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Metaphyseal dysplasias v0.5 Zornitza Stark HPO terms changed from to Metaphyseal dysplasia, HP:0100255
List of related panels changed from to Metaphyseal dysplasia; HP:0100255
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Metaphyseal dysplasias v0.4 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Metaphyseal dysplasias v0.4 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Metaphyseal dysplasias v0.4 EXOC6B Bryony Thompson Classified gene: EXOC6B as Green List (high evidence)
Metaphyseal dysplasias v0.4 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Metaphyseal dysplasias v0.3 EXOC6B Bryony Thompson gene: EXOC6B was added
gene: EXOC6B was added to Metaphyseal dysplasias. Sources: Literature
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675
Review for gene: EXOC6B was set to GREEN
Added comment: 6 affected individuals from 4 families, and supporting assays in patient cells
PMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]
PMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20
PMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis
Sources: Literature
Metaphyseal dysplasias v0.2 SRP54 Tiong Tan Classified gene: SRP54 as Amber List (moderate evidence)
Metaphyseal dysplasias v0.2 SRP54 Tiong Tan Gene: srp54 has been classified as Amber List (Moderate Evidence).
Metaphyseal dysplasias v0.1 Tiong Tan Panel status changed from internal to public
Metaphyseal dysplasias v0.0 SRP54 Tiong Tan Marked gene: SRP54 as ready
Metaphyseal dysplasias v0.0 SRP54 Tiong Tan Gene: srp54 has been classified as Green List (High Evidence).
Metaphyseal dysplasias v0.0 SRP54 Tiong Tan reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: None; Publications: 29914977; Phenotypes: SBDS-like, severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metaphyseal dysplasias v0.0 RUNX2 Tiong Tan gene: RUNX2 was added
gene: RUNX2 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX2 were set to Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600
Metaphyseal dysplasias v0.0 MMP9 Tiong Tan gene: MMP9 was added
gene: MMP9 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MMP9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MMP9 were set to 19615667
Phenotypes for gene: MMP9 were set to 613073METAPHYSEAL ANADYSPLASIA 2
Metaphyseal dysplasias v0.0 MMP13 Tiong Tan gene: MMP13 was added
gene: MMP13 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MMP13 were set to 24648384
Phenotypes for gene: MMP13 were set to Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400
Metaphyseal dysplasias v0.0 SRP54 Tiong Tan gene: SRP54 was added
gene: SRP54 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SRP54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRP54 were set to SCN8; 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
Metaphyseal dysplasias v0.0 DNAJC21 Tiong Tan gene: DNAJC21 was added
gene: DNAJC21 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC21 were set to 617052 BONE MARROW FAILURE SYNDROME 3; BMFS3
Metaphyseal dysplasias v0.0 EFL1 Tiong Tan gene: EFL1 was added
gene: EFL1 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFL1 were set to SDS2; 617941 SHWACHMAN-DIAMOND SYNDROME 2
Metaphyseal dysplasias v0.0 SBDS Tiong Tan gene: SBDS was added
gene: SBDS was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400
Metaphyseal dysplasias v0.0 PTH1R Tiong Tan gene: PTH1R was added
gene: PTH1R was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Chondrodysplasia, Blomstrand type 215045; Metaphyseal chondrodysplasia, Murk Jansen type 156400
Metaphyseal dysplasias v0.0 RMRP Tiong Tan gene: RMRP was added
gene: RMRP was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095
Metaphyseal dysplasias v0.0 POLR1D Tiong Tan gene: POLR1D was added
gene: POLR1D was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 613717
Metaphyseal dysplasias v0.0 COL10A1 Tiong Tan gene: COL10A1 was added
gene: COL10A1 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL10A1 were set to Metaphyseal chondrodysplasia, Schmid type 156500
Metaphyseal dysplasias v0.0 Tiong Tan Added panel Metaphyseal dysplasias