Daugherty reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ELOVL5 | Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ELOVL4 | Louise Daugherty reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EIF2B5 | Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EIF2B4 | Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EIF2B3 | Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EIF2B2 | Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EIF2B1 | Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | EBF3 | Louise Daugherty reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DYNC1H1 | Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DNMT1 | Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DNAJC5 | Louise Daugherty reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DNAJC19 | Louise Daugherty reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DMXL2 | Louise Daugherty reviewed gene: DMXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DDHD2 | Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DCC | Louise Daugherty reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DARS2 | Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | DAB1 | Louise Daugherty reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CYP2U1 | Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CYP27A1 | Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CWF19L1 | Louise Daugherty reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CSTB | Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CP | Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | COX20 | Louise Daugherty reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | COQ8A | Louise Daugherty reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | COG5 | Louise Daugherty reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | COASY | Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | COA7 | Louise Daugherty reviewed gene: COA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CLP1 | Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CLN6 | Louise Daugherty reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CLCN2 | Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CHMP1A | Louise Daugherty reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CDK5 | Louise Daugherty reviewed gene: CDK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CCDC88C | Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CASK | Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CAPN1 | Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CAMTA1 | Louise Daugherty reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CACNB4 | Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CACNA1G | Louise Daugherty reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CACNA1A | Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CA8 | Louise Daugherty reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | BRF1 | Louise Daugherty reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | BEAN1 | Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | B4GAT1 | Louise Daugherty reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | B3GALNT2 | Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATXN7 | Louise Daugherty reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATXN3 | Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATXN2 | Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATXN10 | Louise Daugherty reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATXN1 | Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATP8A2 | Louise Daugherty reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATP7B | Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATP2B3 | Louise Daugherty reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATP1A3 | Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATP1A2 | Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATN1 | Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATM | Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ATCAY | Louise Daugherty reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ARSA | Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | APTX | Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | AP1S2 | Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ANO10 | Louise Daugherty reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | AMPD2 | Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | AFG3L2 | Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ADPRHL2 | Louise Daugherty reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ADGRG1 | Louise Daugherty reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ADCY5 | Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ABHD12 | Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ABCB7 | Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | AARS | Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | AAAS | Louise Daugherty reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ZNF592 | Tracy Lester reviewed gene: ZNF592: Rating: RED; 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: ; Phenotypes: Galloway-Mowat Syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ZFYVE26 | Tracy Lester reviewed gene: ZFYVE26: 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: ; Phenotypes: Autosomal recessive spastic paraplegia 15, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | XRCC1 | Tracy Lester reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 26, 617633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | WWOX | Tracy Lester reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early infantile epileptic encephalopathy 28, 616211, Autosomal recessive spinocerebellar ataxia 12, 6143232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | WFS1 | Tracy Lester reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | WDR81 | Tracy Lester reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185, Congenital hydrocephalus 3 with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | WDR73 | Tracy Lester reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway-Mowat Syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | VRK1 | Tracy Lester reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 1A, 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | VPS53 | Tracy Lester reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2E, 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | VPS13D | Tracy Lester reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 4, 608877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | VLDLR | Tracy Lester reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | VAMP1 | Tracy Lester reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant spastic ataxia 1, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | UCHL1 | Tracy Lester reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 79, 615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | UBR4 | Tracy Lester reviewed gene: UBR4: Rating: RED; 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: ; Phenotypes: Episodic ataxia type 8, 616055; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | UBA5 | Tracy Lester reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early infantile epileptic encephalopathy 44, 617132, Autosomal recessive spinocerebellar ataxia 24, 617133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TWNK | Tracy Lester reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7, 271245, Perrault syndrome 5, 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TUBB4A | Tracy Lester reviewed gene: TUBB4A: 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: ; Phenotypes: Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TUBB3 | Tracy Lester reviewed gene: TUBB3: 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: ; Phenotypes: Complex cortical dysplasia with other brain abnormalities 1, 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TUBB2B | Tracy Lester reviewed gene: TUBB2B: 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: ; Phenotypes: Complex cortical dysplasia with other brain abnormalities 7, 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TUBB2A | Tracy Lester reviewed gene: TUBB2A: Rating: AMBER; 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: ; Phenotypes: Complex cortical dysplasia with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TUBB | Tracy Lester reviewed gene: TUBB: Rating: AMBER; 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: ; Phenotypes: Complex cortical dysplasia with other brain malformations 6, 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TUBA8 | Tracy Lester reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Complex cortical dysplasia with other brain malformations 8, 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TUBA1A | Tracy Lester reviewed gene: TUBA1A: 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: ; Phenotypes: Lissencephaly 3, 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TTPA | Tracy Lester reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, 277460; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TTC19 | Tracy Lester reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency nuclear type II, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TTBK2 | Tracy Lester reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11, 604432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TSEN54 | Tracy Lester reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 5, 610204, Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TSEN34 | Tracy Lester reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2C, 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TSEN2 | Tracy Lester reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TSEN15 | Tracy Lester reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2F, 617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TPP1 | Tracy Lester reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuronal ceroid lipofuscinosis, 204500, Autosomal recessive spinocerebellar ataxia 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TOE1 | Tracy Lester reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 7, 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TMEM240 | Tracy Lester reviewed gene: TMEM240: 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: ; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TMEM106B | Tracy Lester reviewed gene: TMEM106B: 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: ; Phenotypes: Hypomyelinating leukodystrophy 16, 617964; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TINF2 | Tracy Lester reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant dyskeratosis congenita 3, 613990, Revesz syndrome, 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | THG1L | Tracy Lester reviewed gene: THG1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia with developmental delay, Not listed on ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TGM6 | Tracy Lester reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TERT | Tracy Lester reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, 613989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TDP1 | Tracy Lester reviewed gene: TDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TBC1D23 | Tracy Lester reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 11, 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SYT14 | Tracy Lester reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 11, 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SYNGAP1 | Tracy Lester reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant mental retardation 5, 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SYNE1 | Tracy Lester reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia type 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | STUB1 | Tracy Lester reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia type 16, 615768; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SRD5A3 | Tracy Lester reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type Iq, 612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SQSTM1 | Tracy Lester reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SPTBN2 | Tracy Lester reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 5, 600224, Autosomal recessive spinocerebellar ataxia 14, 615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SPR | Tracy Lester reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SPG7 | Tracy Lester reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 7, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SNX14 | Tracy Lester reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 20, 616354; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SMPD4 | Tracy Lester reviewed gene: SMPD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Unknown; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SLC9A1 | Tracy Lester reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lichtenstein-Knorr Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SLC6A5 | Tracy Lester reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SLC52A2 | Tracy Lester reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bwon-Vialetto-Van Laere syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SLC39A8 | Tracy Lester reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type IIN, 616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SLC2A1 | Tracy Lester reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 9, 601042, GLUT1 deficiency syndrome 1, 606777, GLUT1 deficiency syndrome 2, 612126; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SLC25A46 | Tracy Lester reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SLC25A32 | Tracy Lester reviewed gene: SLC25A32: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Riboflavin-responsive exericise intolerance, 616839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SLC1A3 | Tracy Lester reviewed gene: SLC1A3: 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: ; Phenotypes: Episodic ataxia type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SIL1 | Tracy Lester reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SETX | Tracy Lester reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia type 1, 606002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SEPSECS | Tracy Lester reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D, 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SCYL1 | Tracy Lester reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SCN9A | Tracy Lester reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SCN8A | Tracy Lester reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cognitive impairment with or without cerebellar ataxia, 614306, Epileptic encephalopathy 13, 614558, Benign familial infantile seizures 5, 617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SCN1A | Tracy Lester reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Generalised epilepsy with febrile seizures type 2, 604403, Epileptic encephalopathy 6, 607208, Familial febrile seziures 3A, 604403, Familial hemiplegic migraine 3, 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SAR1B | Tracy Lester reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease, 246700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SAMD9L | Tracy Lester reviewed gene: SAMD9L: 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: ; Phenotypes: Ataxia-pancytopenia syndrome, 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | SACS | Tracy Lester reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charlevoix-Saguenay spastic ataxia, 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | RUBCN | Tracy Lester reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 15, 615705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | RORA | Tracy Lester reviewed gene: RORA: 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: ; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ROBO3 | Tracy Lester reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial horizontal gaze palsy with progressive scoliosis, 607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | RNF216 | Tracy Lester reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotrophic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | RNF170 | Tracy Lester reviewed gene: RNF170: 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: ; Phenotypes: Autosomal dominant sensory ataxia 1, 608984; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | RELN | Tracy Lester reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lissencephaly 2, 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | RARS2 | Tracy Lester reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 6, 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PUM1 | Tracy Lester reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 47, 617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PTRH2 | Tracy Lester reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PRRT2 | Tracy Lester reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial infantile convulsions with paroxysmal dyskinesia 1, 602066, episodic kinesigenic dyskinesia, 128200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PRNP | Tracy Lester reviewed gene: PRNP: 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: ; Phenotypes: Multiple allelic disorders reported; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PRKCG | Tracy Lester reviewed gene: PRKCG: 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: ; Phenotypes: Spincocerebellar ataxia 14, 605361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PRICKLE1 | Tracy Lester reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 1B, 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | POLR3A | Tracy Lester reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | POLG2 | Tracy Lester reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | POLG | Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662, Mitochondrial recessive ataxia syndrome, 607459, autosomal dominant progressive external ophthalmoplegia, 157640 and autosomal recessive progressive external opthalmoplegia, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PNPLA6 | Tracy Lester reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Boucher-Neuhauser syndrome, 215470, Oliver-McFarlane syndrome, 275400, Sapstic paraplegia 39, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PNKP | Tracy Lester reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-oculomotor apraxia 4, 616267, Microcephaly, seizures and developmental delay, 613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PNKD | Tracy Lester reviewed gene: PNKD: Rating: AMBER; 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: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PMPCB | Tracy Lester reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PMPCA | Tracy Lester reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 2, 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PLA2G6 | Tracy Lester reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1, 256600, Neurodegeneration with brain iron accumulation 2B, 610217, Autosomal recessive Parkinson disease 14, 612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PIK3R5 | Tracy Lester reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-oculomotor apraxia 3, 615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PI4KA | Tracy Lester reviewed gene: PI4KA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PEX6 | Tracy Lester reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A, 614862 and 4B, 614863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PEX16 | Tracy Lester reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A, 