Skeletal dysplasia
Gene: ANAPC1
seen in multiple families, either homozygous for, or compound heterozygous with, a -198 intronic variant shown to produce a pseudo exon containing a stop codon. While there are separate diagnostic features, patients can have short stature and skeletal abnormalities.Created: 29 Jan 2021, 3:17 p.m. | Last Modified: 29 Jan 2021, 3:17 p.m.
Panel Version: 2.80
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson syndrome type 1, OMIM:618625
Publications
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 31303264 describes 10 patients from 7 families with Rothmund-Thomson syndrome. 4 of 7 families are homozygous for the same intronic variant (c.2705-198C-T) and the remaining 3 affected families are compound heterozygous (c.2705-198C-T with another variant in the gene). 5/10 affected individuals have skeletal abnormalities; however, the phenotype is weak. Therefore, this gene has been given an Amber rating.
Have tagged with "for-review" so that GMS could review whether this gene is appropriate for the panel or not.
Sources: LiteratureCreated: 15 Dec 2020, 12:02 p.m. | Last Modified: 15 Dec 2020, 1:03 p.m.
Panel Version: 2.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Publications
Tag to_be_confirmed_NHSE tag was added to gene: ANAPC1.
Tag for-review tag was added to gene: ANAPC1.
Gene: anapc1 has been classified as Amber List (Moderate Evidence).
gene: ANAPC1 was added gene: ANAPC1 was added to Skeletal dysplasia. Sources: Literature 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, MONDO:0016368 Review for gene: ANAPC1 was set to AMBER