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Ehlers Danlos syndromes v1.3 Zornitza Stark HPO terms changed from to Joint dislocation, HP:0001373; Poor wound healing, HP:0001058; Uterine rupture, HP:0001058; Abnormality of connective tissue, HP:0003549
List of related panels changed from to Joint dislocation; HP:0001373; Poor wound healing; HP:0001058; Uterine rupture; HP:0001058; Abnormality of connective tissue; HP:0003549
Ehlers Danlos syndromes v1.2 C1S Ain Roesley edited their review of gene: C1S: Changed rating: GREEN; Changed publications: 28306229, 30071989, 27745832, 31921203; Changed phenotypes: Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174; Set current diagnostic: yes
Ehlers Danlos syndromes v1.2 C1S Ain Roesley Marked gene: C1S as ready
Ehlers Danlos syndromes v1.2 C1S Ain Roesley Gene: c1s has been classified as Green List (High Evidence).
Ehlers Danlos syndromes v1.2 C1S Ain Roesley Phenotypes for gene: C1S were changed from Periodontal EDS; Ehlers-Danlos syndrome periodontal type 2, 617174 to Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174
Ehlers Danlos syndromes v1.1 C1S Ain Roesley Publications for gene: C1S were set to
Ehlers Danlos syndromes v1.0 Bryony Thompson promoted panel to version 1.0
Ehlers Danlos syndromes v0.5 Bryony Thompson Panel status changed from internal to public
Ehlers Danlos syndromes v0.4 TNXB Paul De Fazio Deleted their review
Ehlers Danlos syndromes v0.4 TNXB Paul De Fazio reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 28306225, 23620400; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ehlers Danlos syndromes v0.4 AEBP1 Bryony Thompson Marked gene: AEBP1 as ready
Ehlers Danlos syndromes v0.4 AEBP1 Bryony Thompson Gene: aebp1 has been classified as Green List (High Evidence).
Ehlers Danlos syndromes v0.4 AEBP1 Bryony Thompson Classified gene: AEBP1 as Green List (high evidence)
Ehlers Danlos syndromes v0.4 AEBP1 Bryony Thompson Gene: aebp1 has been classified as Green List (High Evidence).
Ehlers Danlos syndromes v0.3 AEBP1 Bryony Thompson gene: AEBP1 was added
gene: AEBP1 was added to Ehlers Danlos syndromes. Sources: Literature
Mode of inheritance for gene: AEBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AEBP1 were set to 30759870
Phenotypes for gene: AEBP1 were set to Ehlers-Danlos syndrome, classic-like, 2 MIM#618000; Classical-like EDS
Review for gene: AEBP1 was set to GREEN
Added comment: 7 cases from 5 unrelated families with homozygous or compound heterozygous variants with classical-like EDS phenotype.
Sources: Literature
Ehlers Danlos syndromes v0.2 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Ehlers Danlos syndromes v0.1 COL5A2 Bryony Thompson gene: COL5A2 was added
gene: COL5A2 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS
Ehlers Danlos syndromes v0.1 ZNF469 Bryony Thompson Added phenotypes Brittle cornea syndrome 1, 229200 for gene: ZNF469
Ehlers Danlos syndromes v0.1 TNXB Bryony Thompson Added phenotypes Classical-like EDS; Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 for gene: TNXB
Ehlers Danlos syndromes v0.1 SLC39A13 Bryony Thompson Added phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS for gene: SLC39A13
Ehlers Danlos syndromes v0.1 PRDM5 Bryony Thompson Added phenotypes Brittle cornea syndrome 2, 614170 for gene: PRDM5
Ehlers Danlos syndromes v0.1 PLOD1 Bryony Thompson Added phenotypes Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS for gene: PLOD1
Ehlers Danlos syndromes v0.1 FKBP14 Bryony Thompson Added phenotypes Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS for gene: FKBP14
Ehlers Danlos syndromes v0.1 DSE Bryony Thompson Added phenotypes Musculocontractural EDS; ?Ehlers Danlos syndrome, musculocontractural type 2, 615539 for gene: DSE
Ehlers Danlos syndromes v0.1 COL5A1 Bryony Thompson Added phenotypes Ehlers-Danlos syndrome, classic type, 130000; Classical EDS for gene: COL5A1
Ehlers Danlos syndromes v0.1 COL3A1 Bryony Thompson Added phenotypes Vascular EDS; Ehlers Danlos syndrome, type IV, 130050 for gene: COL3A1
Ehlers Danlos syndromes v0.1 COL1A2 Bryony Thompson Added phenotypes Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Arthrochalasia EDS; Cardiac-valvular EDS; Ehlers Danlos syndrome, type VIIB (AD), 130060 for gene: COL1A2
Ehlers Danlos syndromes v0.1 COL1A1 Bryony Thompson Added phenotypes Arthrochalasia EDS; Ehlers-Danlos syndrome, classic type, 130000; Ehlers-Danlos syndrome, type VIIA, 130060 for gene: COL1A1
Ehlers Danlos syndromes v0.1 COL12A1 Bryony Thompson Added phenotypes Myopathic EDS for gene: COL12A1
Ehlers Danlos syndromes v0.1 CHST14 Bryony Thompson Added phenotypes Ehlers Danlos syndrome, musculocontractural type 1, 601776; Musculocontractural EDS for gene: CHST14
Ehlers Danlos syndromes v0.1 C1S Bryony Thompson Added phenotypes Periodontal EDS; Ehlers-Danlos syndrome periodontal type 2, 617174 for gene: C1S
Ehlers Danlos syndromes v0.1 C1R Bryony Thompson Added phenotypes Periodontal EDS; Ehlers-Danlos syndrome periodontal type 1, 130080 for gene: C1R
Ehlers Danlos syndromes v0.1 B4GALT7 Bryony Thompson Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS for gene: B4GALT7
Ehlers Danlos syndromes v0.1 B3GALT6 Bryony Thompson Added phenotypes Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS for gene: B3GALT6
Ehlers Danlos syndromes v0.1 ADAMTS2 Bryony Thompson Added phenotypes Dermatosparaxis EDS; Ehlers Danlos syndrome, type VIIC, 225410 for gene: ADAMTS2
Ehlers Danlos syndromes v0.0 ZNF469 Bryony Thompson gene: ZNF469 was added
gene: ZNF469 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, 229200
Ehlers Danlos syndromes v0.0 TNXB Bryony Thompson gene: TNXB was added
gene: TNXB was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Classical-like EDS; Ehlers-Danlos syndrome due to tenascin X deficiency, 606408
Ehlers Danlos syndromes v0.0 SLC39A13 Bryony Thompson gene: SLC39A13 was added
gene: SLC39A13 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS
Ehlers Danlos syndromes v0.0 PRDM5 Bryony Thompson gene: PRDM5 was added
gene: PRDM5 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170
Ehlers Danlos syndromes v0.0 PLOD1 Bryony Thompson gene: PLOD1 was added
gene: PLOD1 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS
Ehlers Danlos syndromes v0.0 FKBP14 Bryony Thompson gene: FKBP14 was added
gene: FKBP14 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS
Ehlers Danlos syndromes v0.0 DSE Bryony Thompson gene: DSE was added
gene: DSE was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSE were set to Musculocontractural EDS; ?Ehlers Danlos syndrome, musculocontractural type 2, 615539
Ehlers Danlos syndromes v0.0 COL5A1 Bryony Thompson gene: COL5A1 was added
gene: COL5A1 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS
Ehlers Danlos syndromes v0.0 COL3A1 Bryony Thompson gene: COL3A1 was added
gene: COL3A1 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Vascular EDS; Ehlers Danlos syndrome, type IV, 130050
Ehlers Danlos syndromes v0.0 COL1A2 Bryony Thompson gene: COL1A2 was added
gene: COL1A2 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Arthrochalasia EDS; Cardiac-valvular EDS; Ehlers Danlos syndrome, type VIIB (AD), 130060
Ehlers Danlos syndromes v0.0 COL1A1 Bryony Thompson gene: COL1A1 was added
gene: COL1A1 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Arthrochalasia EDS; Ehlers-Danlos syndrome, classic type, 130000; Ehlers-Danlos syndrome, type VIIA, 130060
Ehlers Danlos syndromes v0.0 COL12A1 Bryony Thompson gene: COL12A1 was added
gene: COL12A1 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL12A1 were set to Myopathic EDS
Ehlers Danlos syndromes v0.0 CHST14 Bryony Thompson gene: CHST14 was added
gene: CHST14 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to Ehlers Danlos syndrome, musculocontractural type 1, 601776; Musculocontractural EDS
Ehlers Danlos syndromes v0.0 C1S Bryony Thompson gene: C1S was added
gene: C1S was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: C1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: C1S were set to Periodontal EDS; Ehlers-Danlos syndrome periodontal type 2, 617174
Ehlers Danlos syndromes v0.0 C1R Bryony Thompson gene: C1R was added
gene: C1R was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: C1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: C1R were set to Periodontal EDS; Ehlers-Danlos syndrome periodontal type 1, 130080
Ehlers Danlos syndromes v0.0 B4GALT7 Bryony Thompson gene: B4GALT7 was added
gene: B4GALT7 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS
Ehlers Danlos syndromes v0.0 B3GALT6 Bryony Thompson gene: B3GALT6 was added
gene: B3GALT6 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS
Ehlers Danlos syndromes v0.0 ADAMTS2 Bryony Thompson gene: ADAMTS2 was added
gene: ADAMTS2 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Dermatosparaxis EDS; Ehlers Danlos syndrome, type VIIC, 225410
Ehlers Danlos syndromes v0.0 Bryony Thompson Added panel Ehlers Danlos syndromes