Bilateral congenital or childhood onset cataracts

Gene: ANAPC1

Submitted on behalf of NHS GMS "Please note that there is a common deep intronic variant."

Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.

Panel Version: 2.98

The rating of this gene has been updated following NHS Genomic Medicine Service approval.Please note that there is a common deep intronic variant

Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.

Panel Version: 2.98

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

Green List (high evidence)

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

Phenotypes
Rothmund Thomson syndrome type 1, OMIM 618625

Publications

• 31303264

Variants in this GENE are reported as part of current diagnostic practice