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  2. Hereditary Spastic Paraplegia - paediatric
  3. FOXG1
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Hereditary Spastic Paraplegia - paediatric

Gene: FOXG1

Red List (low evidence)
FOXG1 (forkhead box G1)
EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Spastic paraparesis does not appear to be a prominent feature for the condition. Only found one reported case with variants in this gene.
Created: 19 Apr 2020, 10:08 a.m. | Last Modified: 19 Apr 2020, 10:08 a.m.
Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rett syndrome, congenital variant MIM#613454

Publications

Created: 19 Apr 2020, 10:08 a.m.
Last Modified: 19 Apr 2020, 10:08 a.m.
Panel version: 0.67

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Rett syndrome
OMIM
164874
Clinvar variants
Variants in FOXG1
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: foxg1 has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: foxg1 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FOXG1 was added gene: FOXG1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXG1 were set to Rett syndrome