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  3. FOSL2
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DDG2P

Gene: FOSL2

Green List (high evidence)
FOSL2 (FOS like 2, AP-1 transcription factor subunit)
EnsemblGeneIds (GRCh38): ENSG00000075426
EnsemblGeneIds (GRCh37): ENSG00000075426
OMIM: 601575, Gene2Phenotype
FOSL2 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for FOSL2-related neurodevelopmental disorder with scalp and enamel defects are moderate, monoallelic_autosomal and undetermined (PMID:36197437). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03482.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease FOSL2-related neurodevelopmental disorder with scalp and enamel defects is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36197437).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0968978; OMIM:620789.0; FOSL2-related neurodevelopmental disorder with scalp and enamel defects

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FOSL2-related neurodevelopmental disorder with scalp and enamel defects
OMIM
601575
Clinvar variants
Variants in FOSL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: FOSL2 was changed from Other to None

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FOSL2 was added gene: FOSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOSL2 were set to 36197437 Phenotypes for gene: FOSL2 were set to FOSL2-related neurodevelopmental disorder with scalp and enamel defects Mode of pathogenicity for gene: FOSL2 was set to Other