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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 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 v2.143 ADPRHL2 Eleanor Williams Source Expert Review Amber was added to ADPRHL2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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.
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.
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.
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 v2.27 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 v2.9 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 v2.0 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 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 v1.14 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 v1.13 ADPRHL2 Louise Daugherty Source London North GMS was added to ADPRHL2.
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 v1.9 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 v1.8 ADPRHL2 Louise Daugherty reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v1.2 ADPRHL2 Louise Daugherty Source NHS GMS was added to ADPRHL2.
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