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Fetal anomalies v0.4307 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Fetal anomalies v0.4307 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4307 CCDC88A Zornitza Stark Classified gene: CCDC88A as Amber List (moderate evidence)
Fetal anomalies v0.4307 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4266 CCDC88A Ain Roesley gene: CCDC88A was added
gene: CCDC88A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC88A were set to 30392057; 26917597
Phenotypes for gene: CCDC88A were set to PEHO syndrome-like (MIM#617507)
Review for gene: CCDC88A was set to AMBER
gene: CCDC88A was marked as current diagnostic
Added comment: PMID: 26917597;
1x family with 3 affecteds microcephaly (birth OFC -3 - -4 SD)

total of 2 consanguineous families with 5 affecteds and functional studies of KO mice
Sources: Literature
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Fetal anomalies v0.1179 CCDC88C Zornitza Stark Classified gene: CCDC88C as Green List (high evidence)
Fetal anomalies v0.1179 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Publications for gene: CCDC8 were set to
Fetal anomalies v0.1177 CCDC8 Zornitza Stark Classified gene: CCDC8 as Green List (high evidence)
Fetal anomalies v0.1177 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1176 CCDC8 Zornitza Stark changed review comment from: Intellect typically normal; to: 5 unrelated individuals described with the condition; two different homozygous variants described in three individuals. IUGR.
Fetal anomalies v0.1176 CCDC8 Zornitza Stark edited their review of gene: CCDC8: Changed rating: GREEN
Fetal anomalies v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360; Hydrocephalus, congenital, 1, OMIM:236600
Fetal anomalies v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to 3M syndrome 3, MONDO:0013627; 3-M syndrome 3, OMIM:614205