Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Meckel syndrome 06

Meckel syndrome type 6 is an autosomal recessive disorder caused by mutations in the CC2D2A gene.

Systematic

Meckel syndrome
Meckel syndrome 02
Meckel syndrome 03
Meckel syndrome 05
Meckel syndrome 06
CC2D2A
Meckel syndrome 08
Meckel syndrome 09
Meckel syndrome 10
Meckel syndrome 11
Meckel syndrome 13

References:

1.

Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

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2.

Tallila J et al. (2008) Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

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3.

OMIM.ORG article

Omim 612284 [^]
Update: April 29, 2019