Anophthalmia_Microphthalmia_Coloboma
Gene: FAT1EnsemblGeneIds (GRCh38): ENSG00000083857
EnsemblGeneIds (GRCh37): ENSG00000083857
OMIM: 600976, Gene2Phenotype
FAT1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
5 families reported with eye abnormalities in addition to the renal phenotype.
Sources: Expert ReviewCreated: 22 May 2020, 9:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- facial dysmorphism
- colobomatous microphthalmia
- ptosis
- syndactyly with or without nephropathy
- OMIM
- 600976
- Clinvar variants
- Variants in FAT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fat1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fat1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAT1 was added gene: FAT1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT1 were set to 30862798; 26905694 Phenotypes for gene: FAT1 were set to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy Review for gene: FAT1 was set to GREEN