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Osteopetrosis v0.97 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Osteopetrosis v0.97 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Osteopetrosis v0.97 PTDSS1 Zornitza Stark Marked gene: PTDSS1 as ready
Osteopetrosis v0.97 PTDSS1 Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence).
Osteopetrosis v0.97 MITF Zornitza Stark Marked gene: MITF as ready
Osteopetrosis v0.97 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Osteopetrosis v0.97 LRRK1 Zornitza Stark Marked gene: LRRK1 as ready
Osteopetrosis v0.97 LRRK1 Zornitza Stark Gene: lrrk1 has been classified as Green List (High Evidence).
Osteopetrosis v0.97 Zornitza Stark Copied gene TBXAS1 from panel Mendeliome
Osteopetrosis v0.97 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBXAS1 were set to 18264100; 27156553; 28868793; 33244729; 33595912; 36786374; 39220787; 39277773
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095
Osteopetrosis v0.96 TBCE Zornitza Stark Marked gene: TBCE as ready
Osteopetrosis v0.96 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Osteopetrosis v0.96 TBCE Zornitza Stark Publications for gene: TBCE were set to
Osteopetrosis v0.95 TBCE Zornitza Stark Classified gene: TBCE as Green List (high evidence)
Osteopetrosis v0.95 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Osteopetrosis v0.94 TBCE Zornitza Stark edited their review of gene: TBCE: Changed publications: 26029652, 39911167, 40369764; Changed phenotypes: Kenny-Caffey syndrome, type 1, MIM# 244460
Osteopetrosis v0.94 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Kenny-Caffey syndrome, type 1, MIM# 244460
Review for gene: TBCE was set to GREEN
Added comment: Established gene-disease association. Condition is characterised by short stature, osteosclerosis with medullary stenosis of the long bones, episodic hypocalcemia, and ocular abnormalities.
Sources: Literature
Osteopetrosis v0.93 Zornitza Stark Copied gene PTDSS1 from panel Mendeliome
Osteopetrosis v0.93 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTDSS1 were set to 24241535; 29341480; 31403251
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050
Osteopetrosis v0.92 Zornitza Stark Copied gene MITF from panel Anophthalmia_Microphthalmia_Coloboma
Osteopetrosis v0.92 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MITF were set to 27889061; 32541011
Phenotypes for gene: MITF were set to COMMAD syndrome, MIM# 617306
Osteopetrosis v0.91 Zornitza Stark Copied gene LRRK1 from panel Skeletal dysplasia
Osteopetrosis v0.91 LRRK1 Zornitza Stark gene: LRRK1 was added
gene: LRRK1 was added to Osteopetrosis. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRK1 were set to 27829680; 27055475; 31571209; 32119750
Phenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)
Osteopetrosis v0.90 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Osteopetrosis v0.90 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Osteopetrosis v0.90 LRP4 Zornitza Stark Classified gene: LRP4 as Green List (high evidence)
Osteopetrosis v0.90 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Osteopetrosis v0.89 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP4 were set to 32286743; 35052419; 40824295
Phenotypes for gene: LRP4 were set to Sclerosteosis 2, MIM# 614305
Review for gene: LRP4 was set to GREEN
Added comment: PMIDs 32286743, 35052419 and 40824295 report 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function LRP4 variants causing sclerosteosis (high bone mass, cranial hyperostosis, facial dysmorphism, syndactyly, hearing loss). Functional data include a mouse Lrp4 knock‑in model recapitulating the high bone‑mass phenotype.
Sources: Literature
Osteopetrosis v0.88 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Osteopetrosis v0.88 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Osteopetrosis v0.88 DVL1 Zornitza Stark Classified gene: DVL1 as Green List (high evidence)
Osteopetrosis v0.88 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Osteopetrosis v0.87 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL1 were set to 25817014
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2, MIM# 616331
Review for gene: DVL1 was set to GREEN
Added comment: Well established gene-disease association. Osteosclerosis/high bone mineral density are part of the phenotype.
Sources: Literature
Osteopetrosis v0.85 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Osteopetrosis v0.85 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Osteopetrosis v0.85 AXIN1 Zornitza Stark Marked gene: AXIN1 as ready
Osteopetrosis v0.85 AXIN1 Zornitza Stark Gene: axin1 has been classified as Green List (High Evidence).
