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| Prepair 1000+ v1.1294 | FLNA | Zornitza Stark Marked gene: FLNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1294 | FLNA | Zornitza Stark Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1294 | FLNA | Zornitza Stark Phenotypes for gene: FLNA were changed from FG syndrome 2, 300321 (3) to FG syndrome 2, MIM#300321; Frontometaphyseal dysplasia 1, MIM#305620; Heterotopia, periventricular, 1, MIM#300049; Intestinal pseudoobstruction, neuronal, MIM#300048; Melnick-Needles syndrome, MIM#309350; Otopalatodigital syndrome, type I, MIM#311300; Otopalatodigital syndrome, type II, MIM#304120; Terminal osseous dysplasia, MIM#300244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1293 | FLNA | Zornitza Stark Publications for gene: FLNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1257 | FLNA | Crystle Lee reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089473, 26471271, 22366253; Phenotypes: Cardiac valvular dysplasia, X-linked, MIM#314400, Congenital short bowel syndrome, MIM#300048, Frontometaphyseal dysplasia 1, MIM#305620, Heterotopia, periventricular, 1, MIM#300049, Intestinal pseudoobstruction, neuronal, MIM#300048, Melnick-Needles syndrome, MIM#309350, Otopalatodigital syndrome, type I, MIM#311300, Otopalatodigital syndrome, type II, MIM#304120, Terminal osseous dysplasia, MIM#300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FLNA | Seb Lunke Added phenotypes FG syndrome 2, 300321 (3) for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3) |
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