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Fetal anomalies

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

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Beth Young (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Green on DDG2P and Intellectual disability panels. Lecoquierre et al. (2024) reported 5 unrelated patients, aged 3.5 to 25 years, with a severe neurodevelopmental disorder and mutation in the FEM1B gene. Recurrent de novo missense variant; c.377G>A, p.(Arg126Gln). Mouse model studies showes delayed neuronal migration. Malformations were noted at birth in 2 patients who had talipes equinovarus and congenital heart defects. Three patients had brain malformations, including corpus callosum abnormalities in 3 and cerebellar abnormalities in 2; one of the patients also had periatrial gray matter heterotopia, arachnoid cyst, and enlargement of the ventricles. Three patients had orthopedic abnormalities, including scoliosis in 3, fused cervical vertebrae in 1, and hip dysplasia in 1. Phenotype would be detected prenatally.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539
OMIM
613539
Clinvar variants
Variants in FEM1B
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539 for gene: FEM1B

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: FEM1B was added gene: FEM1B was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted