Polydactyly
Gene: GLI1EnsemblGeneIds (GRCh38): ENSG00000111087
EnsemblGeneIds (GRCh37): ENSG00000111087
OMIM: 165220, Gene2Phenotype
GLI1 is in 3 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
>10 unrelated probands reported, both AD and AR reported
Sources: LiteratureCreated: 20 Dec 2021, 5:36 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Polydactyly, postaxial, type A8 MIM#618123
- Polydactyly, preaxial I MIM#174400
- OMIM
- 165220
- Clinvar variants
- Variants in GLI1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gli1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gli1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: GLI1 was added gene: GLI1 was added to Polydactyly. Sources: Literature Mode of inheritance for gene: GLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLI1 were set to 34721536; 31621941; 31549748; 30620395 Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400 Penetrance for gene: GLI1 were set to unknown Review for gene: GLI1 was set to GREEN gene: GLI1 was marked as current diagnostic