Patient database
We searched PubMed® and HGMD® (Stenson et al., 2017) databanks (last
query 05/2020) for reported patients with biallelic genetic variants inCEP120 and CC2D2A and detected 31 relevant publications.
All genetic variants were manually curated and annotated using Ensembl
Variant Effect Predictor (Ensembl release 100) (Yates et al., 2020),
NCBI ClinVar and VarSome (Kopanos et al., 2019), matched with allele
frequency data from the general population assessed via gnomAD v2.1.1.
(Karczewski et al., 2020) and compiled using an identifier following the
HGVS identification standard (den Dunnen et al., 2016). Patients
reported in multiple publications were only included once in our
database (if possible to detect) and patients with incomplete genetic or
phenotypic information were not included. For each included patient,
available phenotypic data were reviewed and where necessary adapted with
following disease categories (Drivas et al., 2015): JBTS: All patients
with hypoplasia of the cerebellar vermis and/or brain stem abnormalities
and often intellectual disability; JSRD: JBTS with extra-CNS
manifestations; Meckel-like syndrome (ML): lethality during the first
months or years, characterized by cystic kidney disease, CNS
malformation (typically DandyWalker malformation), polydactyly, and
hepatic fibrosis; MKS: Similar to ML but uniformly perinatal lethal with
occipital encephalocele being the predominant CNS malformation.