Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Meckel syndrome 13

Meckel syndrome type 13 is an autosomal recessive disorder caused by mutations in the TMEM107 gene.

Systematic

Meckel syndrome
Meckel syndrome 02
Meckel syndrome 03
Meckel syndrome 05
Meckel syndrome 06
Meckel syndrome 08
Meckel syndrome 09
Meckel syndrome 10
Meckel syndrome 11
Meckel syndrome 13
TMEM107

References:

1.

Christopher KJ et al. (2012) Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.

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2.

Shaheen R et al. (2015) Identification of a novel MKS locus defined by TMEM107 mutation.

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3.

Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

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4.

OMIM.ORG article

Omim 617562 [^]
Update: April 29, 2019