614876 and 8B, 614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PDYN | Tracy Lester reviewed gene: PDYN: Rating: AMBER; 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: ; Phenotypes: Spinocerebellar ataxia 23, 610245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PCLO | Tracy Lester reviewed gene: PCLO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 3, 608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PAX6 | Tracy Lester reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PAX2 | Tracy Lester reviewed gene: PAX2: Rating: RED; 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: ; Phenotypes: Papillorenal syndrome, AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PACS2 | Tracy Lester reviewed gene: PACS2: 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: ; Phenotypes: Early infantile epileptic encephalopathy 66, 618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | OPHN1 | Tracy Lester reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | OPA3 | Tracy Lester reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria type III, 258501, Optic atrophy 3 with cataract, 165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | OPA1 | Tracy Lester reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250, Behr syndrome, 210000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | NPC2 | Tracy Lester reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease type C2, 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | NPC1 | Tracy Lester reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease type C1, 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | NKX6-2 | Tracy Lester reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | NKX2-1 | Tracy Lester reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary bening chorea, 118700, Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | NHLRC1 | Tracy Lester reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 2B, Lafora, 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | NAGLU | Tracy Lester reviewed gene: NAGLU: Rating: RED; 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: ; Phenotypes: CMT axon type 2V, 616491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MTTP | Tracy Lester reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MTPAP | Tracy Lester reviewed gene: MTPAP: Rating: AMBER; 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: ; Phenotypes: Autosomal recessive spastic ataxia 4, 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MT-ATP6 | Tracy Lester reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MSTO1 | Tracy Lester reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial myopathy and ataxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MRE11 | Tracy Lester reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder 1, 604391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MORC2 | Tracy Lester reviewed gene: MORC2: 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: ; Phenotypes: Axonal type CMT disease type 2Z, 616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MME | Tracy Lester reviewed gene: MME: Rating: RED; 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: ; Phenotypes: Spinocerebellar ataxia type 43, 617018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MMACHC | Tracy Lester reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MFN2 | Tracy Lester reviewed gene: MFN2: 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: ; Phenotypes: Dominant optic atrophy plus, not listed in ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MARS2 | Tracy Lester reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic ataxia 3, 611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | MAPK8IP3 | Tracy Lester reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ID with variable brain anomalies, not included in ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | LNPK | Tracy Lester reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KIF1C | Tracy Lester reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic ataxia 2, 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KCNQ3 | Tracy Lester reviewed gene: KCNQ3: Rating: AMBER; 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: ; Phenotypes: Benign neonatal seizures 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KCNQ2 | Tracy Lester reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early infantile encephalopathy 7, 613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KCNK18 | Tracy Lester reviewed gene: KCNK18: Rating: RED; 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: ; Phenotypes: Susceptibility to migraine with/without arua 13, 613656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KCNJ10 | Tracy Lester reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SESAME syndrome, 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KCND3 | Tracy Lester reviewed gene: KCND3: 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: ; Phenotypes: Spinocerebellar ataxia 19, 607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KCNC3 | Tracy Lester reviewed gene: KCNC3: 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: ; Phenotypes: Spinocerebellar ataxia 13, 605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KCNA2 | Tracy Lester reviewed gene: KCNA2: 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: ; Phenotypes: Early infantile encephalopathy 32, 616366 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | KCNA1 | Tracy Lester reviewed gene: KCNA1: 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: ; Phenotypes: Episodic ataxia/myokymia syndrome, 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ITPR1 | Tracy Lester reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Gillespie syndrome, 206700, Spinocerebellar ataxia 15, 606658, Spinocerebellar ataxia 29, 117360; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | IRF2BPL | Tracy Lester reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | HTT | Tracy Lester reviewed gene: HTT: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Huntington disease, 143100, 617432; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | HEXB | Tracy Lester reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sandhoff disease, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | HEXA | Tracy Lester reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GRM1 | Tracy Lester reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GRID2 | Tracy Lester reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GPAA1 | Tracy Lester reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GOSR2 | Tracy Lester reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GLRB | Tracy Lester reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GLRA1 | Tracy Lester reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GLI3 | Tracy Lester reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Greig syndrome, 175700, Pallister-Hall syndrome, 146510, Polydactyly types A1/B, 174200, Polydactyly type IV, 174700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GJC2 | Tracy Lester reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 2, 608804, Spastic paraplegia 44, 613206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GFAP | Tracy Lester reviewed gene: GFAP: 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: ; Phenotypes: Alexander disease, 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GDAP2 | Tracy Lester reviewed gene: GDAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia, not listed in ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | GBA2 | Tracy Lester reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | FXN | Tracy Lester reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreich ataxia, 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | FRMD4A | Tracy Lester reviewed gene: FRMD4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Agenesis of corpus callosum with facial anomalies and cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | FOLR1 | Tracy Lester reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | FMR1 | Tracy Lester reviewed gene: FMR1: 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: ; Phenotypes: Fragile X tremor/ataxia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | FLVCR1 | Tracy Lester reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior column ataxia with retinitis pigmentosa, 609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | FGF14 | Tracy Lester reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia type 27, 609307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EXOSC9 | Tracy Lester reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1D, 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EXOSC8 | Tracy Lester reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EXOSC3 | Tracy Lester reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EPM2A | Tracy Lester reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 2A, Lafora, 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ELOVL5 | Tracy Lester reviewed gene: ELOVL5: 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: ; Phenotypes: Spinocerebellar ataxia 38, 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ELOVL4 | Tracy Lester reviewed gene: ELOVL4: 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: ; Phenotypes: Spinocerebellar ataxia 34, 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EIF2B5 | Tracy Lester reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EIF2B4 | Tracy Lester reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EIF2B3 | Tracy Lester reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EIF2B2 | Tracy Lester reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EIF2B1 | Tracy Lester reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | EBF3 | Tracy Lester reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypotonia, ataxia and delayed development syndrome, 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DYNC1H1 | Tracy Lester reviewed gene: DYNC1H1: 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: ; Phenotypes: Autosomal dominant MR 13, 614563 most relevant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DNMT1 | Tracy Lester reviewed gene: DNMT1: 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: ; Phenotypes: Cerebellar ataxia, deafness and narcolepsy, 604121, Hereditary sensory neuropathy type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DNAJC5 | Tracy Lester reviewed gene: DNAJC5: 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: ; Phenotypes: Ceroid neuronal lipofuscinosis 4, Parry type, 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DNAJC19 | Tracy Lester reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria type V, 610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DMXL2 | Tracy Lester reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyendocrine-polyneuropathy syndrome, 616113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DDHD2 | Tracy Lester reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 54; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DCC | Tracy Lester reviewed gene: DCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DARS2 | Tracy Lester reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | DAB1 | Tracy Lester reviewed gene: DAB1: 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: ; Phenotypes: Spinocerebellar ataxia 37, 615945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CYP2U1 | Tracy Lester reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia type 56, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CYP27A1 | Tracy Lester reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CWF19L1 | Tracy Lester reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia type 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CSTB | Tracy Lester reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 1A, 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CP | Tracy Lester reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | COX20 | Tracy Lester reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | COQ8A | Tracy Lester reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary coenzyme Q10 deficiency 4, 612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | COG5 | Tracy Lester reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type 2i, 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | COASY | Tracy Lester reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 6, 615643, Pontocerebellar hypoplasia type 12, 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | COA7 | Tracy Lester reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia with axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CLP1 | Tracy Lester reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CLN6 | Tracy Lester reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid neuronal lipofuscinosis 6, 601780 and Ceroid neuronal lipofuscinosis kufs type, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CLCN2 | Tracy Lester reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CHMP1A | Tracy Lester reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CDK5 | Tracy Lester reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CCDC88C | Tracy Lester reviewed gene: CCDC88C: Rating: RED; 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: ; Phenotypes: Spinocerebellar ataxia 40, 616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CASK | Tracy Lester reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, FG syndrome 4, 300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CAPN1 | Tracy Lester reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia type 76, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CAMTA1 | Tracy Lester reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CACNB4 | Tracy Lester reviewed gene: CACNB4: Rating: RED; 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: ; Phenotypes: Episodic ataxia type 5, 613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CACNA1G | Tracy Lester reviewed gene: CACNA1G: 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: ; Phenotypes: Spinocerebellar ataxia 42, 616795 and early-onset SCA42 with neurodevelopmental deficits, 618087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CACNA1A | Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia type 2, 108500, Familial hemiplegic migraine 1, 141500, SCA6, 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CA8 | Tracy Lester reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | BRF1 | Tracy Lester reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrofaciodental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | BEAN1 | Tracy Lester reviewed gene: BEAN1: 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: ; Phenotypes: Spinocerebellar ataxia 31, 117210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | B4GAT1 | Tracy Lester reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy type A13, 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | B3GALNT2 | Tracy Lester reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy type A11, 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATXN7 | Tracy Lester reviewed gene: ATXN7: 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: ; Phenotypes: Spinocerebellar ataxia 7, 164500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATXN3 | Tracy Lester reviewed gene: ATXN3: 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: ; Phenotypes: Machado-Joseph disease, 109150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATXN2 | Tracy Lester reviewed gene: ATXN2: 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: ; Phenotypes: Spinocerebellar ataxia 2, 183090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATXN10 | Tracy Lester reviewed gene: ATXN10: 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: ; Phenotypes: Spinocerebellar ataxia 10, 603516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATXN1 | Tracy Lester reviewed gene: ATXN1: 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: ; Phenotypes: Spinocerebellar ataxia 1, 164400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATP8A2 | Tracy Lester reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATP7B | Tracy Lester reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease, 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATP2B3 | Tracy Lester reviewed gene: ATP2B3: Rating: AMBER; 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: ; Phenotypes: X-linked spinocerebellar ataxia, 302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATP1A3 | Tracy Lester reviewed gene: ATP1A3: 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: ; Phenotypes: Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome, 601338, Dystonia-12, 128235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATP1A2 | Tracy Lester reviewed gene: ATP1A2: 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: ; Phenotypes: Alternating hemiplegia of childhood 1, 104290, Familial hemiplegic migraine 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATN1 | Tracy Lester reviewed gene: ATN1: 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: ; Phenotypes: Dentato-pallidoluysian atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATM | Tracy Lester reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia, 607585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ATCAY | Tracy Lester reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cayman Ataxia, 601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ARSA | Tracy Lester reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic Leukodystrophy, 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | APTX | Tracy Lester reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early onset ataxia with oculomotor apraxia and hypoalbuminemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | AP1S2 | Tracy Lester reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ANO10 | Tracy Lester reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia autosomal recessive type 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | AMPD2 | Tracy Lester reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hyoplasia 9, 615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | AFG3L2 | Tracy Lester reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, 610246 and spastic ataxia 5, 614487; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ADPRHL2 | Tracy Lester reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ADGRG1 | Tracy Lester reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polymicrogyria, Frontoparietal and perisylvian types, 606854, 615752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ADCY5 | Tracy Lester reviewed gene: ADCY5: 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: ; Phenotypes: Dyskinesia with facial myokymia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ABHD12 | Tracy Lester reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ABCB7 | Tracy Lester reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Anemia, sideroblast with ataxia, 300135; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | AARS | Tracy Lester reviewed gene: AARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CMT 2N 613287, EIEE29, 616339; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | AAAS | Tracy Lester reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Triple A syndrome, 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | TBP_CAG | Louise Daugherty commented on STR: TBP_CAG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Associated with CAG expansions. Requires STR calling - no evidence for SNVs. Note that median onset described as 23 in OMIM so 'childhood' onset possible. Do you report variants in this gene as part of your current diagnostic practice? No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | PPP2R2B_CAG | Louise Daugherty commented on STR: PPP2R2B_CAG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Associated with CAG expanions, no evidence for SNVs - requires STR calling. Do you report variants in this gene as part of your current diagnostic practice? No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | NOP56_GGCCTG | Louise Daugherty commented on STR: NOP56_GGCCTG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Multiple reports in the lit - requires STR reporting, no evidence for SNVs. Do you report variants in this gene as part of your current diagnostic practice? No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | FXN_GAA | Louise Daugherty commented on STR: FXN_GAA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Needs care with filtering here - SNVs in compound het with expansion can be pathogenic. Needs availability of a mixed STR/SNV model for inheritance OR no filtering of single LoF variants. Do you report variants in this gene as part of your current diagnostic practice? No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | ISCA-37404-Loss | Louise Daugherty edited their review of Region: ISCA-37404-Loss: Changed phenotypes: Angelman syndrome (OMIM 105830) and Prader-Willi syndrome (OMIM 176270) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | ISCA-37478-Gain | Louise Daugherty reviewed Region: ISCA-37478-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 15q duplication syndrome; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | ISCA-37468-Loss | Louise Daugherty reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | ISCA-37404-Loss | Louise Daugherty reviewed Region: ISCA-37404-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | ISCA-37478-Gain | Louise Daugherty Source NHS GMS was added to Region: ISCA-37478-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | ISCA-37468-Loss | Louise Daugherty Source NHS GMS was added to Region: ISCA-37468-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.6 | ISCA-37404-Loss | Louise Daugherty Source NHS GMS was added to Region: ISCA-37404-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.5 | ISCA-37478-Gain |
