Gene: transmembrane protein 216; TMEM216


Gene Symbol: TMEM216
OMIM: 613277
Chromosome location: 11q12.2

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Meckel syndrome 2 || c.341T>G

Phenotype:    Meckel syndrome 2
Dna Change:    c.341T>G
Protein Change:    p.Leu114Arg
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 14
Transcript:    NM_001173991.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA2 unrelated familiesNAValente 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, AttiƩ-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, AttiƩ-Bitach T, Gleeson JG, Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.Nat. Genet.. 2010; 42(7):619-25