| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| CAKUT v1.111 | EXOC3L2 | Rebecca Foulger Tag watchlist tag was added to gene: EXOC3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.111 | EXOC3L2 | Rebecca Foulger Classified gene: EXOC3L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.111 | EXOC3L2 | Rebecca Foulger Added comment: Comment on list classification: Agreed by Helen Brittain (Genomics England clinical team) that Amber rating is appropriate here: only one case that didn't lead to fetal demise. Added 'watchlist' tag awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.111 | EXOC3L2 | Rebecca Foulger Gene: exoc3l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.76 | EXOC3L2 | Rebecca Foulger Classified gene: EXOC3L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.76 | EXOC3L2 | Rebecca Foulger Gene: exoc3l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.75 | EXOC3L2 | Rebecca Foulger Classified gene: EXOC3L2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.75 | EXOC3L2 | Rebecca Foulger Added comment: Comment on list classification: Gene was added to panel and rated Green by Chirag Patel. Updated rating from Grey to Amber. Most reported cases are from fetuses (e.g. PMID: 27894351) and therefore EXOC3L2 is more appropriate on Fetal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.75 | EXOC3L2 | Rebecca Foulger Gene: exoc3l2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.74 | EXOC3L2 | Rebecca Foulger commented on gene: EXOC3L2: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.74 | EXOC3L2 | Rebecca Foulger commented on gene: EXOC3L2: PMID: 28749478: Shamseldin et al., 2018 performed exome sequencing as part of molecular autopsy in a cohort of 44 families with at least one death or lethal fetal malformation. They report one fetus with a biallelic EXOC3L2 variant and a phenotype similar to Meckel-Gruber syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.74 | EXOC3L2 | Rebecca Foulger commented on gene: EXOC3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.74 | EXOC3L2 | Rebecca Foulger Publications for gene: EXOC3L2 were set to PMID: 30327448, 28749478, 27894351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | EXOC3L2 |
chirag patel gene: EXOC3L2 was added gene: EXOC3L2 was added to CAKUT. Sources: Literature Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to PMID: 30327448, 28749478, 27894351 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; renal dysplasia; bone marrow failure Review for gene: EXOC3L2 was set to GREEN Added comment: Four individuals from two unrelated families with brain, kidney and bone marrow abnormalities; another described as part of fetal autopsy series, and another in a ciliopathy cohort. Sources: Literature |
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