Louise Daugherty Source Wessex and West Midlands GLH was added to Region: ISCA-37478-Gain. Publications for Region: ISCA-37478-Gain were changed from 18374305; 9106540; 16840569 to 16840569; 18374305; 9106540 |
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Hereditary ataxia with onset in adulthood v1.5 | ISCA-37468-Loss |
Louise Daugherty Source Wessex and West Midlands GLH was added to Region: ISCA-37468-Loss. Added phenotypes hypotonia; episodes of sudden loss of muscle tone; short stature; severe intellectual disability; autistic features; eleveated serotonin levels; exiting behavior; lip-smacking; stereotypical hand movements for Region: ISCA-37468-Loss Publications for Region: ISCA-37468-Loss were changed from 20485326; 22365943; 23414621 to 23414621; 20485326; 22365943 |
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Hereditary ataxia with onset in adulthood v1.5 | ISCA-37404-Loss |
Louise Daugherty Source Wessex and West Midlands GLH was added to Region: ISCA-37404-Loss. Added phenotypes 105831; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37404-Loss Publications for Region: ISCA-37404-Loss were changed from 22045295; 7611294 to 7611294; 22045295 |
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Hereditary ataxia with onset in adulthood v1.4 | TBP_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.4 | PPP2R2B_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: PPP2R2B_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.4 | NOP56_GGCCTG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: NOP56_GGCCTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.4 | FXN_GAA | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.3 | TBP_CAG |
Louise Daugherty Source NHS GMS was added to STR: TBP_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v1.3 | PPP2R2B_CAG |
Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v1.3 | NOP56_GGCCTG |
Louise Daugherty Source NHS GMS was added to STR: NOP56_GGCCTG. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v1.3 | FXN_GAA |
Louise Daugherty Source NHS GMS was added to STR: FXN_GAA. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Hereditary ataxia with onset in adulthood v1.2 | ZNF592 | Louise Daugherty Source NHS GMS was added to ZNF592. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ZFYVE26 | Louise Daugherty Source NHS GMS was added to ZFYVE26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | XRCC1 | Louise Daugherty Source NHS GMS was added to XRCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | WWOX | Louise Daugherty Source NHS GMS was added to WWOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | WFS1 | Louise Daugherty Source NHS GMS was added to WFS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | WDR81 | Louise Daugherty Source NHS GMS was added to WDR81. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | WDR73 | Louise Daugherty Source NHS GMS was added to WDR73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | VRK1 | Louise Daugherty Source NHS GMS was added to VRK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | VPS53 | Louise Daugherty Source NHS GMS was added to VPS53. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | VPS13D | Louise Daugherty Source NHS GMS was added to VPS13D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | VLDLR | Louise Daugherty Source NHS GMS was added to VLDLR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | VAMP1 | Louise Daugherty Source NHS GMS was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | UCHL1 | Louise Daugherty Source NHS GMS was added to UCHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | UBR4 | Louise Daugherty Source NHS GMS was added to UBR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | UBA5 | Louise Daugherty Source NHS GMS was added to UBA5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TWNK | Louise Daugherty Source NHS GMS was added to TWNK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TUBB4A | Louise Daugherty Source NHS GMS was added to TUBB4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TUBB3 | Louise Daugherty Source NHS GMS was added to TUBB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TUBB2B | Louise Daugherty Source NHS GMS was added to TUBB2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TUBB2A | Louise Daugherty Source NHS GMS was added to TUBB2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TUBB | Louise Daugherty Source NHS GMS was added to TUBB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TUBA8 | Louise Daugherty Source NHS GMS was added to TUBA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TUBA1A | Louise Daugherty Source NHS GMS was added to TUBA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TTPA | Louise Daugherty Source NHS GMS was added to TTPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TTC19 | Louise Daugherty Source NHS GMS was added to TTC19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TTBK2 | Louise Daugherty Source NHS GMS was added to TTBK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TSEN54 | Louise Daugherty Source NHS GMS was added to TSEN54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TSEN34 | Louise Daugherty Source NHS GMS was added to TSEN34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TSEN2 | Louise Daugherty Source NHS GMS was added to TSEN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TSEN15 | Louise Daugherty Source NHS GMS was added to TSEN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TPP1 | Louise Daugherty Source NHS GMS was added to TPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TOE1 | Louise Daugherty Source NHS GMS was added to TOE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TMEM240 | Louise Daugherty Source NHS GMS was added to TMEM240. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TMEM106B | Louise Daugherty Source NHS GMS was added to TMEM106B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TINF2 | Louise Daugherty Source NHS GMS was added to TINF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | THG1L | Louise Daugherty Source NHS GMS was added to THG1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TGM6 | Louise Daugherty Source NHS GMS was added to TGM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TERT | Louise Daugherty Source NHS GMS was added to TERT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TDP1 | Louise Daugherty Source NHS GMS was added to TDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TBC1D23 | Louise Daugherty Source NHS GMS was added to TBC1D23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SYT14 | Louise Daugherty Source NHS GMS was added to SYT14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SYNGAP1 | Louise Daugherty Source NHS GMS was added to SYNGAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SYNE1 | Louise Daugherty Source NHS GMS was added to SYNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | STUB1 | Louise Daugherty Source NHS GMS was added to STUB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SRD5A3 | Louise Daugherty Source NHS GMS was added to SRD5A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SQSTM1 | Louise Daugherty Source NHS GMS was added to SQSTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SPTBN2 | Louise Daugherty Source NHS GMS was added to SPTBN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SPR | Louise Daugherty Source NHS GMS was added to SPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SPG7 | Louise Daugherty Source NHS GMS was added to SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SNX14 | Louise Daugherty Source NHS GMS was added to SNX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SMPD4 | Louise Daugherty Source NHS GMS was added to SMPD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SLC9A1 | Louise Daugherty Source NHS GMS was added to SLC9A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SLC6A5 | Louise Daugherty Source NHS GMS was added to SLC6A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SLC52A2 | Louise Daugherty Source NHS GMS was added to SLC52A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SLC39A8 | Louise Daugherty Source NHS GMS was added to SLC39A8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SLC2A1 | Louise Daugherty Source NHS GMS was added to SLC2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SLC25A46 | Louise Daugherty Source NHS GMS was added to SLC25A46. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SLC25A32 | Louise Daugherty Source NHS GMS was added to SLC25A32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SLC1A3 | Louise Daugherty Source NHS GMS was added to SLC1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SIL1 | Louise Daugherty Source NHS GMS was added to SIL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SETX | Louise Daugherty Source NHS GMS was added to SETX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SEPSECS | Louise Daugherty Source NHS GMS was added to SEPSECS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SCYL1 | Louise Daugherty Source NHS GMS was added to SCYL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SCN9A | Louise Daugherty Source NHS GMS was added to SCN9A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SCN8A | Louise Daugherty Source NHS GMS was added to SCN8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SCN1A | Louise Daugherty Source NHS GMS was added to SCN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SAR1B | Louise Daugherty Source NHS GMS was added to SAR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SAMD9L | Louise Daugherty Source NHS GMS was added to SAMD9L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | SACS | Louise Daugherty Source NHS GMS was added to SACS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | RUBCN | Louise Daugherty Source NHS GMS was added to RUBCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | RORA | Louise Daugherty Source NHS GMS was added to RORA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ROBO3 | Louise Daugherty Source NHS GMS was added to ROBO3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | RNF216 | Louise Daugherty Source NHS GMS was added to RNF216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | RNF170 | Louise Daugherty Source NHS GMS was added to RNF170. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | RELN | Louise Daugherty Source NHS GMS was added to RELN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | RARS2 | Louise Daugherty Source NHS GMS was added to RARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PUM1 | Louise Daugherty Source NHS GMS was added to PUM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PTRH2 | Louise Daugherty Source NHS GMS was added to PTRH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PRRT2 | Louise Daugherty Source NHS GMS was added to PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PRNP | Louise Daugherty Source NHS GMS was added to PRNP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PRKCG | Louise Daugherty Source NHS GMS was added to PRKCG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PRICKLE1 | Louise Daugherty Source NHS GMS was added to PRICKLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | POLR3A | Louise Daugherty Source NHS GMS was added to POLR3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | POLG2 | Louise Daugherty Source NHS GMS was added to POLG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | POLG | Louise Daugherty Source NHS GMS was added to POLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PNPLA6 | Louise Daugherty Source NHS GMS was added to PNPLA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PNKP | Louise Daugherty Source NHS GMS was added to PNKP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PNKD | Louise Daugherty Source NHS GMS was added to PNKD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PMPCB | Louise Daugherty Source NHS GMS was added to PMPCB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PMPCA | Louise Daugherty Source NHS GMS was added to PMPCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PLA2G6 | Louise Daugherty Source NHS GMS was added to PLA2G6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PIK3R5 | Louise Daugherty Source NHS GMS was added to PIK3R5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PI4KA | Louise Daugherty Source NHS GMS was added to PI4KA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PEX6 | Louise Daugherty Source NHS GMS was added to PEX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PEX16 | Louise Daugherty Source NHS GMS was added to PEX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PDYN | Louise Daugherty Source NHS GMS was added to PDYN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PCLO | Louise Daugherty Source NHS GMS was added to PCLO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PAX6 | Louise Daugherty Source NHS GMS was added to PAX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PAX2 | Louise Daugherty Source NHS GMS was added to PAX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PACS2 | Louise Daugherty Source NHS GMS was added to PACS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | OPHN1 | Louise Daugherty Source NHS GMS was added to OPHN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | OPA3 | Louise Daugherty Source NHS GMS was added to OPA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | OPA1 | Louise Daugherty Source NHS GMS was added to OPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | NPC2 | Louise Daugherty Source NHS GMS was added to NPC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | NPC1 | Louise Daugherty Source NHS GMS was added to NPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | NKX6-2 | Louise Daugherty Source NHS GMS was added to NKX6-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | NKX2-1 | Louise Daugherty Source NHS GMS was added to NKX2-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | NHLRC1 | Louise Daugherty Source NHS GMS was added to NHLRC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | NAGLU | Louise Daugherty Source NHS GMS was added to NAGLU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MTTP | Louise Daugherty Source NHS GMS was added to MTTP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MTPAP | Louise Daugherty Source NHS GMS was added to MTPAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MT-ATP6 | Louise Daugherty Source NHS GMS was added to MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MSTO1 | Louise Daugherty Source NHS GMS was added to MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MRE11 | Louise Daugherty Source NHS GMS was added to MRE11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MORC2 | Louise Daugherty Source NHS GMS was added to MORC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MME | Louise Daugherty Source NHS GMS was added to MME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MMACHC | Louise Daugherty Source NHS GMS was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MFN2 | Louise Daugherty Source NHS GMS was added to MFN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MARS2 | Louise Daugherty Source NHS GMS was added to MARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | MAPK8IP3 | Louise Daugherty Source NHS GMS was added to MAPK8IP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | LNPK | Louise Daugherty Source NHS GMS was added to LNPK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KIF1C | Louise Daugherty Source NHS GMS was added to KIF1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KCNQ3 | Louise Daugherty Source NHS GMS was added to KCNQ3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KCNQ2 | Louise Daugherty Source NHS GMS was added to KCNQ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KCNK18 | Louise Daugherty Source NHS GMS was added to KCNK18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KCNJ10 | Louise Daugherty Source NHS GMS was added to KCNJ10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KCND3 | Louise Daugherty Source NHS GMS was added to KCND3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KCNC3 | Louise Daugherty Source NHS GMS was added to KCNC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KCNA2 | Louise Daugherty Source NHS GMS was added to KCNA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | KCNA1 | Louise Daugherty Source NHS GMS was added to KCNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ITPR1 | Louise Daugherty Source NHS GMS was added to ITPR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | IRF2BPL | Louise Daugherty Source NHS GMS was added to IRF2BPL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | HTT | Louise Daugherty Source NHS GMS was added to HTT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | HEXB | Louise Daugherty Source NHS GMS was added to HEXB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | HEXA | Louise Daugherty Source NHS GMS was added to HEXA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GRM1 | Louise Daugherty Source NHS GMS was added to GRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GRID2 | Louise Daugherty Source NHS GMS was added to GRID2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GPAA1 | Louise Daugherty Source NHS GMS was added to GPAA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GOSR2 | Louise Daugherty Source NHS GMS was added to GOSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GLRB | Louise Daugherty Source NHS GMS was added to GLRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GLRA1 | Louise Daugherty Source NHS GMS was added to GLRA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GLI3 | Louise Daugherty Source NHS GMS was added to GLI3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GJC2 | Louise Daugherty Source NHS GMS was added to GJC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GFAP | Louise Daugherty Source NHS GMS was added to GFAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GDAP2 | Louise Daugherty Source NHS GMS was added to GDAP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | GBA2 | Louise Daugherty Source NHS GMS was added to GBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | FXN | Louise Daugherty Source NHS GMS was added to FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | FRMD4A | Louise Daugherty Source NHS GMS was added to FRMD4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | FOLR1 | Louise Daugherty Source NHS GMS was added to FOLR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | FMR1 | Louise Daugherty Source NHS GMS was added to FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | FLVCR1 | Louise Daugherty Source NHS GMS was added to FLVCR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | FGF14 | Louise Daugherty Source NHS GMS was added to FGF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EXOSC9 | Louise Daugherty Source NHS GMS was added to EXOSC9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EXOSC8 | Louise Daugherty Source NHS GMS was added to EXOSC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EXOSC3 | Louise Daugherty Source NHS GMS was added to EXOSC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EPM2A | Louise Daugherty Source NHS GMS was added to EPM2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ELOVL5 | Louise Daugherty Source NHS GMS was added to ELOVL5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ELOVL4 | Louise Daugherty Source NHS GMS was added to ELOVL4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EIF2B5 | Louise Daugherty Source NHS GMS was added to EIF2B5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EIF2B4 | Louise Daugherty Source NHS GMS was added to EIF2B4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EIF2B3 | Louise Daugherty Source NHS GMS was added to EIF2B3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EIF2B2 | Louise Daugherty Source NHS GMS was added to EIF2B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EIF2B1 | Louise Daugherty Source NHS GMS was added to EIF2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | EBF3 | Louise Daugherty Source NHS GMS was added to EBF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DYNC1H1 | Louise Daugherty Source NHS GMS was added to DYNC1H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DNMT1 | Louise Daugherty Source NHS GMS was added to DNMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DNAJC5 | Louise Daugherty Source NHS GMS was added to DNAJC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DNAJC19 | Louise Daugherty Source NHS GMS was added to DNAJC19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DMXL2 | Louise Daugherty Source NHS GMS was added to DMXL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DDHD2 | Louise Daugherty Source NHS GMS was added to DDHD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DCC | Louise Daugherty Source NHS GMS was added to DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DARS2 | Louise Daugherty Source NHS GMS was added to DARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | DAB1 | Louise Daugherty Source NHS GMS was added to DAB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CYP2U1 | Louise Daugherty Source NHS GMS was added to CYP2U1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CYP27A1 | Louise Daugherty Source NHS GMS was added to CYP27A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CWF19L1 | Louise Daugherty Source NHS GMS was added to CWF19L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CSTB | Louise Daugherty Source NHS GMS was added to CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CP | Louise Daugherty Source NHS GMS was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | COX20 | Louise Daugherty Source NHS GMS was added to COX20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | COQ8A | Louise Daugherty Source NHS GMS was added to COQ8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | COG5 | Louise Daugherty Source NHS GMS was added to COG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | COASY | Louise Daugherty Source NHS GMS was added to COASY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | COA7 | Louise Daugherty Source NHS GMS was added to COA7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CLP1 | Louise Daugherty Source NHS GMS was added to CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CLN6 | Louise Daugherty Source NHS GMS was added to CLN6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CLCN2 | Louise Daugherty Source NHS GMS was added to CLCN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CHMP1A | Louise Daugherty Source NHS GMS was added to CHMP1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CDK5 | Louise Daugherty Source NHS GMS was added to CDK5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CCDC88C | Louise Daugherty Source NHS GMS was added to CCDC88C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CASK | Louise Daugherty Source NHS GMS was added to CASK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CAPN1 | Louise Daugherty Source NHS GMS was added to CAPN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CAMTA1 | Louise Daugherty Source NHS GMS was added to CAMTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CACNB4 | Louise Daugherty Source NHS GMS was added to CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CACNA1G | Louise Daugherty Source NHS GMS was added to CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CACNA1A | Louise Daugherty Source NHS GMS was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CA8 | Louise Daugherty Source NHS GMS was added to CA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | BRF1 | Louise Daugherty Source NHS GMS was added to BRF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | BEAN1 | Louise Daugherty Source NHS GMS was added to BEAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | B4GAT1 | Louise Daugherty Source NHS GMS was added to B4GAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | B3GALNT2 | Louise Daugherty Source NHS GMS was added to B3GALNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATXN7 | Louise Daugherty Source NHS GMS was added to ATXN7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATXN3 | Louise Daugherty Source NHS GMS was added to ATXN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATXN2 | Louise Daugherty Source NHS GMS was added to ATXN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATXN10 | Louise Daugherty Source NHS GMS was added to ATXN10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATXN1 | Louise Daugherty Source NHS GMS was added to ATXN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATP8A2 | Louise Daugherty Source NHS GMS was added to ATP8A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATP7B | Louise Daugherty Source NHS GMS was added to ATP7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATP2B3 | Louise Daugherty Source NHS GMS was added to ATP2B3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATP1A3 | Louise Daugherty Source NHS GMS was added to ATP1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATP1A2 | Louise Daugherty Source NHS GMS was added to ATP1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATN1 | Louise Daugherty Source NHS GMS was added to ATN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATM | Louise Daugherty Source NHS GMS was added to ATM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ATCAY | Louise Daugherty Source NHS GMS was added to ATCAY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ARSA | Louise Daugherty Source NHS GMS was added to ARSA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | APTX | Louise Daugherty Source NHS GMS was added to APTX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | AP1S2 | Louise Daugherty Source NHS GMS was added to AP1S2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ANO10 | Louise Daugherty Source NHS GMS was added to ANO10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | AMPD2 | Louise Daugherty Source NHS GMS was added to AMPD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | AFG3L2 | Louise Daugherty Source NHS GMS was added to AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ADPRHL2 | Louise Daugherty Source NHS GMS was added to ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ADGRG1 | Louise Daugherty Source NHS GMS was added to ADGRG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ADCY5 | Louise Daugherty Source NHS GMS was added to ADCY5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ABHD12 | Louise Daugherty Source NHS GMS was added to ABHD12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ABCB7 | Louise Daugherty Source NHS GMS was added to ABCB7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | AARS | Louise Daugherty Source NHS GMS was added to AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | AAAS | Louise Daugherty Source NHS GMS was added to AAAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ZNF592 | Louise Daugherty Source Wessex and West Midlands GLH was added to ZNF592. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ZFYVE26 | Louise Daugherty Source Wessex and West Midlands GLH was added to ZFYVE26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | XRCC1 | Louise Daugherty Source Wessex and West Midlands GLH was added to XRCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | WWOX | Louise Daugherty Source Wessex and West Midlands GLH was added to WWOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | WFS1 | Louise Daugherty Source Wessex and West Midlands GLH was added to WFS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | WDR81 | Louise Daugherty Source Wessex and West Midlands GLH was added to WDR81. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | WDR73 | Louise Daugherty Source Wessex and West Midlands GLH was added to WDR73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | VRK1 | Louise Daugherty Source Wessex and West Midlands GLH was added to VRK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | VPS53 | Louise Daugherty Source Wessex and West Midlands GLH was added to VPS53. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | VPS13D | Louise Daugherty Source Wessex and West Midlands GLH was added to VPS13D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | VLDLR | Louise Daugherty Source Wessex and West Midlands GLH was added to VLDLR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | VAMP1 | Louise Daugherty Source Wessex and West Midlands GLH was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | UCHL1 | Louise Daugherty Source Wessex and West Midlands GLH was added to UCHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | UBR4 | Louise Daugherty Source Wessex and West Midlands GLH was added to UBR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | UBA5 |
Louise Daugherty gene: UBA5 was added gene: UBA5 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: UBA5 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TWNK | Louise Daugherty Source Wessex and West Midlands GLH was added to TWNK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TUBB4A | Louise Daugherty Source Wessex and West Midlands GLH was added to TUBB4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TUBB3 |
Louise Daugherty gene: TUBB3 was added gene: TUBB3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBB3 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TUBB2B |
Louise Daugherty gene: TUBB2B was added gene: TUBB2B was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBB2B was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TUBB2A |
Louise Daugherty gene: TUBB2A was added gene: TUBB2A was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBB2A was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TUBB |
Louise Daugherty gene: TUBB was added gene: TUBB was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBB was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TUBA8 |
Louise Daugherty gene: TUBA8 was added gene: TUBA8 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBA8 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TUBA1A |
Louise Daugherty gene: TUBA1A was added gene: TUBA1A was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBA1A was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TTPA | Louise Daugherty Source Wessex and West Midlands GLH was added to TTPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TTC19 | Louise Daugherty Source Wessex and West Midlands GLH was added to TTC19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TTBK2 | Louise Daugherty Source Wessex and West Midlands GLH was added to TTBK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TSEN54 | Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TSEN34 | Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TSEN2 | Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TSEN15 |
Louise Daugherty gene: TSEN15 was added gene: TSEN15 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TSEN15 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TPP1 | Louise Daugherty Source Wessex and West Midlands GLH was added to TPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TOE1 |
Louise Daugherty gene: TOE1 was added gene: TOE1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TOE1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TMEM240 | Louise Daugherty Source Wessex and West Midlands GLH was added to TMEM240. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TMEM106B |
Louise Daugherty gene: TMEM106B was added gene: TMEM106B was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TMEM106B was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TINF2 |
Louise Daugherty gene: TINF2 was added gene: TINF2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TINF2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | THG1L |
Louise Daugherty gene: THG1L was added gene: THG1L was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: THG1L was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TGM6 | Louise Daugherty Source Wessex and West Midlands GLH was added to TGM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TERT |
Louise Daugherty gene: TERT was added gene: TERT was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TERT was set to |
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Hereditary ataxia with onset in adulthood v1.1 | TDP1 | Louise Daugherty Source Wessex and West Midlands GLH was added to TDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TBC1D23 |
Louise Daugherty gene: TBC1D23 was added gene: TBC1D23 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TBC1D23 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SYT14 | Louise Daugherty Source Wessex and West Midlands GLH was added to SYT14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SYNGAP1 |
Louise Daugherty gene: SYNGAP1 was added gene: SYNGAP1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SYNGAP1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SYNE1 | Louise Daugherty Source Wessex and West Midlands GLH was added to SYNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | STUB1 | Louise Daugherty Source Wessex and West Midlands GLH was added to STUB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SRD5A3 | Louise Daugherty Source Wessex and West Midlands GLH was added to SRD5A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SQSTM1 |
Louise Daugherty gene: SQSTM1 was added gene: SQSTM1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SQSTM1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SPTBN2 | Louise Daugherty Source Wessex and West Midlands GLH was added to SPTBN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SPR | Louise Daugherty Source Wessex and West Midlands GLH was added to SPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SPG7 | Louise Daugherty Source Wessex and West Midlands GLH was added to SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SNX14 | Louise Daugherty Source Wessex and West Midlands GLH was added to SNX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SMPD4 |
Louise Daugherty gene: SMPD4 was added gene: SMPD4 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SMPD4 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SLC9A1 |
Louise Daugherty gene: SLC9A1 was added gene: SLC9A1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC9A1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SLC6A5 | Louise Daugherty Source Wessex and West Midlands GLH was added to SLC6A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SLC52A2 |
Louise Daugherty gene: SLC52A2 was added gene: SLC52A2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC52A2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SLC39A8 |
Louise Daugherty gene: SLC39A8 was added gene: SLC39A8 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC39A8 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SLC2A1 | Louise Daugherty Source Wessex and West Midlands GLH was added to SLC2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SLC25A46 |
Louise Daugherty gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC25A46 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SLC25A32 |
Louise Daugherty gene: SLC25A32 was added gene: SLC25A32 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC25A32 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SLC1A3 | Louise Daugherty Source Wessex and West Midlands GLH was added to SLC1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SIL1 | Louise Daugherty Source Wessex and West Midlands GLH was added to SIL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SETX | Louise Daugherty Source Wessex and West Midlands GLH was added to SETX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SEPSECS | Louise Daugherty Source Wessex and West Midlands GLH was added to SEPSECS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SCYL1 |
Louise Daugherty gene: SCYL1 was added gene: SCYL1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SCYL1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SCN9A | Louise Daugherty Source Wessex and West Midlands GLH was added to SCN9A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SCN8A | Louise Daugherty Source Wessex and West Midlands GLH was added to SCN8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SCN1A | Louise Daugherty Source Wessex and West Midlands GLH was added to SCN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SAR1B | Louise Daugherty Source Wessex and West Midlands GLH was added to SAR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | SAMD9L |
Louise Daugherty gene: SAMD9L was added gene: SAMD9L was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SAMD9L was set to |
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Hereditary ataxia with onset in adulthood v1.1 | SACS | Louise Daugherty Source Wessex and West Midlands GLH was added to SACS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | RUBCN | Louise Daugherty Source Wessex and West Midlands GLH was added to RUBCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | RORA |
Louise Daugherty gene: RORA was added gene: RORA was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RORA was set to |
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Hereditary ataxia with onset in adulthood v1.1 | ROBO3 |
Louise Daugherty gene: ROBO3 was added gene: ROBO3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ROBO3 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | RNF216 | Louise Daugherty Source Wessex and West Midlands GLH was added to RNF216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | RNF170 | Louise Daugherty Source Wessex and West Midlands GLH was added to RNF170. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | RELN | Louise Daugherty Source Wessex and West Midlands GLH was added to RELN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | RARS2 | Louise Daugherty Source Wessex and West Midlands GLH was added to RARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PUM1 |
Louise Daugherty gene: PUM1 was added gene: PUM1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PUM1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | PTRH2 |
Louise Daugherty gene: PTRH2 was added gene: PTRH2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PTRH2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | PRRT2 | Louise Daugherty Source Wessex and West Midlands GLH was added to PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PRNP | Louise Daugherty Source Wessex and West Midlands GLH was added to PRNP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PRKCG | Louise Daugherty Source Wessex and West Midlands GLH was added to PRKCG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PRICKLE1 | Louise Daugherty Source Wessex and West Midlands GLH was added to PRICKLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | POLR3A | Louise Daugherty Source Wessex and West Midlands GLH was added to POLR3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | POLG2 |
Louise Daugherty gene: POLG2 was added gene: POLG2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: POLG2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | POLG | Louise Daugherty Source Wessex and West Midlands GLH was added to POLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PNPLA6 | Louise Daugherty Source Wessex and West Midlands GLH was added to PNPLA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PNKP | Louise Daugherty Source Wessex and West Midlands GLH was added to PNKP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PNKD | Louise Daugherty Source Wessex and West Midlands GLH was added to PNKD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PMPCB |
Louise Daugherty gene: PMPCB was added gene: PMPCB was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PMPCB was set to |
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Hereditary ataxia with onset in adulthood v1.1 | PMPCA | Louise Daugherty Source Wessex and West Midlands GLH was added to PMPCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PLA2G6 | Louise Daugherty Source Wessex and West Midlands GLH was added to PLA2G6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PIK3R5 | Louise Daugherty Source Wessex and West Midlands GLH was added to PIK3R5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PI4KA |
Louise Daugherty gene: PI4KA was added gene: PI4KA was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PI4KA was set to |
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Hereditary ataxia with onset in adulthood v1.1 | PEX6 |
Louise Daugherty gene: PEX6 was added gene: PEX6 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PEX6 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | PEX16 | Louise Daugherty Source Wessex and West Midlands GLH was added to PEX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PDYN | Louise Daugherty Source Wessex and West Midlands GLH was added to PDYN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PCLO | Louise Daugherty Source Wessex and West Midlands GLH was added to PCLO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PAX6 | Louise Daugherty Source Wessex and West Midlands GLH was added to PAX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PAX2 | Louise Daugherty Source Wessex and West Midlands GLH was added to PAX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PACS2 |
Louise Daugherty gene: PACS2 was added gene: PACS2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PACS2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | OPHN1 | Louise Daugherty Source Wessex and West Midlands GLH was added to OPHN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | OPA3 | Louise Daugherty Source Wessex and West Midlands GLH was added to OPA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | OPA1 |
Louise Daugherty gene: OPA1 was added gene: OPA1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: OPA1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | NPC2 | Louise Daugherty Source Wessex and West Midlands GLH was added to NPC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | NPC1 | Louise Daugherty Source Wessex and West Midlands GLH was added to NPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | NKX6-2 | Louise Daugherty Source Wessex and West Midlands GLH was added to NKX6-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | NKX2-1 | Louise Daugherty Source Wessex and West Midlands GLH was added to NKX2-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | NHLRC1 | Louise Daugherty Source Wessex and West Midlands GLH was added to NHLRC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | NAGLU | Louise Daugherty Source Wessex and West Midlands GLH was added to NAGLU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | MTTP | Louise Daugherty Source Wessex and West Midlands GLH was added to MTTP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | MTPAP | Louise Daugherty Source Wessex and West Midlands GLH was added to MTPAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | MT-ATP6 | Louise Daugherty Source Wessex and West Midlands GLH was added to MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | MSTO1 |
Louise Daugherty gene: MSTO1 was added gene: MSTO1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MSTO1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | MRE11 | Louise Daugherty Source Wessex and West Midlands GLH was added to MRE11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | MORC2 |
Louise Daugherty gene: MORC2 was added gene: MORC2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MORC2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | MME |
Louise Daugherty gene: MME was added gene: MME was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MME was set to |
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Hereditary ataxia with onset in adulthood v1.1 | MMACHC | Louise Daugherty Source Wessex and West Midlands GLH was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | MFN2 |
Louise Daugherty gene: MFN2 was added gene: MFN2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MFN2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | MARS2 | Louise Daugherty Source Wessex and West Midlands GLH was added to MARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | MAPK8IP3 |
Louise Daugherty gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MAPK8IP3 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | LNPK |
Louise Daugherty gene: LNPK was added gene: LNPK was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LNPK was set to |
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Hereditary ataxia with onset in adulthood v1.1 | KIF1C | Louise Daugherty Source Wessex and West Midlands GLH was added to KIF1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | KCNQ3 | Louise Daugherty Source Wessex and West Midlands GLH was added to KCNQ3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | KCNQ2 | Louise Daugherty Source Wessex and West Midlands GLH was added to KCNQ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | KCNK18 | Louise Daugherty Source Wessex and West Midlands GLH was added to KCNK18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | KCNJ10 | Louise Daugherty Source Wessex and West Midlands GLH was added to KCNJ10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | KCND3 | Louise Daugherty Source Wessex and West Midlands GLH was added to KCND3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | KCNC3 | Louise Daugherty Source Wessex and West Midlands GLH was added to KCNC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | KCNA2 |
Louise Daugherty gene: KCNA2 was added gene: KCNA2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KCNA2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | KCNA1 | Louise Daugherty Source Wessex and West Midlands GLH was added to KCNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ITPR1 | Louise Daugherty Source Wessex and West Midlands GLH was added to ITPR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | IRF2BPL |
Louise Daugherty gene: IRF2BPL was added gene: IRF2BPL was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: IRF2BPL was set to |
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Hereditary ataxia with onset in adulthood v1.1 | HTT | Louise Daugherty Source Wessex and West Midlands GLH was added to HTT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | HEXB | Louise Daugherty Source Wessex and West Midlands GLH was added to HEXB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | HEXA | Louise Daugherty Source Wessex and West Midlands GLH was added to HEXA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GRM1 | Louise Daugherty Source Wessex and West Midlands GLH was added to GRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GRID2 | Louise Daugherty Source Wessex and West Midlands GLH was added to GRID2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GPAA1 | Louise Daugherty Source Wessex and West Midlands GLH was added to GPAA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GOSR2 | Louise Daugherty Source Wessex and West Midlands GLH was added to GOSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GLRB | Louise Daugherty Source Wessex and West Midlands GLH was added to GLRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GLRA1 | Louise Daugherty Source Wessex and West Midlands GLH was added to GLRA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GLI3 |
Louise Daugherty gene: GLI3 was added gene: GLI3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GLI3 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | GJC2 | Louise Daugherty Source Wessex and West Midlands GLH was added to GJC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GFAP | Louise Daugherty Source Wessex and West Midlands GLH was added to GFAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | GDAP2 |
Louise Daugherty gene: GDAP2 was added gene: GDAP2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GDAP2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | GBA2 | Louise Daugherty Source Wessex and West Midlands GLH was added to GBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | FXN | Louise Daugherty Source Wessex and West Midlands GLH was added to FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | FRMD4A |
Louise Daugherty gene: FRMD4A was added gene: FRMD4A was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FRMD4A was set to |
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Hereditary ataxia with onset in adulthood v1.1 | FOLR1 | Louise Daugherty Source Wessex and West Midlands GLH was added to FOLR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | FMR1 | Louise Daugherty Source Wessex and West Midlands GLH was added to FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | FLVCR1 | Louise Daugherty Source Wessex and West Midlands GLH was added to FLVCR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | FGF14 | Louise Daugherty Source Wessex and West Midlands GLH was added to FGF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | EXOSC9 |
Louise Daugherty gene: EXOSC9 was added gene: EXOSC9 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EXOSC9 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | EXOSC8 |
Louise Daugherty gene: EXOSC8 was added gene: EXOSC8 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EXOSC8 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | EXOSC3 | Louise Daugherty Source Wessex and West Midlands GLH was added to EXOSC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | EPM2A | Louise Daugherty Source Wessex and West Midlands GLH was added to EPM2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ELOVL5 | Louise Daugherty Source Wessex and West Midlands GLH was added to ELOVL5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ELOVL4 | Louise Daugherty Source Wessex and West Midlands GLH was added to ELOVL4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | EIF2B5 | Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | EIF2B4 | Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | EIF2B3 | Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | EIF2B2 | Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | EIF2B1 | Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | EBF3 |
Louise Daugherty gene: EBF3 was added gene: EBF3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EBF3 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | DYNC1H1 | Louise Daugherty Source Wessex and West Midlands GLH was added to DYNC1H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | DNMT1 | Louise Daugherty Source Wessex and West Midlands GLH was added to DNMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | DNAJC5 | Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | DNAJC19 | Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | DMXL2 | Louise Daugherty Source Wessex and West Midlands GLH was added to DMXL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | DDHD2 | Louise Daugherty Source Wessex and West Midlands GLH was added to DDHD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | DCC |
Louise Daugherty gene: DCC was added gene: DCC was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: DCC was set to |
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Hereditary ataxia with onset in adulthood v1.1 | DARS2 | Louise Daugherty Source Wessex and West Midlands GLH was added to DARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | DAB1 | Louise Daugherty Source Wessex and West Midlands GLH was added to DAB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CYP2U1 | Louise Daugherty Source Wessex and West Midlands GLH was added to CYP2U1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CYP27A1 | Louise Daugherty Source Wessex and West Midlands GLH was added to CYP27A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CWF19L1 | Louise Daugherty Source Wessex and West Midlands GLH was added to CWF19L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CSTB | Louise Daugherty Source Wessex and West Midlands GLH was added to CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CP | Louise Daugherty Source Wessex and West Midlands GLH was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | COX20 | Louise Daugherty Source Wessex and West Midlands GLH was added to COX20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | COQ8A | Louise Daugherty Source Wessex and West Midlands GLH was added to COQ8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | COG5 | Louise Daugherty Source Wessex and West Midlands GLH was added to COG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | COASY |
Louise Daugherty gene: COASY was added gene: COASY was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COASY was set to |
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Hereditary ataxia with onset in adulthood v1.1 | COA7 |
Louise Daugherty gene: COA7 was added gene: COA7 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COA7 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | CLP1 | Louise Daugherty Source Wessex and West Midlands GLH was added to CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CLN6 | Louise Daugherty Source Wessex and West Midlands GLH was added to CLN6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CLCN2 | Louise Daugherty Source Wessex and West Midlands GLH was added to CLCN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CHMP1A | Louise Daugherty Source Wessex and West Midlands GLH was added to CHMP1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CDK5 |
Louise Daugherty gene: CDK5 was added gene: CDK5 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CDK5 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | CCDC88C | Louise Daugherty Source Wessex and West Midlands GLH was added to CCDC88C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CASK | Louise Daugherty Source Wessex and West Midlands GLH was added to CASK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CAPN1 |
Louise Daugherty gene: CAPN1 was added gene: CAPN1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CAPN1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | CAMTA1 | Louise Daugherty Source Wessex and West Midlands GLH was added to CAMTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CACNB4 | Louise Daugherty Source Wessex and West Midlands GLH was added to CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CACNA1G | Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CACNA1A | Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CA8 | Louise Daugherty Source Wessex and West Midlands GLH was added to CA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | BRF1 |
Louise Daugherty gene: BRF1 was added gene: BRF1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: BRF1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | BEAN1 | Louise Daugherty Source Wessex and West Midlands GLH was added to BEAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | B4GAT1 |
Louise Daugherty gene: B4GAT1 was added gene: B4GAT1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: B4GAT1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | B3GALNT2 |
Louise Daugherty gene: B3GALNT2 was added gene: B3GALNT2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: B3GALNT2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | ATXN7 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATXN7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATXN3 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATXN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATXN2 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATXN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATXN10 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATXN10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATXN1 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATXN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATP8A2 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATP8A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATP7B | Louise Daugherty Source Wessex and West Midlands GLH was added to ATP7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATP2B3 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATP2B3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATP1A3 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATP1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATP1A2 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATP1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATN1 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATM | Louise Daugherty Source Wessex and West Midlands GLH was added to ATM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ATCAY | Louise Daugherty Source Wessex and West Midlands GLH was added to ATCAY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ARSA | Louise Daugherty Source Wessex and West Midlands GLH was added to ARSA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | APTX | Louise Daugherty Source Wessex and West Midlands GLH was added to APTX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | AP1S2 | Louise Daugherty Source Wessex and West Midlands GLH was added to AP1S2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ANO10 | Louise Daugherty Source Wessex and West Midlands GLH was added to ANO10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | AMPD2 | Louise Daugherty Source Wessex and West Midlands GLH was added to AMPD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | AFG3L2 | Louise Daugherty Source Wessex and West Midlands GLH was added to AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ADPRHL2 |
