Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at next review.
Created: 11 Dec 2020, 3:36 p.m. | Last Modified: 11 Dec 2020, 3:36 p.m.
Panel Version: 2.31
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.
Sources: Expert list
Created: 8 Jul 2020, 7:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rothmund Thomson syndrome type 1, OMIM 618625
Variants in this GENE are reported as part of current diagnostic practice
Gene: anapc1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ANAPC1.
Phenotypes for gene: ANAPC1 were changed from Rothmund Thomson syndrome type 1, OMIM 618625 to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
gene: ANAPC1 was added gene: ANAPC1 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 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