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Hearing loss

Gene: FOXG1

Red List (low evidence)

FOXG1 (forkhead box G1)
EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 10 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Inheritance:Isolated cases
Created: 9 Feb 2016, 10:03 a.m.
Inheritance:Isolated cases Inheritance:Isolated cases
Created: 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

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert