Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Meckel syndrome 03

Meckel syndrome type 3 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.

Systematic

Meckel syndrome
Meckel syndrome 02
Meckel syndrome 03
TMEM67
Meckel syndrome 05
Meckel syndrome 06
Meckel syndrome 08
Meckel syndrome 09
Meckel syndrome 10
Meckel syndrome 11
Meckel syndrome 13

References:

1.

Consugar MB et al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

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2.

Adams M et al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.

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3.

Smith UM et al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

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4.

Shaheen R et al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

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5.

Nauta J et al. (2000) New rat model that phenotypically resembles autosomal recessive polycystic kidney disease.

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6.

Morgan NV et al. (2002) A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

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7.

OMIM.ORG article

Omim 607361 [^]
Update: April 29, 2019