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| Skeletal dysplasia v0.70 | FBLN1 | Zornitza Stark edited their review of gene: FBLN1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.70 | FBLN1 |
Zornitza Stark changed review comment from: Single association to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited; to: Single association of mono-allelic variants to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited. Single report of homozygous missense in a family with syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy. |
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| Skeletal dysplasia v0.70 | FBLN1 | Zornitza Stark edited their review of gene: FBLN1: Changed publications: 11836357, 24084572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.70 | FBLN1 | Zornitza Stark Marked gene: FBLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.70 | FBLN1 | Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.70 | FBLN1 | Zornitza Stark Classified gene: FBLN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.70 | FBLN1 | Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.69 | FBLN1 | Zornitza Stark reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | FBLN1 |
Zornitza Stark gene: FBLN1 was added gene: FBLN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber Mode of inheritance for gene: FBLN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBLN1 were set to 24084572 Phenotypes for gene: FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 |
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