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Fetal anomalies v6.152 CCDC88A Arina Puzriakova Added phenotypes PEHO syndrome-like, OMIM:617507 for gene: CCDC88A
Fetal anomalies v6.150 CCDC88A Arina Puzriakova edited their review of gene: CCDC88A: Changed rating: GREEN
Fetal anomalies v6.149 CCDC88A Arina Puzriakova commented on gene: CCDC88A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 CCDC88A Arina Puzriakova commented on gene: CCDC88A
Fetal anomalies v6.147 CCDC88A Stephanie Allen reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37798908, 39334473, 26917597, 39675783, 40401444, 30392057; Phenotypes: PEHO syndrome-like, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CCDC88A Arina Puzriakova gene: CCDC88A was added
gene: CCDC88A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.836 CCDC88C Arina Puzriakova Tag for-review was removed from gene: CCDC88C.
Fetal anomalies v1.836 CCDC8 Arina Puzriakova Tag for-review was removed from gene: CCDC8.
Fetal anomalies v1.836 CCDC88C Arina Puzriakova commented on gene: CCDC88C: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC8 Arina Puzriakova commented on gene: CCDC8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 CCDC88C Arina Puzriakova Source Expert Review Green was added to CCDC88C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC8 Arina Puzriakova Source Expert Review Green was added to CCDC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.337 CCDC88C Arina Puzriakova Phenotypes for gene: CCDC88C were changed from HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE to Hydrocephalus, congenital, 1, OMIM:236600; Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360
Fetal anomalies v1.336 CCDC8 Arina Puzriakova Phenotypes for gene: CCDC8 were changed from THREE M SYNDROME 3 to 3-M syndrome 3, OMIM:614205; 3M syndrome 3, MONDO:0013627
Fetal anomalies v1.334 CCDC88C Arina Puzriakova Classified gene: CCDC88C as Amber List (moderate evidence)
Fetal anomalies v1.334 CCDC88C Arina Puzriakova Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.333 CCDC88C Arina Puzriakova Tag for-review tag was added to gene: CCDC88C.
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Classified gene: CCDC8 as Amber List (moderate evidence)
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Gene: ccdc8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.332 CCDC8 Arina Puzriakova Tag for-review tag was added to gene: CCDC8.
Fetal anomalies v1.229 CCDC8 Rhiannon Mellis reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 3, 614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CCDC88C Rhiannon Mellis reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus, congenital, 1, 236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.9 CCDC88C Rebecca Foulger reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC8 Rebecca Foulger reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 CCDC88C Rebecca Foulger gene: CCDC88C was added
gene: CCDC88C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 CCDC8 Rebecca Foulger gene: CCDC8 was added
gene: CCDC8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3