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Intellectual disability

Gene: FEM1B

No list

FEM1B (fem-1 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000169018
EnsemblGeneIds (GRCh37): ENSG00000169018
OMIM: 613539, Gene2Phenotype
FEM1B is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Lecoquierre et al. (2019) (PMID: 31036916) conducted a large candidate gene discovery studying and identified a de novo missense variant (p.Arg126Gln) in a patient with syndromic global developmental delay. Recurrence of the same variant was highlighted in an individual from the DDD study, and the another from GeneMatcher. It is said that the three patients share a similar phenotype; however, any further details are limited and it is not possible to ascertain whether the additional patients refer to different individuals. No function analysis was undertaken to validate the implication of FEM1B.

Gene not associated with any phenotype on OMIM or G2P.
Created: 7 Jul 2020, 5:19 p.m. | Last Modified: 8 Jul 2020, 8:13 a.m.
Panel Version: 3.157

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Global developmental delay

Publications

Zornitza Stark (Australian Genomics)

I don't know

PMID: 31036916 - a single individual with de novo variant reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. The variant is in a highly constrained region of the protein. Cannot be certain the DDD and GeneMatcher individuals are unrelated, therefore I have treated as two reports for now.
Sources: Literature
Created: 23 Apr 2020, 4:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Syndromic intellectual disability
OMIM
613539
Clinvar variants
Variants in FEM1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FEM1B was added gene: FEM1B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FEM1B were set to 31036916 Phenotypes for gene: FEM1B were set to Syndromic intellectual disability Review for gene: FEM1B was set to AMBER