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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).
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).
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 v0.7 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Osteopetrosis v0.0 Catherine Snow Added Panel Osteopetrosis