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| Childhood onset hereditary spastic paraplegia v5.3 | PPFIBP1 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v5.3 | PPFIBP1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PPFIBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v5.3 | PPFIBP1 | Achchuthan Shanmugasundram commented on gene: PPFIBP1: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v5.2 | PPFIBP1 |
Achchuthan Shanmugasundram Source NHS GMS was added to PPFIBP1. Source Expert Review Green was added to PPFIBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v4.23 | PPFIBP1 |
Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1. Tag Q4_23_promote_green tag was added to gene: PPFIBP1. |
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| Childhood onset hereditary spastic paraplegia v4.23 | PPFIBP1 | Arina Puzriakova Entity copied from Early onset or syndromic epilepsy v4.107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v4.23 | PPFIBP1 |
Arina Puzriakova gene: PPFIBP1 was added gene: PPFIBP1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,Expert Review Amber Q2_23_promote_green tags were added to gene: PPFIBP1. Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPFIBP1 were set to 35830857; 30214071 Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Penetrance for gene: PPFIBP1 were set to Complete |
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