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| Arthrogryposis v3.154 | MYLPF | Ivone Leong Tag Q2_21_expert_review was removed from gene: MYLPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.154 | MYLPF | Sarah Leigh commented on gene: MYLPF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.74 | MYLPF | Arina Puzriakova Tag watchlist tag was added to gene: MYLPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.74 | MYLPF | Arina Puzriakova edited their review of gene: MYLPF: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.74 | MYLPF | Arina Puzriakova Classified gene: MYLPF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.74 | MYLPF |
Arina Puzriakova Added comment: Comment on list classification: Given there are 6 families and different ethnic backgrounds, the biallelic form technically reaches the threshold for inclusion as Green. However, it should be considered that only the residue Cys157 has been implicated to date and the mechanism of pathogenicity is not clear. Therefore rating Amber awaiting additional cases/functional evidence and further assessment by the GMS expert team to determine the most appropriate rating in view of the current evidence (tagged for 'expert-review') |
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| Arthrogryposis v3.74 | MYLPF | Arina Puzriakova Gene: mylpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.73 | MYLPF | Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: MYLPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.73 | MYLPF | Arina Puzriakova Added comment: Comment on mode of inheritance: Following consultation with Helen Brittain (Genomics England Clinical Team) it was agreed that in view of only 2 families with arthrogryposis and monoallelic variants in this gene there is currently not enough evidence to support inclusion of the monoallelic form. More cases or a delineation of the mechanism of pathogenicity are required before considering adding this as an MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.73 | MYLPF | Arina Puzriakova Mode of inheritance for gene: MYLPF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.72 | MYLPF | Arina Puzriakova reviewed gene: MYLPF: Rating: ; Mode of pathogenicity: None; Publications: 32707087; Phenotypes: Arthrogryposis, distal, type 1C, OMIM:619110, Arthrogryposis, distal, type 1C, MONDO:0030847; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.72 | MYLPF | Arina Puzriakova Tag watchlist was removed from gene: MYLPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.72 | MYLPF | Arina Puzriakova Tag watchlist tag was added to gene: MYLPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.72 | MYLPF | Arina Puzriakova Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Arthrogryposis, distal, type 1C, OMIM:619110; Arthrogryposis, distal, type 1C, MONDO:0030847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.11 | MYLPF |
Zornitza Stark gene: MYLPF was added gene: MYLPF was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to Distal arthrogryoposis Review for gene: MYLPF was set to AMBER Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model. Overall neither MOI data sufficient for Green rating. Sources: Literature |
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