Monogenic hearing loss
Gene: FOXG1EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 10 panels
2 reviews
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
Inheritance:Isolated casesCreated: 9 Feb 2016, 10:03 a.m.
Inheritance:Isolated cases Inheritance:Isolated casesCreated: 7 Feb 2016, 8:52 a.m.
Mode of inheritance
Other
Phenotypes
#613454:Rett syndrome, congenital variant[Slow postnatal growth; Microcephaly, postnatal, progressive; Poor eye contact; BruxismTongue thrustingSialorrhea; Abnormal breathing patterns; Gastroesophageal refluxConstipation; ScoliosisKyphosis; Genu valgu; Pes planusEquinovarus; Mental retardation, severeNeonatal hypotoniaNeonatal irresponsivenessNeonatal irritabilityDelayed motor developmentDevelopmental regression before age 6 monthsApraxiaSeizuresJerky limb movementsStereotypic movementsSpasticityDyskinesiaChoreaAthetosisDystoniaLack of speech developmentImpaired social interactionAbnormal sleep patternsEEG abnormalitiesEEG shows with a multifocal pattern with spikes and sharp wavesCorpus callosum hypoplasiaDelayed myelinationSimplified gyral patternReduced white matter volumePachygyria]
Publications
Details
- Sources
-
- Expert
- OMIM
- 164874
- Clinvar variants
- Variants in FOXG1
- Penetrance
- Complete
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)FOXG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert