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DDG2P

Gene: FEM1B

Green List (high evidence)
FEM1B (fem-1 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000169018
EnsemblGeneIds (GRCh37): ENSG00000169018
OMIM: 613539, Gene2Phenotype
FEM1B is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Comment on phenotypes: OMIM phenotype updated 19 Mar 2026.
Created: 19 Mar 2026, 4:53 p.m. | Last Modified: 19 Mar 2026, 4:53 p.m.
Panel Version: 6.438
Created: 19 Mar 2026, 4:53 p.m.
Last Modified: 19 Mar 2026, 4:53 p.m.
Panel version: 6.438

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FEM1B-related neurodevelopmental disorder with or without brain abnormalities is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 31036916;38465576).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

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

Phenotypes
FEM1B-related neurodevelopmental disorder with or without brain abnormalities

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539
  • FEM1B-related neurodevelopmental disorder with or without brain abnormalities
Tags
de novo
OMIM
613539
Clinvar variants
Variants in FEM1B
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked was removed from gene: FEM1B.

19 Mar 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: FEM1B were changed from FEM1B-related neurodevelopmental disorder with or without brain abnormalities to Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539; FEM1B-related neurodevelopmental disorder with or without brain abnormalities

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: FEM1B.

21 Feb 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: FEM1B.

21 Feb 2025, 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: FEM1B was added gene: FEM1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FEM1B were set to 31036916; 38465576 Phenotypes for gene: FEM1B were set to FEM1B-related neurodevelopmental disorder with or without brain abnormalities Mode of pathogenicity for gene: FEM1B was set to Other