Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Meckel syndrome 02

Meckel syndrome type 2 is an autosomal recessive disorder caused by mutations in the TMEM216 gene.

Systematic

Meckel syndrome
Meckel syndrome 02
TMEM216
Meckel syndrome 03
Meckel syndrome 05
Meckel syndrome 06
Meckel syndrome 08
Meckel syndrome 09
Meckel syndrome 10
Meckel syndrome 11
Meckel syndrome 13

References:

1.

Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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2.

Verloes A et al. (1992) Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.

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3.

Ahdab-Barmada M et al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

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4.

Paavola P et al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

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5.

Merscher S et al. (1997) A 5.5-Mb high-resolution integrated map of distal 11q13.

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6.

Pattyn A et al. (1997) Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis.

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7.

Roume J et al. (1997) Genetic heterogeneity of Meckel syndrome.

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8.

Roume J et al. (1998) A gene for Meckel syndrome maps to chromosome 11q13.

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9.

OMIM.ORG article

Omim 603194 [^]
Update: April 29, 2019