OMIM: 603194Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | TMEM216 |
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| Dna Change: | c.341T>G |
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| Protein Change: | p.Leu114Arg |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 14 |
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| Transcript: | NM_001173991.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 2 unrelated families | NA | Valente EM et al., 2010Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG, . Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.. Nat. Genet.. 2010; 42(7):619-25 |
References
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG, Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.Nat. Genet.. 2010; 42(7):619-25