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| Ataxia and cerebellar anomalies - narrow panel v4.37 | SUFU |
Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: SUFU. Tag Q4_22_MOI was removed from gene: SUFU. Tag Q4_22_promote_green was removed from gene: SUFU. Tag Q4_22_expert_review was removed from gene: SUFU. |
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| Ataxia and cerebellar anomalies - narrow panel v4.37 | SUFU | Eleanor Williams reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.36 | SUFU | Achchuthan Shanmugasundram Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.35 | SUFU |
Achchuthan Shanmugasundram Source Expert Review Green was added to SUFU. Source NHS GMS was added to SUFU. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v4.7 | SUFU | Arina Puzriakova Tag Q4_22_expert_review tag was added to gene: SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.15 | SUFU | Arina Puzriakova Entity copied from Neurological ciliopathies v2.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.15 | SUFU |
Arina Puzriakova gene: SUFU was added gene: SUFU was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list,Expert Review Amber watchlist_moi, Q4_22_MOI, Q4_22_promote_green tags were added to gene: SUFU. Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUFU were set to 21289193; 28965847; 33024317; 34675124 Phenotypes for gene: SUFU were set to Joubert syndrome 32, OMIM:617757 |
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