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DDG2P

Gene: SEMA6B

Green List (high evidence)
SEMA6B (semaphorin 6B)
EnsemblGeneIds (GRCh38): ENSG00000167680
EnsemblGeneIds (GRCh37): ENSG00000167680
OMIM: 608873, Gene2Phenotype
SEMA6B is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SEMA6B-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 32169168, 33798445, 34017830, 34092044, 34110594, 34218423, 35604360). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02945.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SEMA6B-related neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and increased gene product level (PMIDs: 35604360;34017830;33798445;34092044;32169168;34218423;34110594).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SEMA6B-related neurodevelopmental disorder; MONDO:0030034; OMIM:618876.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEMA6B-related neurodevelopmental disorder
Tags
de novo
OMIM
608873
Clinvar variants
Variants in SEMA6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SEMA6B was changed from Other to None

6 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: SEMA6B.

4 Oct 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SEMA6B was added gene: SEMA6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEMA6B were set to 34110594; 34017830; 33798445; 32169168; 34218423; 35604360; 34092044 Phenotypes for gene: SEMA6B were set to SEMA6B-related neurodevelopmental disorder Mode of pathogenicity for gene: SEMA6B was set to Other