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  3. FOXG1
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Fetal anomalies

Gene: FOXG1

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

slow postnatal growth, post natal microcephaly are commonly reported features

however, 7 probands reported to have <-2SD birth length and 12 with <-2SD head circumference

additional features include kyphoscoliosis/scoliosis, corpus callosum anomalies, delayed myelination and cortical anomalies
Created: 13 Dec 2021, 3:42 a.m. | Last Modified: 13 Dec 2021, 3:42 a.m.
Panel Version: 0.1241

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rett syndrome, congenital variant MIM#613454

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Dec 2021, 3:42 a.m.
Last Modified: 13 Dec 2021, 3:42 a.m.
Panel version: 0.1241

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 individuals reported with de novo variants in this gene. Microcephaly is part of the phenotype.
Created: 4 Sep 2020, 9:59 a.m. | Last Modified: 4 Sep 2020, 9:59 a.m.
Panel Version: 0.469

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rett syndrome, congenital variant, MIM# 613454

Publications

Created: 4 Sep 2020, 9:59 a.m.
Last Modified: 4 Sep 2020, 9:59 a.m.
Panel version: Imported from Microcephaly panel version 0.469

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rett Syndrome, congenital variant OMIM:613454
  • Rett syndrome, congenital variant MONDO:0013270
OMIM
164874
Clinvar variants
Variants in FOXG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxg1 has been classified as Green List (High Evidence).

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630

13 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FOXG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXG1 was added gene: FOXG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630 Phenotypes for gene: FOXG1 were set to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270