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| BabyScreen+ newborn screening v0.1710 | COL9A1 |
David Amor changed review comment from: Gene-disease association: strong but rare, prbably <1% of Sticller syndrome; Van Camp et al. (2006) described a consanguineous Moroccan family in which 4 of 10 sibs had features characteristic of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. Nikopoulos et al. (2011) reported 2 sisters in a Turkish family and 1 boy in a Moroccan family with features of autosomal recessive Stickler syndrome. All 3 individuals had myopia, vitreous changes, sensorineural hearing loss, and epiphyseal dysplasia. They also had exudative rhegmatogenous retinal detachment. Severity: moderate-severe Age of onset: congenital Non-molecular confirmatory testing: Affected individuals have moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, cataracts, and epiphyseal dysplasia Treatment: as per other Stickler syndrome; to: Gene-disease association: strong but rare, prbably <1% of Sticller syndrome; Van Camp et al. (2006) described a consanguineous Moroccan family in which 4 of 10 sibs had features characteristic of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. Nikopoulos et al. (2011) reported 2 sisters in a Turkish family and 1 boy in a Moroccan family with features of autosomal recessive Stickler syndrome. All 3 individuals had myopia, vitreous changes, sensorineural hearing loss, and epiphyseal dysplasia. They also had exudative rhegmatogenous retinal detachment. Severity: moderate-severe Age of onset: congenital Non-molecular confirmatory testing: Affected individuals have moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, cataracts, and epiphyseal dysplasia Treatment: as per other Stickler syndrome |
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| BabyScreen+ newborn screening v0.1151 | COL11A1 |
Zornitza Stark changed review comment from: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome. There is some genotype-phenotype correlation. Treatment: ocular surveillance and surgery to prevent retinal detachment For review; to: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome. There is some genotype-phenotype correlation. Treatment: ocular surveillance and surgery to prevent retinal detachment. Usually after age 2-3 years. Discussed with ophthalmology: would start glaucoma surveillance in first year of life. |
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| BabyScreen+ newborn screening v0.1151 | COL2A1 |
Zornitza Stark changed review comment from: Variants in this gene are associated with a range of skeletal phenotypes. Onset and severity can be variable. Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment. For review.; to: Variants in this gene are associated with a range of skeletal phenotypes. Onset and severity can be variable. Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment. This is usually after the age of 2-3 years. Discussed with ophthalmology, would start glaucoma surveillance in the first year of life. |
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| BabyScreen+ newborn screening v0.900 | EFL1 | Zornitza Stark reviewed gene: EFL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.640 | CHM | Zornitza Stark Marked gene: CHM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.640 | CHM | Zornitza Stark Gene: chm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.640 | CHM | Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideraemia MIM#303100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.639 | CHM | Zornitza Stark Classified gene: CHM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.639 | CHM | Zornitza Stark Gene: chm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.638 | CHM | Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideraemia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.500 | SBDS | Seb Lunke Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome to Shwachman-Diamond syndrome, MIM# 260400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.498 | SBDS | Seb Lunke reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22191555, 20301722; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | SBDS |
Zornitza Stark gene: SBDS was added gene: SBDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome |
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| BabyScreen+ newborn screening v0.0 | EFL1 |
Zornitza Stark gene: EFL1 was added gene: EFL1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941 |
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| BabyScreen+ newborn screening v0.0 | CHM |
Zornitza Stark gene: CHM was added gene: CHM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHM were set to Choroideremia |
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