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  3. FILIP1
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DDG2P

Gene: FILIP1

Green List (high evidence)
FILIP1 (filamin A interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000118407
EnsemblGeneIds (GRCh37): ENSG00000118407
OMIM: 607307, Gene2Phenotype
FILIP1 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FILIP1-related arthrogryposis multiplex congenita with microcephaly is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 36943452).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FILIP1-related arthrogryposis multiplex congenita with microcephaly

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FILIP1-related arthrogryposis multiplex congenita with microcephaly
OMIM
607307
Clinvar variants
Variants in FILIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FILIP1 was added gene: FILIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36943452 Phenotypes for gene: FILIP1 were set to FILIP1-related arthrogryposis multiplex congenita with microcephaly