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| Optic neuropathy v2.78 | HK1 | Arina Puzriakova Classified gene: HK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.78 | HK1 | Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update. Optic atrophy identified in 5/7 patients reported to date with HK1-related neurodevelopmental disorder (AD inheritance). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.78 | HK1 | Arina Puzriakova Gene: hk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.77 | HK1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Setting to 'monoallelic' as this is the appropriate MOI for this panel (MIM# 618547). Incorrect biallelic MOI was copied from ID panel which will be rectified following GMS approval (Q3_22). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.77 | HK1 | Arina Puzriakova Mode of inheritance for gene: HK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.76 | HK1 |
Arina Puzriakova Tag missense was removed from gene: HK1. Tag Q3_22_MOI was removed from gene: HK1. Tag Q3_22_NHS_review was removed from gene: HK1. Tag Q4_22_promote_green tag was added to gene: HK1. |
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| Optic neuropathy v2.76 | HK1 | Arina Puzriakova Entity copied from Intellectual disability v3.1756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.76 | HK1 |
Arina Puzriakova gene: HK1 was added gene: HK1 was added to Optic neuropathy. Sources: Expert Review Green,BRIDGE study SPEED NEURO Tier1 Gene missense, Q3_22_MOI, Q3_22_NHS_review tags were added to gene: HK1. Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HK1 were set to 30778173; 28135719 Phenotypes for gene: HK1 were set to Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 Penetrance for gene: HK1 were set to Complete Mode of pathogenicity for gene: HK1 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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