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Osteopetrosis v1.34 | RASGRP2 | Sarah Leigh Tag Q1_24_expert_review tag was added to gene: RASGRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.34 | RASGRP2 | Sarah Leigh reviewed gene: RASGRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.34 | RASGRP2 | Sarah Leigh Tag Q1_24_demote_red tag was added to gene: RASGRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.34 | RASGRP2 | Sarah Leigh Publications for gene: RASGRP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.28 | TGFB1 | Arina Puzriakova Phenotypes for gene: TGFB1 were changed from Camurati-Engelmann disease OMIM:131300 to Camurati-Engelmann disease, OMIM:131300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.27 | RASGRP2 | Zornitza Stark reviewed gene: RASGRP2: Rating: RED; Mode of pathogenicity: None; Publications: 18709451; Phenotypes: Bleeding disorder, platelet-type, 18 - MIM#615888, Osteopetrosis (disease) MONDO:0017198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.27 | CLCN7 | Arina Puzriakova Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4 OMIM:611490; Osteopetrosis, autosomal dominant 2 OMIM:166600 to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.26 | TNFRSF11A | Eleanor Williams Added comment: Comment on phenotypes: Removing Osteolysis, familial expansile OMIM:174810 as a phenotype as it doesn't seem to have a osteopetrosis type element. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.26 | TNFRSF11A | Eleanor Williams Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301 to {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.24 | TYROBP | Eleanor Williams Phenotypes for gene: TYROBP were changed from Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.23 | TNFSF11 | Eleanor Williams Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 259710 to Osteopetrosis, autosomal recessive 2 OMIM:259710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.22 | TNFRSF11A | Eleanor Williams Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile 174810; {Paget disease of bone 2, early-onset} 602080; Osteopetrosis, autosomal recessive 7 612301 to Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.21 | TGFB1 | Eleanor Williams Phenotypes for gene: TGFB1 were changed from Camurati-Engelmann disease 131300 to Camurati-Engelmann disease OMIM:131300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.20 | TCIRG1 | Eleanor Williams Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1 259700 to Osteopetrosis, autosomal recessive 1 OMIM:259700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.19 | SOST | Eleanor Williams Phenotypes for gene: SOST were changed from Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100 to Sclerosteosis 1 OMIM:269500; Craniodiaphyseal dysplasia, autosomal dominant OMIM:122860; Van Buchem disease OMIM:239100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.18 | SNX10 | Eleanor Williams Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 615085 to Osteopetrosis, autosomal recessive 8 OMIM:615085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.17 | RASGRP2 | Eleanor Williams Phenotypes for gene: RASGRP2 were changed from none to osteopetrosis (disease) MONDO:0017198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.16 | RASGRP2 | Eleanor Williams Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to none | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.15 | RASGRP2 | Eleanor Williams Added comment: Comment on phenotypes: Removing phenotype "?Bleeding disorder, platelet-type, 18 615888" as does not appear to be associated with Osteopetrosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.15 | RASGRP2 | Eleanor Williams Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to ?Bleeding disorder, platelet-type, 18 615888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.14 | PTH1R | Eleanor Williams Phenotypes for gene: PTH1R were changed from Chondrodysplasia, Blomstrand type 215045; Metaphyseal chondrodysplasia, Murk Jansen type 156400 to Chondrodysplasia, Blomstrand type OMIM:215045; Metaphyseal chondrodysplasia, Murk Jansen type OMIM:156400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.13 | OSTM1 | Eleanor Williams Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5 259720 to Osteopetrosis, autosomal recessive 5 OMIM:259720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.12 | LRP5 | Eleanor Williams Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal OMIM:144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.11 | LRP5 | Eleanor Williams Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] 601884; van Buchem disease, type 2 607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.10 | LEMD3 | Eleanor Williams Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis 166700; Buschke-Ollendorff syndrome 166700 to Osteopoikilosis with or without melorheostosis OMIM:166700; Buschke-Ollendorff syndrome OMIM:166700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.9 | FERMT3 | Eleanor Williams Phenotypes for gene: FERMT3 were changed from Leukocyte adhesion deficiency, type III 612840 to Leukocyte adhesion deficiency, type III OMIM:612840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.8 | FAM20C | Eleanor Williams Phenotypes for gene: FAM20C were changed from Raine syndrome 259775 to Raine syndrome OMIM:259775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.7 | CTSK | Eleanor Williams Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.6 | CLCN7 | Eleanor Williams Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 to Osteopetrosis, autosomal recessive 4 OMIM:611490; Osteopetrosis, autosomal dominant 2 OMIM:166600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.5 | CA2 | Eleanor Williams Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis OMIM:259730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.4 | ANKH | Eleanor Williams Phenotypes for gene: ANKH were changed from Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 to Chondrocalcinosis 2 OMIM:118600; Craniometaphyseal dysplasia OMIM:123000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.3 | AMER1 | Eleanor Williams Phenotypes for gene: AMER1 were changed from Osteopathia striata with cranial sclerosis 300373 to Osteopathia striata with cranial sclerosis OMIM:300373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.2 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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). |
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Osteopetrosis v0.10 | Sarah Leigh removed gene:IKBKG from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.9 | IKBKG | Sarah Leigh changed review comment from: GMS specialist disease group expert has requested that this gene should be deleted from this panel (email 16/09/2020). This is due to the issue of the presence of a pseudogene.; to: GMS specialist disease group experts has requested that this gene should be deleted from this panel (email 16/09/2020). This is due to the issue of the presence of a pseudogene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.9 | IKBKG | Sarah Leigh commented on gene: IKBKG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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). |
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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). |
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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 v0.7 | TCIRG1 | Sarah Leigh Publications for gene: TCIRG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.6 | Catherine Snow Panel types changed to GMS Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.5 | Catherine Snow Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.4 | Catherine Snow List of related panels changed from to R104.4 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | TYROBP | Eleanor Williams commented on gene: TYROBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | TNFSF11 | Eleanor Williams commented on gene: TNFSF11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | TNFRSF11A | Eleanor Williams commented on gene: TNFRSF11A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | TGFB1 | Eleanor Williams commented on gene: TGFB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | TCIRG1 | Eleanor Williams commented on gene: TCIRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | SOST | Eleanor Williams commented on gene: SOST | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | SNX10 | Eleanor Williams commented on gene: SNX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | RASGRP2 | Eleanor Williams commented on gene: RASGRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | PTH1R | Eleanor Williams commented on gene: PTH1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | PLEKHM1 | Eleanor Williams commented on gene: PLEKHM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | OSTM1 | Eleanor Williams commented on gene: OSTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | LRP5 | Eleanor Williams commented on gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | LEMD3 | Eleanor Williams commented on gene: LEMD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | IKBKG | Eleanor Williams commented on gene: IKBKG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | FERMT3 | Eleanor Williams commented on gene: FERMT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | FAM20C | Eleanor Williams commented on gene: FAM20C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | CTSK | Eleanor Williams commented on gene: CTSK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | CLCN7 | Eleanor Williams commented on gene: CLCN7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | CA2 | Eleanor Williams commented on gene: CA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | ANKH | Eleanor Williams commented on gene: ANKH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | AMER1 | Eleanor Williams commented on gene: AMER1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.1 | TYROBP |
Catherine Snow gene: TYROBP was added gene: TYROBP was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 |
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Osteopetrosis v0.1 | TNFSF11 |
Catherine Snow gene: TNFSF11 was added gene: TNFSF11 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 259710 |
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Osteopetrosis v0.1 | TNFRSF11A |
Catherine Snow gene: TNFRSF11A was added gene: TNFRSF11A was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TNFRSF11A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11A were set to Osteolysis, familial expansile 174810; {Paget disease of bone 2, early-onset} 602080; Osteopetrosis, autosomal recessive 7 612301 |
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Osteopetrosis v0.1 | TGFB1 |
Catherine Snow gene: TGFB1 was added gene: TGFB1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease 131300 |
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Osteopetrosis v0.1 | TCIRG1 |
Catherine Snow gene: TCIRG1 was added gene: TCIRG1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 259700 |
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Osteopetrosis v0.1 | SOST |
Catherine Snow gene: SOST was added gene: SOST was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100 |
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Osteopetrosis v0.1 | SNX10 |
Catherine Snow gene: SNX10 was added gene: SNX10 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 615085 |
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Osteopetrosis v0.1 | RASGRP2 |
Catherine Snow gene: RASGRP2 was added gene: RASGRP2 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RASGRP2 were set to ?Bleeding disorder, platelet-type, 18 615888 |
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Osteopetrosis v0.1 | PTH1R |
Catherine Snow gene: PTH1R was added gene: PTH1R was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type 215045; Metaphyseal chondrodysplasia, Murk Jansen type 156400 |
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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 |
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Osteopetrosis v0.1 | OSTM1 |
Catherine Snow gene: OSTM1 was added gene: OSTM1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 259720 |
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Osteopetrosis v0.1 | LRP5 |
Catherine Snow gene: LRP5 was added gene: LRP5 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] 601884; van Buchem disease, type 2 607636 |
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Osteopetrosis v0.1 | LEMD3 |
Catherine Snow gene: LEMD3 was added gene: LEMD3 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LEMD3 were set to Osteopoikilosis with or without melorheostosis 166700; Buschke-Ollendorff syndrome 166700 |
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Osteopetrosis v0.1 | IKBKG |
Catherine Snow gene: IKBKG was added gene: IKBKG was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1 300291 |
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Osteopetrosis v0.1 | FERMT3 |
Catherine Snow gene: FERMT3 was added gene: FERMT3 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT3 were set to 18709451 Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III 612840 |
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Osteopetrosis v0.1 | FAM20C |
Catherine Snow gene: FAM20C was added gene: FAM20C was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20C were set to Raine syndrome 259775 |
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Osteopetrosis v0.1 | CTSK |
Catherine Snow gene: CTSK was added gene: CTSK was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis 265800 |
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Osteopetrosis v0.1 | CLCN7 |
Catherine Snow gene: CLCN7 was added gene: CLCN7 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 |
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Osteopetrosis v0.1 | CA2 |
Catherine Snow gene: CA2 was added gene: CA2 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 |
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Osteopetrosis v0.1 | ANKH |
Catherine Snow gene: ANKH was added gene: ANKH was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 |
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Osteopetrosis v0.1 | AMER1 |
Catherine Snow gene: AMER1 was added gene: AMER1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: AMER1 were set to Osteopathia striata with cranial sclerosis 300373 |
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Osteopetrosis v0.0 | Catherine Snow Added Panel Osteopetrosis |