Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Osteopetrosis v1.25 | PLEKHM1 | Eleanor Williams Phenotypes for gene: PLEKHM1 were changed from ?Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 618107 to ?Osteopetrosis, autosomal recessive 6 OMIM:611497; Osteopetrosis, autosomal dominant 3 OMIM:618107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.10 | PLEKHM1 |
Sarah Leigh changed review comment from: Comment on list classification: This rating change from Green to Amber has been suggested by the GMS specialist disease group experts (email 16/09/20200). They have not found PLEKHM1 variants in 257 diagnostic and familial cases listed in the OP database. Published reports include three variants in two cases of biallielic osteropetrosis (PMID 17404618;28290981) and three monoallelic variants in three unrelated cases (PMID 17997709;27291868), however, in one of these cases the unaffected mother of the proband also carried the PLEKHM1 variant, possibly raising the issue of penetrance (PMID 21054159). A further variant was also identifed by RNA-seq analysis of Xanthogranulomatous epithelial tumor in a patient with osteopretosis, however, the zygosity of this variant was not reported (PMID 32415263).; to: Comment on list classification: This rating change from Green to Amber has been suggested by the GMS specialist disease group experts (email 16/09/20200). They have not found PLEKHM1 variants in 257 diagnostic and familial cases listed in the OP database. Published reports include three variants in two cases of biallelic osteopetrosis (PMID 17404618;28290981) and three monoallelic variants in three unrelated cases (PMID 17997709;27291868), however, in one of these cases the unaffected mother of the proband also carried the PLEKHM1 variant, possibly raising the issue of penetrance (PMID 21054159). A further variant was also identified by RNA-seq analysis of Xanthogranulomatous epithelial tumour in a patient with osteopetrosis, however, the zygosity of this variant was not reported (PMID 32415263). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.9 | PLEKHM1 | Sarah Leigh Tag watchlist tag was added to gene: PLEKHM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.9 | PLEKHM1 |
Sarah Leigh changed review comment from: Comment on list classification: This rating change from Green to Amber has been suggested by the GMS specialist disease group experts. They have not found PLEKHM1 variants in 257 diagnostic and familial cases listed in the OP database. Published reports include three variants in two cases of biallielic osteropetrosis (PMID 17404618;28290981) and three monoallelic variants in three unrelated cases (PMID 17997709;27291868), however, one of these cases the unaffected mother of the proband also carried the PLEKHM1 variant, possibly raising the issue of penetrance (PMID 21054159). A further variant was also identifed by RNA-seq analysis of Xanthogranulomatous epithelial tumor in a patient with osteopretosis, however, the zygosity was not reported (PMID 32415263).; to: Comment on list classification: This rating change from Green to Amber has been suggested by the GMS specialist disease group experts (email 16/09/20200). They have not found PLEKHM1 variants in 257 diagnostic and familial cases listed in the OP database. Published reports include three variants in two cases of biallielic osteropetrosis (PMID 17404618;28290981) and three monoallelic variants in three unrelated cases (PMID 17997709;27291868), however, in one of these cases the unaffected mother of the proband also carried the PLEKHM1 variant, possibly raising the issue of penetrance (PMID 21054159). A further variant was also identifed by RNA-seq analysis of Xanthogranulomatous epithelial tumor in a patient with osteopretosis, however, the zygosity of this variant was not reported (PMID 32415263). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.9 | PLEKHM1 | Sarah Leigh Classified gene: PLEKHM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.9 | PLEKHM1 |
Sarah Leigh Added comment: Comment on list classification: This rating change from Green to Amber has been suggested by the GMS specialist disease group experts. They have not found PLEKHM1 variants in 257 diagnostic and familial cases listed in the OP database. Published reports include three variants in two cases of biallielic osteropetrosis (PMID 17404618;28290981) and three monoallelic variants in three unrelated cases (PMID 17997709;27291868), however, one of these cases the unaffected mother of the proband also carried the PLEKHM1 variant, possibly raising the issue of penetrance (PMID 21054159). A further variant was also identifed by RNA-seq analysis of Xanthogranulomatous epithelial tumor in a patient with osteopretosis, however, the zygosity was not reported (PMID 32415263). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.9 | PLEKHM1 | Sarah Leigh Gene: plekhm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.8 | PLEKHM1 | Sarah Leigh Publications for gene: PLEKHM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | PLEKHM1 | Eleanor Williams commented on gene: PLEKHM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.1 | PLEKHM1 |
Catherine Snow gene: PLEKHM1 was added gene: PLEKHM1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PLEKHM1 were set to ?Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 618107 |