Louise Daugherty gene: ADPRHL2 was added gene: ADPRHL2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ADPRHL2 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | ADGRG1 |
Louise Daugherty gene: ADGRG1 was added gene: ADGRG1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ADGRG1 was set to |
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Hereditary ataxia with onset in adulthood v1.1 | ADCY5 | Louise Daugherty Source Wessex and West Midlands GLH was added to ADCY5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ABHD12 | Louise Daugherty Source Wessex and West Midlands GLH was added to ABHD12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ABCB7 | Louise Daugherty Source Wessex and West Midlands GLH was added to ABCB7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | AARS | Louise Daugherty Source Wessex and West Midlands GLH was added to AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | AAAS | Louise Daugherty Source Wessex and West Midlands GLH was added to AAAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.82 | AAAS | Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.81 | AP1S2 | Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.80 | CACNA1G | Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 616795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.79 | CAMTA1 | Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.78 | CAMTA1 | Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.77 | 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 with onset in adulthood v0.76 | CHMP1A | Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.75 | 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 with onset in adulthood v0.74 | COQ8A | Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.73 | 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 with onset in adulthood v0.72 | COX20 | Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.71 | CP | Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.70 | CWF19L1 | Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.69 | CYP27A1 | Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.68 | 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 with onset in adulthood v0.67 | EXOSC3 | Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.66 | FOLR1 | Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.65 | GBA2 | Louise Daugherty Publications for gene: GBA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.64 | GBA2 | Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.63 | GLRA1 | Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.62 | GLRB | Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.61 | 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 with onset in adulthood v0.60 | HEXA | Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.59 | HEXB | Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.58 | MMACHC | Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.57 | 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 with onset in adulthood v0.56 | SIL1 | Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.55 | SLC6A5 | Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.54 | SLC9A6 | Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.53 | SRD5A3 | Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.52 | TGM6 | Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.51 | TMEM240 | Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.50 | TPP1 | Louise Daugherty Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipfuscinosis 7 (204500); Autosomal recessive spinocerebellar ataxia 7 (#607998) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.49 | TSEN2 | Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.48 | 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 with onset in adulthood v0.47 | 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 with onset in adulthood v0.46 | 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 with onset in adulthood v0.45 | TTC19 | Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Nuclear type mitochondrial complex III deficiency, 615157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.44 | 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 with onset in adulthood v0.43 | 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 with onset in adulthood v0.43 | TUBB4A | Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.42 | TWNK | Louise Daugherty Phenotypes for gene: TWNK were changed from 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 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 with onset in adulthood v0.41 | TWNK | Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) 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 with onset in adulthood v0.40 | 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 with onset in adulthood v0.39 | VPS13D | Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.38 | VRK1 | Louise Daugherty Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia 1A (#607596) to Pontocerebellar hypoplasia 1A, 607596 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.37 | 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 with onset in adulthood v0.36 | WFS1 | Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.35 | 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 with onset in adulthood v0.34 | TBP_CAG | Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.34 | TBP_CAG | Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.33 | TBP_CAG | Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.33 | TBP_CAG | Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.32 | TBP_CAG |
Louise Daugherty STR: TBP_CAG was added STR: TBP_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: TBP_CAG. Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: TBP_CAG were set to 20301611 Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.31 | PPP2R2B_CAG | Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.31 | PPP2R2B_CAG | Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.30 | PPP2R2B_CAG |
Louise Daugherty STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: PPP2R2B_CAG. Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: PPP2R2B_CAG were set to 20301381 Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.29 | NOP56_GGCCTG | Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.29 | NOP56_GGCCTG | Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.28 | NOP56_GGCCTG |
Louise Daugherty STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: NOP56_GGCCTG. Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153 Review for STR: NOP56_GGCCTG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.27 | HTT_CAG | Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.27 | HTT_CAG | Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.26 | HTT_CAG |
Louise Daugherty STR: HTT_CAG was added STR: HTT_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: HTT_CAG. Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.25 | FXN_GAA | Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.25 | FXN_GAA | Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.24 | FXN_GAA |
Louise Daugherty STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300 Review for STR: FXN_GAA was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.23 | CSTB_CCCCGCCCCGCG | Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.23 | CSTB_CCCCGCCCCGCG | Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.22 | CSTB_CCCCGCCCCGCG |
Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: CSTB_CCCCGCCCCGCG. Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.21 | CACNA1A_CAG | Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.21 | CACNA1A_CAG | Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.20 | CACNA1A_CAG |
Louise Daugherty STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: CACNA1A_CAG. Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086 Review for STR: CACNA1A_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.19 | ATXN7_CAG | Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.19 | ATXN7_CAG | Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.18 | ATXN7_CAG |
Louise Daugherty STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500 Review for STR: ATXN7_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.17 | ATXN3_CAG | Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.17 | ATXN3_CAG | Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.16 | ATXN3_CAG |
Louise Daugherty STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150 Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.15 | ATXN2_CAG | Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.15 | ATXN2_CAG | Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.14 | ATXN2_CAG |
Louise Daugherty STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090 Review for STR: ATXN2_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.13 | ATXN10_ATTCT | Louise Daugherty Classified STR: ATXN10_ATTCT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.13 | ATXN10_ATTCT | Louise Daugherty Str: atxn10_attct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.12 | ATXN10_ATTCT |
Louise Daugherty STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN10_ATTCT. Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN10_ATTCT were set to 12164725 Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516 Review for STR: ATXN10_ATTCT was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.11 | ATN1_CAG | Louise Daugherty Publications for STR: ATN1_CAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.11 | ATN1_CAG | Louise Daugherty Publications for STR: ATN1_CAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.10 | ATXN1_CAG | Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.10 | ATXN1_CAG | Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.9 | ATXN1_CAG |
Louise Daugherty STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.8 | ATN1_CAG | Louise Daugherty Phenotypes for STR: ATN1_CAG were changed from entatorubro-pallidoluysian atrophy 125370 to Dentatorubro-pallidoluysian atrophy 125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.7 | ATN1_CAG | Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.7 | ATN1_CAG | Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.6 | ATN1_CAG |
Louise Daugherty STR: ATN1_CAG was added STR: ATN1_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATN1_CAG. Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATN1_CAG were set to entatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148, Brain channelopathy 1.46 Sources: Expert list |
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Hereditary ataxia with onset in adulthood v0.5 | HTT |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: HTT. Tag currently-ngs-unreportable tag was added to gene: HTT. |
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Hereditary ataxia with onset in adulthood v0.5 | SLC2A1 | Eleanor Williams Tag treatable tag was added to gene: SLC2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | PRRT2 | Eleanor Williams Tag treatable tag was added to gene: PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | KCNA1 | Eleanor Williams Tag treatable tag was added to gene: KCNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | CACNB4 | Eleanor Williams Tag treatable tag was added to gene: CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | CACNA1A | Eleanor Williams Tag treatable tag was added to gene: CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | ATP7B | Eleanor Williams Tag treatable tag was added to gene: ATP7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | ATP1A3 | Eleanor Williams Tag treatable tag was added to gene: ATP1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | ATP1A2 | Eleanor Williams Tag treatable tag was added to gene: ATP1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | TBP |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: TBP. Tag currently-ngs-unreportable tag was added to gene: TBP. |
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Hereditary ataxia with onset in adulthood v0.5 | PPP2R2B |
Eleanor Williams Tag watchlist tag was added to gene: PPP2R2B. Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B. Tag currently-ngs-unreportable tag was added to gene: PPP2R2B. |
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Hereditary ataxia with onset in adulthood v0.5 | NOP56 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: NOP56. Tag currently-ngs-unreportable tag was added to gene: NOP56. |
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Hereditary ataxia with onset in adulthood v0.5 | DAB1 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: DAB1. Tag founder-effect tag was added to gene: DAB1. Tag currently-ngs-unreportable tag was added to gene: DAB1. |
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Hereditary ataxia with onset in adulthood v0.5 | BEAN1 | Eleanor Williams Tag structural-variant tag was added to gene: BEAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | BEAN1 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: BEAN1. Tag currently-ngs-unreportable tag was added to gene: BEAN1. |
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Hereditary ataxia with onset in adulthood v0.5 | ATXN8 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN8. Tag currently-ngs-unreportable tag was added to gene: ATXN8. |
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Hereditary ataxia with onset in adulthood v0.5 | ATXN7 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN7. Tag currently-ngs-unreportable tag was added to gene: ATXN7. |
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Hereditary ataxia with onset in adulthood v0.5 | ATXN3 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN3. Tag currently-ngs-unreportable tag was added to gene: ATXN3. |
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Hereditary ataxia with onset in adulthood v0.5 | ATXN2 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN2. Tag currently-ngs-unreportable tag was added to gene: ATXN2. |
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Hereditary ataxia with onset in adulthood v0.5 | ATXN1 | Eleanor Williams Tag currently-ngs-unreportable tag was added to gene: ATXN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | ATN1 | Eleanor Williams Tag currently-ngs-unreportable tag was added to gene: ATN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | ATXN10 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN10. Tag currently-ngs-unreportable tag was added to gene: ATXN10. |
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Hereditary ataxia with onset in adulthood v0.5 | ATXN1 | Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | ATN1 | Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | VAMP1 | Eleanor Williams Tag watchlist tag was added to gene: VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | SAR1B | Eleanor Williams Tag treatable tag was added to gene: SAR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | MARS2 |
Eleanor Williams Tag cnv tag was added to gene: MARS2. Tag gene-duplication tag was added to gene: MARS2. |
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Hereditary ataxia with onset in adulthood v0.5 | FXN | Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | FMR1 | Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | CACNA1A | Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.4 | Louise Daugherty List of related panels changed from Hereditary ataxia with onset in adulthood; GMS R54 to Hereditary ataxia with onset in adulthood | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.2 | ISCA-37468-Loss |
Eleanor Williams Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621 Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone |
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Hereditary ataxia with onset in adulthood v0.2 | ISCA-37478-Loss |
Eleanor Williams Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105830 |
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Hereditary ataxia with onset in adulthood v0.2 | ISCA-37478-Gain |
Eleanor Williams Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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; 9106540; 16840569 Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome |
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Hereditary ataxia with onset in adulthood v0.2 | ISCA-37404-Loss |
Eleanor Williams Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105831 |
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Hereditary ataxia with onset in adulthood v0.2 | ZNF592 |
Eleanor Williams gene: ZNF592 was added gene: ZNF592 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5 |
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Hereditary ataxia with onset in adulthood v0.2 | ZFYVE26 |
Eleanor Williams gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 25842392; 25497598 Phenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. |
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Hereditary ataxia with onset in adulthood v0.2 | XRCC1 |
Eleanor Williams gene: XRCC1 was added gene: XRCC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 28002403 Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | WWOX |
Eleanor Williams gene: WWOX was added gene: WWOX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12 (#614322) |
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Hereditary ataxia with onset in adulthood v0.2 | WFS1 |
Eleanor Williams gene: WFS1 was added gene: WFS1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | WDR81 |
Eleanor Williams gene: WDR81 was added gene: WDR81 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
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Hereditary ataxia with onset in adulthood v0.2 | WDR73 |
Eleanor Williams gene: WDR73 was added gene: WDR73 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature |
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Hereditary ataxia with onset in adulthood v0.2 | VRK1 |
Eleanor Williams gene: VRK1 was added gene: VRK1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia 1A (#607596) |
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Hereditary ataxia with onset in adulthood v0.2 | VPS53 |
Eleanor Williams gene: VPS53 was added gene: VPS53 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 24577744 Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia 2E (#615851) |
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Hereditary ataxia with onset in adulthood v0.2 | VPS13D |