Osteopetrosis v0.85 AXIN1 Zornitza Stark Deleted their comment
Osteopetrosis v0.85 Zornitza Stark Copied gene CSF1R from panel Brain Calcification
Osteopetrosis v0.85 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982609; 33749994; 34135456
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Osteopetrosis v0.84 Zornitza Stark Copied gene AXIN1 from panel Mendeliome
Osteopetrosis v0.84 AXIN1 Zornitza Stark gene: AXIN1 was added
gene: AXIN1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to 9335612; 37582359
Phenotypes for gene: AXIN1 were set to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558
Osteopetrosis v0.83 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Osteopetrosis v0.83 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Osteopetrosis v0.83 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Green List (high evidence)
Osteopetrosis v0.83 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Osteopetrosis v0.82 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL2 were set to 36896612
Phenotypes for gene: ADAMTSL2 were set to Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)
Review for gene: ADAMTSL2 was set to GREEN
Added comment: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly.
Sources: Literature
Osteopetrosis v0.79 TYROBP Zornitza Stark Marked gene: TYROBP as ready
Osteopetrosis v0.79 TYROBP Zornitza Stark Gene: tyrobp has been classified as Red List (Low Evidence).
Osteopetrosis v0.79 TYROBP Zornitza Stark Phenotypes for gene: TYROBP were changed from to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749
Osteopetrosis v0.78 TYROBP Zornitza Stark Publications for gene: TYROBP were set to
Osteopetrosis v0.77 TYROBP Zornitza Stark Mode of inheritance for gene: TYROBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.76 TYROBP Zornitza Stark Classified gene: TYROBP as Red List (low evidence)
Osteopetrosis v0.76 TYROBP Zornitza Stark Gene: tyrobp has been classified as Red List (Low Evidence).
Osteopetrosis v0.75 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Osteopetrosis v0.75 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Osteopetrosis v0.75 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7 MIM#612301
Osteopetrosis v0.74 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Osteopetrosis v0.73 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.72 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Osteopetrosis v0.72 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Green List (High Evidence).
Osteopetrosis v0.72 TGFB1 Zornitza Stark Phenotypes for gene: TGFB1 were changed from to Camurati-Engelmann disease MONDO:0007542
Osteopetrosis v0.71 TGFB1 Zornitza Stark Publications for gene: TGFB1 were set to
Osteopetrosis v0.70 TGFB1 Zornitza Stark Mode of inheritance for gene: TGFB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.69 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Osteopetrosis v0.69 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Osteopetrosis v0.69 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1 MIM#259700
Osteopetrosis v0.68 TCIRG1 Zornitza Stark Publications for gene: TCIRG1 were set to
Osteopetrosis v0.67 TCIRG1 Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.66 SOST Zornitza Stark Marked gene: SOST as ready
Osteopetrosis v0.66 SOST Zornitza Stark Gene: sost has been classified as Green List (High Evidence).
Osteopetrosis v0.66 SOST Zornitza Stark Phenotypes for gene: SOST were changed from to sclerosteosis 1 MONDO:0010016
Osteopetrosis v0.65 SOST Zornitza Stark Publications for gene: SOST were set to
Osteopetrosis v0.64 SOST Zornitza Stark Mode of inheritance for gene: SOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.63 SNX10 Zornitza Stark Marked gene: SNX10 as ready
Osteopetrosis v0.63 SNX10 Zornitza Stark Gene: snx10 has been classified as Green List (High Evidence).
Osteopetrosis v0.63 SNX10 Zornitza Stark Phenotypes for gene: SNX10 were changed from to Osteopetrosis, autosomal recessive 8 MIM#615085
Osteopetrosis v0.62 SNX10 Zornitza Stark Publications for gene: SNX10 were set to
Osteopetrosis v0.61 SNX10 Zornitza Stark Mode of inheritance for gene: SNX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.60 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Osteopetrosis v0.60 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Osteopetrosis v0.60 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from to Chondrodysplasia, Blomstrand type, MIM# 215045
Osteopetrosis v0.59 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Osteopetrosis v0.58 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.57 PTH1R Zornitza Stark reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia, Blomstrand type, MIM# 215045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.57 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Osteopetrosis v0.57 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Osteopetrosis v0.57 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from autosomal dominant osteopetrosis 1 MONDO:0011877 to autosomal dominant osteopetrosis 1 MONDO:0011877
Osteopetrosis v0.57 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from to autosomal dominant osteopetrosis 1 MONDO:0011877
Osteopetrosis v0.56 LRP5 Zornitza Stark Publications for gene: LRP5 were set to
Osteopetrosis v0.55 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.54 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Osteopetrosis v0.54 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Osteopetrosis v0.54 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162; incontinentia pigmenti MONDO:0010631
Osteopetrosis v0.53 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Osteopetrosis v0.52 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Osteopetrosis v0.51 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Osteopetrosis v0.51 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
Osteopetrosis v0.51 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Osteopetrosis v0.51 FERMT3 Zornitza Stark Phenotypes for gene: FERMT3 were changed from to leukocyte adhesion deficiency 3 MONDO:0013016
Osteopetrosis v0.50 FERMT3 Zornitza Stark Publications for gene: FERMT3 were set to
Osteopetrosis v0.49 FERMT3 Zornitza Stark Mode of inheritance for gene: FERMT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.48 CTSK Zornitza Stark Marked gene: CTSK as ready
Osteopetrosis v0.48 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Osteopetrosis v0.48 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from to pycnodysostosis MONDO:0009940
Osteopetrosis v0.47 CTSK Zornitza Stark Publications for gene: CTSK were set to
Osteopetrosis v0.46 CTSK Zornitza Stark Mode of inheritance for gene: CTSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.45 ANKH Zornitza Stark Marked gene: ANKH as ready
Osteopetrosis v0.45 ANKH Zornitza Stark Gene: ankh has been classified as Green List (High Evidence).
Osteopetrosis v0.45 ANKH Zornitza Stark Phenotypes for gene: ANKH were changed from to craniometaphyseal dysplasia MONDO:0015465
Osteopetrosis v0.44 ANKH Zornitza Stark Publications for gene: ANKH were set to
Osteopetrosis v0.43 ANKH Zornitza Stark Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.42 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Osteopetrosis v0.42 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Osteopetrosis v0.42 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, MIM# 300373; MONDO:0010310
Osteopetrosis v0.41 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Osteopetrosis v0.40 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Osteopetrosis v0.39 Zornitza Stark Added reviews for gene AMER1 from panel Mendeliome
Osteopetrosis v0.38 BORCS5 Zornitza Stark Marked gene: BORCS5 as ready
Osteopetrosis v0.38 BORCS5 Zornitza Stark Gene: borcs5 has been classified as Red List (Low Evidence).
Osteopetrosis v0.38 BORCS5 Zornitza Stark Publications for gene: BORCS5 were set to 40621786; 7577667
Osteopetrosis v0.37 BORCS5 Zornitza Stark edited their review of gene: BORCS5: Changed publications: 40621786, 7577667, 40385417
Osteopetrosis v0.37 BORCS5 Zornitza Stark gene: BORCS5 was added
gene: BORCS5 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 40621786; 7577667
Phenotypes for gene: BORCS5 were set to Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329)
Review for gene: BORCS5 was set to RED
Added comment: Disease entity originally described in 1995 but genetic basis unknown. Report of consanguineous family with two affected fetuses, homozygous for same missense variant, p. Arg301His.

However, note preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.

homozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction.
Sources: Literature
Osteopetrosis v0.36 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital
Osteopetrosis v0.35 SGMS2 Chirag Patel Classified gene: SGMS2 as Red List (low evidence)
Osteopetrosis v0.35 SGMS2 Chirag Patel Gene: sgms2 has been classified as Red List (Low Evidence).
Osteopetrosis v0.35 SGMS2 Chirag Patel Classified gene: SGMS2 as Red List (low evidence)
Osteopetrosis v0.35 SGMS2 Chirag Patel Gene: sgms2 has been classified as Red List (Low Evidence).
