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Intellectual disability syndromic and non-syndromic

Gene: SMAD6

No list

SMAD6 (SMAD family member 6)
EnsemblGeneIds (GRCh38): ENSG00000137834
EnsemblGeneIds (GRCh37): ENSG00000137834
OMIM: 602931, Gene2Phenotype
SMAD6 is in 9 panels

1 review

Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)

Green List (high evidence)

7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606) and 11/15 had neurodevelopmental delay in Timberlake et al. (PMID: 27606499)
Sources: Literature
Created: 12 May 2025, 6:40 a.m. | Last Modified: 12 May 2025, 6:47 a.m.
Panel Version: 1.141

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

History Filter Activity

12 May 2025, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance

Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)

gene: SMAD6 was added gene: SMAD6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD6 were set to PMID: 32499606 Penetrance for gene: SMAD6 were set to Incomplete Review for gene: SMAD6 was set to GREEN