1. Genes and Genomic Entities
  2. FEM1B

FEM1B

fem-1 homolog B
OMIM: 613539, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green FEM1B in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539
Green FEM1B in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review 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
    Green FEM1B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:621263
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071