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Severe microcephaly

Gene: FOXG1

Amber List (moderate evidence)

FOXG1 (forkhead box G1)
EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. PMID 27029630 reports 85% (23/27) of patients with FOXG1 variants have microcephaly, defined as greater than 2 SDs below the mean for age, acquired postnatally in most cases.
Created: 3 Jun 2021, 11:58 a.m. | Last Modified: 3 Jun 2021, 11:58 a.m.
Panel Version: 2.198
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 3 Jun 2021, 11:19 a.m. | Last Modified: 3 Jun 2021, 11:19 a.m.
Panel Version: 2.196

Zornitza Stark (Australian Genomics)

Green List (high evidence)

More than 20 individuals reported with de novo variants in this gene. Microcephaly is part of the phenotype.
Sources: Expert list
Created: 4 Sep 2020, 10:01 a.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Rett Syndrome, congenital variant OMIM:613454
  • Rett syndrome, congenital variant MONDO:0013270
Tags
Q2_21_rating
OMIM
164874
Clinvar variants
Variants in FOXG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jun 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FOXG1 were changed from Rett syndrome, congenital variant, MIM# 613454 to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270

3 Jun 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

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

3 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: foxg1 has been classified as Amber List (Moderate Evidence).

3 Jun 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: FOXG1.

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FOXG1 was added gene: FOXG1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037 Phenotypes for gene: FOXG1 were set to Rett syndrome, congenital variant, MIM# 613454 Review for gene: FOXG1 was set to GREEN gene: FOXG1 was marked as current diagnostic