Osteopetrosis v0.34 SGMS2 Chirag Patel reviewed gene: SGMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Osteopetrosis v0.34 TYROBP Sangavi Sivagnanasundram reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: None; Publications: 20301376, 25547154; Phenotypes: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.34 TGFB1 Sangavi Sivagnanasundram reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301335, 30034812, 39014191; Phenotypes: Camurati-Engelmann disease MONDO:0007542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.34 SOST Sangavi Sivagnanasundram reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 23079137, 36481973, 33078679, 35208525, 36508511; Phenotypes: sclerosteosis 1 MONDO:0010016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.34 PTH1R Sangavi Sivagnanasundram reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 36159186, 37448157, 39327493; Phenotypes: primary failure of tooth eruption MONDO:0007434; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.34 LRP5 Sangavi Sivagnanasundram reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 37659026, 26348019, 12054167, 12579474; Phenotypes: autosomal dominant osteopetrosis 1 MONDO:0011877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.34 IKBKG Sangavi Sivagnanasundram changed review comment from: A condition that typically only affects males. Variants associated with osteopetrosis are primarily located in exon 10. Reported individuals also presented with mild skin features consistent with IP.

PMID: 20499091 - 6yr boy with multiple phenotypes including mild osteopetrosis.

PMID: 11242109 - 2 unrelated males with osteopetrosis as a presenting phenotype and X420W mutation. In vitro functional assay showed that this variant does not completely abolish IKBKG activity/protein however impairs the function.; to: A condition that typically only affects males. Variants associated with osteopetrosis are primarily located in exon 10. Reported individuals also presented with mild skin features consistent with IP.

PMID: 20499091 - 6yr boy with multiple phenotypes including mild osteopetrosis.

PMID: 11242109 - 2 unrelated males with osteopetrosis as a presenting phenotype and X420W mutation was identified. In vitro functional assay showed that this variant does not completely abolish IKBKG activity/protein however impairs the function.
Osteopetrosis v0.34 IKBKG Sangavi Sivagnanasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301645, 20499091, 11242109; Phenotypes: IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162, incontinentia pigmenti MONDO:0010631; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Osteopetrosis v0.34 AMER1 Sangavi Sivagnanasundram reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27369646, 33856753, 35186393; Phenotypes: osteopathia striata with cranial sclerosis MONDO:0010310; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Osteopetrosis v0.34 FERMT3 Sangavi Sivagnanasundram reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234460, 20357244, 18278053; Phenotypes: leukocyte adhesion deficiency 3 MONDO:0013016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.34 CTSK Sangavi Sivagnanasundram reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19232111, 34777883, 32984533, 24269275; Phenotypes: pycnodysostosis MONDO:0009940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.34 ANKH Sangavi Sivagnanasundram reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301634, 20358596; Phenotypes: craniometaphyseal dysplasia MONDO:0015465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.34 DMP1 Zornitza Stark Marked gene: DMP1 as ready
Osteopetrosis v0.34 DMP1 Zornitza Stark Gene: dmp1 has been classified as Green List (High Evidence).
Osteopetrosis v0.34 DMP1 Zornitza Stark Classified gene: DMP1 as Green List (high evidence)
Osteopetrosis v0.34 DMP1 Zornitza Stark Gene: dmp1 has been classified as Green List (High Evidence).
Osteopetrosis v0.33 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Osteopetrosis. Sources: Expert Review
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMP1 were set to 17033625
Phenotypes for gene: DMP1 were set to Hypophosphataemic rickets, MIM#600980
Review for gene: DMP1 was set to GREEN
Added comment: Included due to phenotypic overlap: osteosclerotic changes on X-rays, severe in some individuals.
Sources: Expert Review
Osteopetrosis v0.32 SLC4A2 Zornitza Stark Marked gene: SLC4A2 as ready
Osteopetrosis v0.32 SLC4A2 Zornitza Stark Gene: slc4a2 has been classified as Amber List (Moderate Evidence).
Osteopetrosis v0.32 SLC4A2 Zornitza Stark Classified gene: SLC4A2 as Amber List (moderate evidence)
Osteopetrosis v0.32 SLC4A2 Zornitza Stark Gene: slc4a2 has been classified as Amber List (Moderate Evidence).
Osteopetrosis v0.31 SLC4A2 Zornitza Stark gene: SLC4A2 was added
gene: SLC4A2 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: SLC4A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A2 were set to 34668226; 20507629
Phenotypes for gene: SLC4A2 were set to Osteopetrosis, autosomal recessive 9, MIM# 620366
Review for gene: SLC4A2 was set to AMBER
Added comment: Single individual reported with homozygous missense variant. However, cattle and mouse models support gene-disease association.
Sources: Literature
Osteopetrosis v0.30 Zornitza Stark HPO terms changed from to Increased bone mineral density, HP:0011001
List of related panels changed from to Increased bone mineral density; HP:0011001
Osteopetrosis v0.29 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Osteopetrosis v0.29 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Osteopetrosis v0.29 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from to Osteopetrosis, autosomal recessive 4, MIM#611490
Osteopetrosis v0.28 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Osteopetrosis v0.27 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.26 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Osteopetrosis v0.26 CA2 Zornitza Stark Marked gene: CA2 as ready
Osteopetrosis v0.26 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Osteopetrosis v0.26 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Osteopetrosis v0.25 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.24 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.24 PLEKHM1 Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from to Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497
Osteopetrosis v0.23 PLEKHM1 Zornitza Stark Publications for gene: PLEKHM1 were set to
Osteopetrosis v0.22 PLEKHM1 Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.21 PLEKHM1 Zornitza Stark edited their review of gene: PLEKHM1: Added comment: Three individuals reported with mono allelic variants, and two with bi-allelic. Animal models.; Changed publications: 27291868, 21054159, 17997709, 17404618, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107, Osteopetrosis, autosomal recessive 6 , MIM# 611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.21 PLEKHM1 Zornitza Stark reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27291868, 21054159, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.21 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Osteopetrosis v0.21 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
Osteopetrosis v0.21 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2 MIM#259710
Osteopetrosis v0.20 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Osteopetrosis v0.19 TNFSF11 Zornitza Stark Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.18 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Osteopetrosis v0.18 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Osteopetrosis v0.18 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from to Osteopetrosis, autosomal recessive 5 MIM#259720
Osteopetrosis v0.17 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Osteopetrosis v0.17 OSTM1 Zornitza Stark Mode of inheritance for gene: OSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.16 LEMD3 Zornitza Stark Phenotypes for gene: LEMD3 were changed from Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700 to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700
Osteopetrosis v0.16 LEMD3 Zornitza Stark Marked gene: LEMD3 as ready
Osteopetrosis v0.16 LEMD3 Zornitza Stark Gene: lemd3 has been classified as Green List (High Evidence).
Osteopetrosis v0.16 LEMD3 Zornitza Stark Phenotypes for gene: LEMD3 were changed from to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700
Osteopetrosis v0.15 LEMD3 Zornitza Stark Publications for gene: LEMD3 were set to
Osteopetrosis v0.14 LEMD3 Zornitza Stark Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.13 LEMD3 Zornitza Stark reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34098227, 33598273, 32519343, 32151766, 32151766; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.13 RASGRP2 Zornitza Stark Marked gene: RASGRP2 as ready
Osteopetrosis v0.13 RASGRP2 Zornitza Stark Gene: rasgrp2 has been classified as Red List (Low Evidence).
Osteopetrosis v0.13 RASGRP2 Zornitza Stark Phenotypes for gene: RASGRP2 were changed from to Bleeding disorder, platelet-type, 18 - MIM#615888; Osteopetrosis (disease) MONDO:0017198
Osteopetrosis v0.12 RASGRP2 Zornitza Stark Publications for gene: RASGRP2 were set to
Osteopetrosis v0.11 RASGRP2 Zornitza Stark Mode of inheritance for gene: RASGRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.10 RASGRP2 Zornitza Stark Classified gene: RASGRP2 as Red List (low evidence)
Osteopetrosis v0.10 RASGRP2 Zornitza Stark Gene: rasgrp2 has been classified as Red List (Low Evidence).
Osteopetrosis v0.9 RASGRP2 Zornitza Stark reviewed gene: RASGRP2: Rating: RED; Mode of pathogenicity: None; Publications: 18709451; Phenotypes: Osteopetrosis (disease) MONDO:0017198; Mode of inheritance: None
Osteopetrosis v0.9 RASGRP2 Krithika Murali reviewed gene: RASGRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28637664, 28726538, 28762304, 30046681, 34066320, 33711653, 33376940, 32609603, 30849270, 30046681; Phenotypes: ?Bleeding disorder, platelet-type, 18 - MIM#615888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.9 RASGRP2 Krithika Murali Deleted their review
Osteopetrosis v0.9 RASGRP2 Krithika Murali reviewed gene: RASGRP2: Rating: RED; Mode of pathogenicity: None; Publications: 28637664, 28726538, 28762304, 30046681, 34066320, 33711653, 33376940, 32609603, 30849270, 30046681; Phenotypes: ?Bleeding disorder, platelet-type, 18 - MIM#615888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.9 TMEM53 Zornitza Stark Marked gene: TMEM53 as ready
Osteopetrosis v0.9 TMEM53 Zornitza Stark Gene: tmem53 has been classified as Green List (High Evidence).
Osteopetrosis v0.9 TMEM53 Zornitza Stark Classified gene: TMEM53 as Green List (high evidence)
Osteopetrosis v0.9 TMEM53 Zornitza Stark Gene: tmem53 has been classified as Green List (High Evidence).
Osteopetrosis v0.8 TMEM53 Lucy Spencer gene: TMEM53 was added
gene: TMEM53 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM53 were set to PMID: 33824347
Phenotypes for gene: TMEM53 were set to Primary Bone Dysplasia MONDO: 0018230
Review for gene: TMEM53 was set to GREEN
Added comment: PMID: 33824347- 4 families with sclerosing bone disorder
Sources: Literature
Osteopetrosis v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Marked gene: PLEKHM1 as ready
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Green List (High Evidence).
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17997709, 27291868, 17404618, 27777970, 28290981; Phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Deleted their review
Osteopetrosis v0.6 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Osteopetrosis v0.6 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Osteopetrosis v0.6 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from to Raine syndrome, MIM# 259775; MONDO:0009821
Osteopetrosis v0.5 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Osteopetrosis v0.4 FAM20C Zornitza Stark Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.3 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.3 SGMS2 Bryony Thompson Marked gene: SGMS2 as ready
Osteopetrosis v0.3 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Osteopetrosis v0.3 SGMS2 Bryony Thompson Classified gene: SGMS2 as Green List (high evidence)
Osteopetrosis v0.3 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Osteopetrosis v0.2 SGMS2 Bryony Thompson gene: SGMS2 was added
gene: SGMS2 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 30779713; 32028018
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Review for gene: SGMS2 was set to GREEN
Added comment: 12 patients from 6 unrelated families with the same stopgain variant (p.Arg50*), with osteoporosis that resembles osteogenesis imperfecta. In vitro over-expression assays of the variant demonstrate protein that was completely mislocalized in the cytosolic and nuclear compartments. 2 unrelated families were heterozygous for 2 missense (p.Ile62Ser, p.Met64Arg) with bone fragility and severe short stature, and spondylometaphyseal dysplasia. In vitro assays of each variant demonstrated an enhanced rate of de novo sphingomyelin production by blocking export of a functional enzyme from the endoplasmic reticulum.
Sources: Literature
Osteopetrosis v0.1 Zornitza Stark Panel name changed from Osteopetrosis_VCGS to Osteopetrosis
Panel types changed to Victorian Clinical Genetics Services
Osteopetrosis v0.0 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYROBP was set to Unknown
Osteopetrosis v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF11 was set to Unknown
Osteopetrosis v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF11A was set to Unknown
Osteopetrosis v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFB1 was set to Unknown
Osteopetrosis v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCIRG1 was set to Unknown
Osteopetrosis v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOST was set to Unknown
Osteopetrosis v0.0 SNX10 Zornitza Stark gene: SNX10 was added
gene: SNX10 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNX10 was set to Unknown
Osteopetrosis v0.0 RASGRP2 Zornitza Stark gene: RASGRP2 was added
gene: RASGRP2 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RASGRP2 was set to Unknown
Osteopetrosis v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTH1R was set to Unknown
Osteopetrosis v0.0 PLEKHM1 Zornitza Stark gene: PLEKHM1 was added
gene: PLEKHM1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLEKHM1 was set to Unknown
Osteopetrosis v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OSTM1 was set to Unknown
Osteopetrosis v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP5 was set to Unknown
Osteopetrosis v0.0 LEMD3 Zornitza Stark gene: LEMD3 was added
gene: LEMD3 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LEMD3 was set to Unknown
Osteopetrosis v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IKBKG was set to Unknown
Osteopetrosis v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FERMT3 was set to Unknown
Osteopetrosis v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM20C was set to Unknown
Osteopetrosis v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSK was set to Unknown
Osteopetrosis v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLCN7 was set to Unknown
Osteopetrosis v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CA2 was set to Unknown
Osteopetrosis v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANKH was set to Unknown
Osteopetrosis v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMER1 was set to Unknown
Osteopetrosis v0.0 Zornitza Stark Added panel Osteopetrosis_VCGS