Anophthalmia_Microphthalmia_Coloboma
Gene: PACS1EnsemblGeneIds (GRCh38): ENSG00000175115
EnsemblGeneIds (GRCh37): ENSG00000175115
OMIM: 607492, Gene2Phenotype
PACS1 is in 7 panels
1 review
Chris Richmond (Genetic Health Queensland)
Multiple papers reporting patients with colobomata - well described.
Sources: LiteratureCreated: 6 Aug 2021, 12:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
615009
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Schuurs-Hoeijmakers syndrome, MIM# 615009
- OMIM
- 607492
- Clinvar variants
- Variants in PACS1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pacs1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PACS1 were changed from 615009 to Schuurs-Hoeijmakers syndrome, MIM# 615009
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pacs1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Chris Richmond (Genetic Health Queensland)gene: PACS1 was added gene: PACS1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PACS1 were set to 32672908 Phenotypes for gene: PACS1 were set to 615009 Penetrance for gene: PACS1 were set to Complete Review for gene: PACS1 was set to GREEN gene: PACS1 was marked as current diagnostic