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| Clefting disorders v0.184 | COL9A3 | Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome; Cleft palate to Stickler syndrome, type VI, MIM# 620022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.183 | COL9A3 | Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.68 | COL9A3 | Zornitza Stark Phenotypes for gene: COL9A3 were changed from Cleft palate to Stickler syndrome; Cleft palate | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.64 | COL9A3 | Zornitza Stark reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24273071, 30450842, 31090205, 20301479; Phenotypes: Stickler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.63 | COL9A2 | Zornitza Stark Phenotypes for gene: COL9A2 were changed from Stickler syndrome; Orofacial Clefting with skeletal features; ?Stickler syndrome type V, 614284; Cleft palate to Stickler syndrome, type V, MIM# 614284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.61 | COL9A2 | Zornitza Stark reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.0 | COL9A2 |
Zornitza Stark gene: COL9A2 was added gene: COL9A2 was added to Clefting_GEL. Sources: Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A2 were set to 21671392 Phenotypes for gene: COL9A2 were set to Stickler syndrome; Orofacial Clefting with skeletal features; ?Stickler syndrome type V, 614284; Cleft palate |
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| Clefting disorders v0.0 | ICK |
Zornitza Stark gene: ICK was added gene: ICK was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICK were set to 19185282; 27069622; 24853502 Phenotypes for gene: ICK were set to ECO; Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate) |
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| Clefting disorders v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Clefting_GEL. Sources: Expert Review Green,UKGTN Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 10706363; 20301567; 12612583; 16538226 Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME, TYPE I; Otopalatodigital syndrome, type II, 304120 (includes clefting); Orofacial Clefting with skeletal anomalies; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1; Melnick-Needles syndrome, 309350 (includes clefting); Otopalatodigital syndrome, type I, 311300 (includes clefting) |
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| Clefting disorders v0.0 | COL9A1 |
Zornitza Stark gene: COL9A1 was added gene: COL9A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A1 were set to 16909383; 21421862 Phenotypes for gene: COL9A1 were set to Autosomal recessive Stickler syndrome; Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms; Orofacial Clefting with skeletal features; Cleft palate |
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| Clefting disorders v0.0 | COL2A1 |
Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Victorian Clinical Genetics Services,Eligibility statement prior genetic testing Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL2A1 were set to 16752401; 17721977; 1677770 Phenotypes for gene: COL2A1 were set to STL1; Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss); Stickler sydrome, type I, non syndromic ocular; Cleft palate; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE; ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM; STICKLER SYNDROME, TYPE I; Orofacial Clefting with skeletal features; Stickler Syndrome; STICKLER SYNDROME, TYPE I (STL1), 108300; STICKLER SYNDROME, VITREOUS TYPE 1 |
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| Clefting disorders v0.0 | COL11A2 |
Zornitza Stark gene: COL11A2 was added gene: COL11A2 was added to Clefting_GEL. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A2 were set to Cleft palate; OSMED; STL3; Stickler syndrome, type III; Non-ocular Stickler syndrome; STICKLER SYNDROME, NONOCULAR TYPE |
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| Clefting disorders v0.0 | COL11A1 |
Zornitza Stark gene: COL11A1 was added gene: COL11A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Victorian Clinical Genetics Services,Eligibility statement prior genetic testing Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate |
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