Severe microcephaly
Gene: FOXG1EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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)
More than 20 individuals reported with de novo variants in this gene. Microcephaly is part of the phenotype.
Sources: Expert listCreated: 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 Green
- 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
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Fetal anomalies
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: FOXG1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to FOXG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: foxg1 has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: FOXG1.
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