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Severe microcephaly

Gene: FOXG1

No list

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

1 review

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

History Filter Activity

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