Eleanor Williams gene: VPS13D was added gene: VPS13D was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13D were set to spastic ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | VLDLR |
Eleanor Williams gene: VLDLR was added gene: VLDLR was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | VAMP1 |
Eleanor Williams gene: VAMP1 was added gene: VAMP1 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600 |
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Hereditary ataxia with onset in adulthood v0.2 | UCHL1 |
Eleanor Williams gene: UCHL1 was added gene: UCHL1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to 23359680 Phenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy |
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Hereditary ataxia with onset in adulthood v0.2 | UBR4 |
Eleanor Williams gene: UBR4 was added gene: UBR4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBR4 were set to 23982692 Phenotypes for gene: UBR4 were set to Episodic ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | TWNK |
Eleanor Williams gene: TWNK was added gene: TWNK was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) |
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Hereditary ataxia with onset in adulthood v0.2 | TUBB4A |
Eleanor Williams gene: TUBB4A was added gene: TUBB4A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to 25497598 Phenotypes for gene: TUBB4A were set to Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | TTPA |
Eleanor Williams gene: TTPA was added gene: TTPA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with Vitamin E Deficiency; Ataxia with isolated vitamin E deficiency |
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Hereditary ataxia with onset in adulthood v0.2 | TTC19 |
Eleanor Williams gene: TTC19 was added gene: TTC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to Nuclear type mitochondrial complex III deficiency (#615157) |
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Hereditary ataxia with onset in adulthood v0.2 | TTBK2 |
Eleanor Williams gene: TTBK2 was added gene: TTBK2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11 |
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Hereditary ataxia with onset in adulthood v0.2 | TSEN54 |
Eleanor Williams gene: TSEN54 was added gene: TSEN54 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) |
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Hereditary ataxia with onset in adulthood v0.2 | TSEN34 |
Eleanor Williams gene: TSEN34 was added gene: TSEN34 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia 2C (612390) |
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Hereditary ataxia with onset in adulthood v0.2 | TSEN2 |
Eleanor Williams gene: TSEN2 was added gene: TSEN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389) |
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Hereditary ataxia with onset in adulthood v0.2 | TPP1 |
Eleanor Williams gene: TPP1 was added gene: TPP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Neuronal ceroid lipfuscinosis 7 (204500); Autosomal recessive spinocerebellar ataxia 7 (#607998) |
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Hereditary ataxia with onset in adulthood v0.2 | TMEM240 |
Eleanor Williams gene: TMEM240 was added gene: TMEM240 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21 (#616101) |
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Hereditary ataxia with onset in adulthood v0.2 | TGM6 |
Eleanor Williams gene: TGM6 was added gene: TGM6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35 |
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Hereditary ataxia with onset in adulthood v0.2 | TDP1 |
Eleanor Williams gene: TDP1 was added gene: TDP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive with axonal neuropathy |
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Hereditary ataxia with onset in adulthood v0.2 | TBP |
Eleanor Williams gene: TBP was added gene: TBP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: TBP was set to Unknown Phenotypes for gene: TBP were set to Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 Mode of pathogenicity for gene: TBP was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | SYT14 |
Eleanor Williams gene: SYT14 was added gene: SYT14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229 |
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Hereditary ataxia with onset in adulthood v0.2 | SYNE1 |
Eleanor Williams gene: SYNE1 was added gene: SYNE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8 |
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Hereditary ataxia with onset in adulthood v0.2 | STUB1 |
Eleanor Williams gene: STUB1 was added gene: STUB1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16 |
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Hereditary ataxia with onset in adulthood v0.2 | SRD5A3 |
Eleanor Williams gene: SRD5A3 was added gene: SRD5A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | SPTBN2 |
Eleanor Williams gene: SPTBN2 was added gene: SPTBN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar ataxia 5; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant) |
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Hereditary ataxia with onset in adulthood v0.2 | SPR |
Eleanor Williams gene: SPR was added gene: SPR was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 |
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Hereditary ataxia with onset in adulthood v0.2 | SPG7 |
Eleanor Williams gene: SPG7 was added gene: SPG7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 25681447 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | SNX14 |
Eleanor Williams gene: SNX14 was added gene: SNX14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354) |
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Hereditary ataxia with onset in adulthood v0.2 | SLC9A6 |
Eleanor Williams gene: SLC9A6 was added gene: SLC9A6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Hereditary ataxia with onset in adulthood v0.2 | SLC6A5 |
Eleanor Williams gene: SLC6A5 was added gene: SLC6A5 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A5 were set to 16751771 Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3 |
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Hereditary ataxia with onset in adulthood v0.2 | SLC2A1 |
Eleanor Williams gene: SLC2A1 was added gene: SLC2A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546 Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1 |
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Hereditary ataxia with onset in adulthood v0.2 | SLC1A3 |
Eleanor Williams gene: SLC1A3 was added gene: SLC1A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306 Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 |
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Hereditary ataxia with onset in adulthood v0.2 | SIL1 |
Eleanor Williams gene: SIL1 was added gene: SIL1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | SETX |
Eleanor Williams gene: SETX was added gene: SETX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2 |
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Hereditary ataxia with onset in adulthood v0.2 | SEPSECS |
Eleanor Williams gene: SEPSECS was added gene: SEPSECS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D (613811) |
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Hereditary ataxia with onset in adulthood v0.2 | SCN9A |
Eleanor Williams gene: SCN9A was added gene: SCN9A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Dysosteosclerosis; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Erythermalgia, primary, 133020; Erythermalgia, Primary |
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Hereditary ataxia with onset in adulthood v0.2 | SCN8A |
Eleanor Williams gene: SCN8A was added gene: SCN8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 26677014 Phenotypes for gene: SCN8A were set to paroxysmal kinesigenic dyskinesias; epilepsy; Cognitive impairment with or without cerebellar ataxia, 614306 |
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Hereditary ataxia with onset in adulthood v0.2 | SCN1A |
Eleanor Williams gene: SCN1A was added gene: SCN1A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to 16054936; 19332696 Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 |
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Hereditary ataxia with onset in adulthood v0.2 | SAR1B |
Eleanor Williams gene: SAR1B was added gene: SAR1B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease 246700 |
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Hereditary ataxia with onset in adulthood v0.2 | SACS |
Eleanor Williams gene: SACS was added gene: SACS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type |
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Hereditary ataxia with onset in adulthood v0.2 | RUBCN |
Eleanor Williams gene: RUBCN was added gene: RUBCN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUBCN were set to 20826435 |
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Hereditary ataxia with onset in adulthood v0.2 | RNF216 |
Eleanor Williams gene: RNF216 was added gene: RNF216 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 |
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Hereditary ataxia with onset in adulthood v0.2 | RNF170 |
Eleanor Williams gene: RNF170 was added gene: RNF170 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant |
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Hereditary ataxia with onset in adulthood v0.2 | RELN |
Eleanor Williams gene: RELN was added gene: RELN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | RARS2 |
Eleanor Williams gene: RARS2 was added gene: RARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia |
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Hereditary ataxia with onset in adulthood v0.2 | PRRT2 |
Eleanor Williams gene: PRRT2 was added gene: PRRT2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141 Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS |
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Hereditary ataxia with onset in adulthood v0.2 | PRNP |
Eleanor Williams gene: PRNP was added gene: PRNP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRNP were set to Gerstmann-Straussler disease; Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Insomnia, fatal familial; Huntington disease-like 1 |
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Hereditary ataxia with onset in adulthood v0.2 | PRKCG |
Eleanor Williams gene: PRKCG was added gene: PRKCG was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14 |
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Hereditary ataxia with onset in adulthood v0.2 | PRICKLE1 |
Eleanor Williams gene: PRICKLE1 was added gene: PRICKLE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | PPP2R2B |
Eleanor Williams gene: PPP2R2B was added gene: PPP2R2B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PPP2R2B was set to Unknown Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326 Mode of pathogenicity for gene: PPP2R2B was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | POLR3A |
Eleanor Williams gene: POLR3A was added gene: POLR3A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 21855841; 25655951 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | POLG |
Eleanor Williams gene: POLG was added gene: POLG was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) |
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Hereditary ataxia with onset in adulthood v0.2 | PNPLA6 |
Eleanor Williams gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Oliver-McFarlane syndrome (#603197) |
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Hereditary ataxia with onset in adulthood v0.2 | PNKP |
Eleanor Williams gene: PNKP was added gene: PNKP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267) |
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Hereditary ataxia with onset in adulthood v0.2 | PNKD |
Eleanor Williams gene: PNKD was added gene: PNKD was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PNKD were set to 15262732; 15496428; 15824259 Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 |
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Hereditary ataxia with onset in adulthood v0.2 | PMPCA |
Eleanor Williams gene: PMPCA was added gene: PMPCA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to 25808372 Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. |
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Hereditary ataxia with onset in adulthood v0.2 | PLA2G6 |
Eleanor Williams gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217) |
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Hereditary ataxia with onset in adulthood v0.2 | PIK3R5 |
Eleanor Williams gene: PIK3R5 was added gene: PIK3R5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3 |
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Hereditary ataxia with onset in adulthood v0.2 | PEX16 |
Eleanor Williams gene: PEX16 was added gene: PEX16 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Zellweger syndrome (614876) |
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Hereditary ataxia with onset in adulthood v0.2 | PDYN |
Eleanor Williams gene: PDYN was added gene: PDYN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23 |
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Hereditary ataxia with onset in adulthood v0.2 | PCLO |
Eleanor Williams gene: PCLO was added gene: PCLO was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCLO were set to 25832664 Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. |
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Hereditary ataxia with onset in adulthood v0.2 | PAX6 |
Eleanor Williams gene: PAX6 was added gene: PAX6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation |
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Hereditary ataxia with onset in adulthood v0.2 | PAX2 |
Eleanor Williams gene: PAX2 was added gene: PAX2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PAX2 was set to Unknown Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2) |
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Hereditary ataxia with onset in adulthood v0.2 | OPHN1 |
Eleanor Williams gene: OPHN1 was added gene: OPHN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Hereditary ataxia with onset in adulthood v0.2 | OPA3 |
Eleanor Williams gene: OPA3 was added gene: OPA3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044 Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome |
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Hereditary ataxia with onset in adulthood v0.2 | NPC2 |
Eleanor Williams gene: NPC2 was added gene: NPC2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625) |
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Hereditary ataxia with onset in adulthood v0.2 | NPC1 |
Eleanor Williams gene: NPC1 was added gene: NPC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220) |
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Hereditary ataxia with onset in adulthood v0.2 | NOP56 |
Eleanor Williams gene: NOP56 was added gene: NOP56 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153 Mode of pathogenicity for gene: NOP56 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | NKX6-2 |
Eleanor Williams gene: NKX6-2 was added gene: NKX6-2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX6-2 were set to 15601927; 28575651 Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 |
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Hereditary ataxia with onset in adulthood v0.2 | NKX2-1 |
Eleanor Williams gene: NKX2-1 was added gene: NKX2-1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 24555207 Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 |
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Hereditary ataxia with onset in adulthood v0.2 | NHLRC1 |
Eleanor Williams gene: NHLRC1 was added gene: NHLRC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC1 were set to 15781812; 12958597 Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780 |
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Hereditary ataxia with onset in adulthood v0.2 | NAGLU |
Eleanor Williams gene: NAGLU was added gene: NAGLU was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 25818867 Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD); Sanfilippo syndrome B (AR) (OMIM #252920) Mode of pathogenicity for gene: NAGLU was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | MVK |
Eleanor Williams gene: MVK was added gene: MVK was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 24896178; 26503795 Phenotypes for gene: MVK were set to Mevalonic aciduria 610377 |
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Hereditary ataxia with onset in adulthood v0.2 | MTTP |
Eleanor Williams gene: MTTP was added gene: MTTP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 |
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Hereditary ataxia with onset in adulthood v0.2 | MTPAP |
Eleanor Williams gene: MTPAP was added gene: MTPAP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4, |
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Hereditary ataxia with onset in adulthood v0.2 | MT-ATP6 |
Eleanor Williams gene: MT-ATP6 was added gene: MT-ATP6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa |
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Hereditary ataxia with onset in adulthood v0.2 | MRE11 |
Eleanor Williams gene: MRE11 was added gene: MRE11 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder |
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Hereditary ataxia with onset in adulthood v0.2 | MMACHC |
Eleanor Williams gene: MMACHC was added gene: MMACHC was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 26283149 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) |
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Hereditary ataxia with onset in adulthood v0.2 | MARS2 |
Eleanor Williams gene: MARS2 was added gene: MARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 22448145 Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive |
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Hereditary ataxia with onset in adulthood v0.2 | KIF1C |
Eleanor Williams gene: KIF1C was added gene: KIF1C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive |
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Hereditary ataxia with onset in adulthood v0.2 | KCNQ3 |
Eleanor Williams gene: KCNQ3 was added gene: KCNQ3 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201 |
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Hereditary ataxia with onset in adulthood v0.2 | KCNQ2 |
Eleanor Williams gene: KCNQ2 was added gene: KCNQ2 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ2 were set to Myokymia, 121200 |
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Hereditary ataxia with onset in adulthood v0.2 | KCNK18 |
Eleanor Williams gene: KCNK18 was added gene: KCNK18 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Brain channelopathy v1.46 Mode of inheritance for gene: KCNK18 was set to Unknown Publications for gene: KCNK18 were set to 20871611; 22355750 Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 |
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Hereditary ataxia with onset in adulthood v0.2 | KCNJ10 |
Eleanor Williams gene: KCNJ10 was added gene: KCNJ10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome |
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Hereditary ataxia with onset in adulthood v0.2 | KCND3 |
Eleanor Williams gene: KCND3 was added gene: KCND3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCND3 were set to Spinocerebellarataxia19, 607346 |
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Hereditary ataxia with onset in adulthood v0.2 | KCNC3 |
Eleanor Williams gene: KCNC3 was added gene: KCNC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13 |
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Hereditary ataxia with onset in adulthood v0.2 | KCNA1 |
Eleanor Williams gene: KCNA1 was added gene: KCNA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNA1 were set to 17575281 Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome; myokymia with periodic ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | ITPR1 |
Eleanor Williams gene: ITPR1 was added gene: ITPR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29 Mode of pathogenicity for gene: ITPR1 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | HTT |
Eleanor Williams gene: HTT was added gene: HTT was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HTT were set to Huntington disease 143100 Mode of pathogenicity for gene: HTT was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | HEXB |
Eleanor Williams gene: HEXB was added gene: HEXB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | HEXA |
Eleanor Williams gene: HEXA was added gene: HEXA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | GRM1 |
Eleanor Williams gene: GRM1 was added gene: GRM1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13 |
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Hereditary ataxia with onset in adulthood v0.2 | GRID2 |
Eleanor Williams gene: GRID2 was added gene: GRID2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRID2 were set to 25841024 Phenotypes for gene: GRID2 were set to Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. |
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Hereditary ataxia with onset in adulthood v0.2 | GPAA1 |
Eleanor Williams gene: GPAA1 was added gene: GPAA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPAA1 were set to 29100095; 24896178 Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 |
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Hereditary ataxia with onset in adulthood v0.2 | GOSR2 |
Eleanor Williams gene: GOSR2 was added gene: GOSR2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOSR2 were set to 24285620; 20301317; 21549339 Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 |
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Hereditary ataxia with onset in adulthood v0.2 | GLRB |
Eleanor Williams gene: GLRB was added gene: GLRB was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRB were set to 23238346; 11929858; 21391991 Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2 |
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Hereditary ataxia with onset in adulthood v0.2 | GLRA1 |
Eleanor Williams gene: GLRA1 was added gene: GLRA1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 20301437 Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1 |
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Hereditary ataxia with onset in adulthood v0.2 | GJC2 |
Eleanor Williams gene: GJC2 was added gene: GJC2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | GFAP |
Eleanor Williams gene: GFAP was added gene: GFAP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GFAP were set to Alexander disease; Autosomal Dominant Ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | GBA2 |
Eleanor Williams gene: GBA2 was added gene: GBA2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | FXN |
Eleanor Williams gene: FXN was added gene: FXN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreichataxia, 229300; Friedreich ataxia with retained reflexes,229300 |
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Hereditary ataxia with onset in adulthood v0.2 | FOLR1 |
Eleanor Williams gene: FOLR1 was added gene: FOLR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | FMR1 |
Eleanor Williams gene: FMR1 was added gene: FMR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI) |
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Hereditary ataxia with onset in adulthood v0.2 | FLVCR1 |
Eleanor Williams gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa, |
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Hereditary ataxia with onset in adulthood v0.2 | FGF14 |
Eleanor Williams gene: FGF14 was added gene: FGF14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27 |
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Hereditary ataxia with onset in adulthood v0.2 | EXOSC3 |
Eleanor Williams gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | EPM2A |
Eleanor Williams gene: EPM2A was added gene: EPM2A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308; 14722920; 10932264 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
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Hereditary ataxia with onset in adulthood v0.2 | ELOVL5 |
Eleanor Williams gene: ELOVL5 was added gene: ELOVL5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 615957 Mode of pathogenicity for gene: ELOVL5 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ELOVL4 |
Eleanor Williams gene: ELOVL4 was added gene: ELOVL4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELOVL4 were set to 24566826; 26010696 Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190 |
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Hereditary ataxia with onset in adulthood v0.2 | EIF2B5 |
Eleanor Williams gene: EIF2B5 was added gene: EIF2B5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B5 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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Hereditary ataxia with onset in adulthood v0.2 | EIF2B4 |
Eleanor Williams gene: EIF2B4 was added gene: EIF2B4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B4 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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Hereditary ataxia with onset in adulthood v0.2 | EIF2B3 |
Eleanor Williams gene: EIF2B3 was added gene: EIF2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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Hereditary ataxia with onset in adulthood v0.2 | EIF2B2 |
Eleanor Williams gene: EIF2B2 was added gene: EIF2B2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B2 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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Hereditary ataxia with onset in adulthood v0.2 | EIF2B1 |
Eleanor Williams gene: EIF2B1 was added gene: EIF2B1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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Hereditary ataxia with onset in adulthood v0.2 | DYNC1H1 |
Eleanor Williams gene: DYNC1H1 was added gene: DYNC1H1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability |
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Hereditary ataxia with onset in adulthood v0.2 | DNMT1 |
Eleanor Williams gene: DNMT1 was added gene: DNMT1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, |
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Hereditary ataxia with onset in adulthood v0.2 | DNAJC5 |
Eleanor Williams gene: DNAJC5 was added gene: DNAJC5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 27604308; 21820099 Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 |
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Hereditary ataxia with onset in adulthood v0.2 | DNAJC19 |
Eleanor Williams gene: DNAJC19 was added gene: DNAJC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 27604308; 16055927; 27426421; 22797137; 27928778 Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria, type V 610198 |
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Hereditary ataxia with onset in adulthood v0.2 | DMXL2 |
Eleanor Williams gene: DMXL2 was added gene: DMXL2 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098 Phenotypes for gene: DMXL2 were set to ORPHA90636; OMIM:612186; Sensorineural Hearing Loss |
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Hereditary ataxia with onset in adulthood v0.2 | DDHD2 |
Eleanor Williams gene: DDHD2 was added gene: DDHD2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. |
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Hereditary ataxia with onset in adulthood v0.2 | DARS2 |
Eleanor Williams gene: DARS2 was added gene: DARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | DAB1 |
Eleanor Williams gene: DAB1 was added gene: DAB1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAB1 were set to 28686858 Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 615945 Mode of pathogenicity for gene: DAB1 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | CYP2U1 |
Eleanor Williams gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. |
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Hereditary ataxia with onset in adulthood v0.2 | CYP27A1 |
Eleanor Williams gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | CWF19L1 |
Eleanor Williams gene: CWF19L1 was added gene: CWF19L1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | CSTB |
Eleanor Williams gene: CSTB was added gene: CSTB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 |
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Hereditary ataxia with onset in adulthood v0.2 | CP |
Eleanor Williams gene: CP was added gene: CP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Cerebellar ataxia, |
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Hereditary ataxia with onset in adulthood v0.2 | COX20 |
Eleanor Williams gene: COX20 was added gene: COX20 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.2 | COQ8A |
Eleanor Williams gene: COQ8A was added gene: COQ8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type |
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Hereditary ataxia with onset in adulthood v0.2 | COG5 |
Eleanor Williams gene: COG5 was added gene: COG5 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG5 were set to 28960046; 19690088 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type Iii 613612 |
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Hereditary ataxia with onset in adulthood v0.2 | CLP1 |
Eleanor Williams gene: CLP1 was added gene: CLP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803) |
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Hereditary ataxia with onset in adulthood v0.2 | CLN6 |
Eleanor Williams gene: CLN6 was added gene: CLN6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) |
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Hereditary ataxia with onset in adulthood v0.2 | CLCN2 |
Eleanor Williams gene: CLCN2 was added gene: CLCN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLCN2 were set to 23707145; 19191339 Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 |
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Hereditary ataxia with onset in adulthood v0.2 | CHMP1A |
Eleanor Williams gene: CHMP1A was added gene: CHMP1A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961) |
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Hereditary ataxia with onset in adulthood v0.2 | CCDC88C |
Eleanor Williams gene: CCDC88C was added gene: CCDC88C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC88C were set to 25062847 Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia Mode of pathogenicity for gene: CCDC88C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | CASK |
Eleanor Williams gene: CASK was added gene: CASK was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Hereditary ataxia with onset in adulthood v0.2 | CAMTA1 |
Eleanor Williams gene: CAMTA1 was added gene: CAMTA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 |
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Hereditary ataxia with onset in adulthood v0.2 | CACNB4 |
Eleanor Williams gene: CACNB4 was added gene: CACNB4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNB4 were set to 10762541; PMC1378014 Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; Episodic Ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | CACNA1G |
Eleanor Williams gene: CACNA1G was added gene: CACNA1G was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene: CACNA1G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | CACNA1A |
Eleanor Williams gene: CACNA1A was added gene: CACNA1A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 17575281; 21734179 Phenotypes for gene: CACNA1A were set to Spinocerebellar ataxia 6; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Episodic ataxia, type 2; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | CA8 |
Eleanor Williams gene: CA8 was added gene: CA8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 |
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Hereditary ataxia with onset in adulthood v0.2 | BEAN1 |
Eleanor Williams gene: BEAN1 was added gene: BEAN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BEAN1 were set to 19878914 Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210 |
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Hereditary ataxia with onset in adulthood v0.2 | ATXN8 |
Eleanor Williams gene: ATXN8 was added gene: ATXN8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN8 were set to 10192387 Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 608768 Mode of pathogenicity for gene: ATXN8 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ATXN7 |
Eleanor Williams gene: ATXN7 was added gene: ATXN7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN7 was set to Unknown Phenotypes for gene: ATXN7 were set to Spinocerebellarataxia 7,164500 Mode of pathogenicity for gene: ATXN7 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ATXN3 |
Eleanor Williams gene: ATXN3 was added gene: ATXN3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN3 was set to Unknown Mode of pathogenicity for gene: ATXN3 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ATXN2 |
Eleanor Williams gene: ATXN2 was added gene: ATXN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN2 was set to Unknown Phenotypes for gene: ATXN2 were set to {Amyotrophiclateralsclerosis,susceptibilityto,13},183090; Spinocerebellarataxia2, 183090 Mode of pathogenicity for gene: ATXN2 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ATXN10 |
Eleanor Williams gene: ATXN10 was added gene: ATXN10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN10 was set to Unknown Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10, 603516 Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ATXN1 |
Eleanor Williams gene: ATXN1 was added gene: ATXN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN1 was set to Unknown Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400 Mode of pathogenicity for gene: ATXN1 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ATP8A2 |
Eleanor Williams gene: ATP8A2 was added gene: ATP8A2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528 |
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Hereditary ataxia with onset in adulthood v0.2 | ATP7B |
Eleanor Williams gene: ATP7B was added gene: ATP7B was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 20301685 Phenotypes for gene: ATP7B were set to Wilson disease 277900 |
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Hereditary ataxia with onset in adulthood v0.2 | ATP2B3 |
Eleanor Williams gene: ATP2B3 was added gene: ATP2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATP2B3 was set to Unknown Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1 |
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Hereditary ataxia with onset in adulthood v0.2 | ATP1A3 |
Eleanor Williams gene: ATP1A3 was added gene: ATP1A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to 22842232; 22850527 Phenotypes for gene: ATP1A3 were set to Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) |
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Hereditary ataxia with onset in adulthood v0.2 | ATP1A2 |
Eleanor Williams gene: ATP1A2 was added gene: ATP1A2 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581 |
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Hereditary ataxia with onset in adulthood v0.2 | ATN1 |
Eleanor Williams gene: ATN1 was added gene: ATN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370 Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ATM |
Eleanor Williams gene: ATM was added gene: ATM was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-Telangiectasia |
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Hereditary ataxia with onset in adulthood v0.2 | ATCAY |
Eleanor Williams gene: ATCAY was added gene: ATCAY was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATCAY were set to Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type |
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Hereditary ataxia with onset in adulthood v0.2 | ARSA |
Eleanor Williams gene: ARSA was added gene: ARSA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (#250100) |
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Hereditary ataxia with onset in adulthood v0.2 | APTX |
Eleanor Williams gene: APTX was added gene: APTX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
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Hereditary ataxia with onset in adulthood v0.2 | AP1S2 |
Eleanor Williams gene: AP1S2 was added gene: AP1S2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Hereditary ataxia with onset in adulthood v0.2 | ANO10 |
Eleanor Williams gene: ANO10 was added gene: ANO10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 |
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Hereditary ataxia with onset in adulthood v0.2 | AMPD2 |
Eleanor Williams gene: AMPD2 was added gene: AMPD2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 24482476 Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809) |
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Hereditary ataxia with onset in adulthood v0.2 | ALAS2 |
Eleanor Williams gene: ALAS2 was added gene: ALAS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Hereditary ataxia with onset in adulthood v0.2 | AFG3L2 |
Eleanor Williams gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia 28 Mode of pathogenicity for gene: AFG3L2 was set to Other - please provide details in the comments |
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Hereditary ataxia with onset in adulthood v0.2 | ADCY5 |
Eleanor Williams gene: ADCY5 was added gene: ADCY5 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADCY5 were set to 11310626; 24700542 Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703 |
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Hereditary ataxia with onset in adulthood v0.2 | ABHD12 |
Eleanor Williams gene: ABHD12 was added gene: ABHD12 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) |
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Hereditary ataxia with onset in adulthood v0.2 | ABCB7 |
Eleanor Williams gene: ABCB7 was added gene: ABCB7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia |
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Hereditary ataxia with onset in adulthood v0.2 | AARS |
Eleanor Williams gene: AARS was added gene: AARS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Hereditary ataxia with onset in adulthood v0.2 | AAAS |
Eleanor Williams gene: AAAS was added gene: AAAS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal |
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Hereditary ataxia with onset in adulthood v0.1 | Ellen McDonagh List of related panels changed from to Hereditary ataxia with onset in adulthood; GMS R54 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.0 |
Ellen McDonagh Added Panel Hereditary ataxia - adult onset Set panel types to: GMS Rare Disease Virtual |