Cataract
Gene: ANAPC1EnsemblGeneIds (GRCh38): ENSG00000153107
EnsemblGeneIds (GRCh37): ENSG00000153107
OMIM: 608473, Gene2Phenotype
ANAPC1 is in 5 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Note recurrent intronic variant present either in homozygous or compound heterozygous state in all reported individuals so far, c.2705−198C>T. Several of the families were Amish.Created: 19 Nov 2020, 9:59 p.m. | Last Modified: 19 Nov 2020, 9:59 p.m.
Panel Version: 0.243
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson syndrome type 1, OMIM 618625
Lauren Akesson (Royal Melbourne Hospital)
Concordance with previous review. Rothmund-Thomson syndrome type 1 is associated with juvenile cataracts. Ajeawung et al (PMID 31303264) described 10 individuals from 7 unrelated families with biallelic ANAPC1 variants, whom all had bilateral juvenile cataracts.Created: 20 Mar 2020, 4:25 a.m. | Last Modified: 20 Mar 2020, 4:25 a.m.
Panel Version: 0.19
Phenotypes
Rothmund-Thomson syndrome type 1
Publications
Alison Yeung (Victorian Clinical Genetics Services)
7 reported unrelated families
Sources: LiteratureCreated: 29 Jan 2020, 4:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson syndrome type 1, OMIM 618625
Publications
- PMID: 31303264
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Rothmund Thomson syndrome type 1, OMIM 618625
- Tags
- OMIM
- 608473
- Clinvar variants
- Variants in ANAPC1
- Penetrance
- None
- Publications
-
- PMID: 31303264
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag deep intronic tag was added to gene: ANAPC1.
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: anapc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: anapc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: anapc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: ANAPC1 was added gene: ANAPC1 was added to Cataract. Sources: Literature Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to PMID: 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625 Review for gene: ANAPC1 was set to GREEN gene: ANAPC1 was marked as current diagnostic