Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Classified gene: KIAA0556 as Amber List (moderate evidence)
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber and tagging for additional GMS expert review to determine whether there is sufficient evidence to indicate that the phenotype is prenatally relevant.

The main finding that may plausibly be detected prenatally is cerebellar hypoplasia / molar tooth sign. Other possible fetal scan findings include: PMIDs 26714646 and 32164589 each reference one case with cleft lip and palate (although the latter had dual molecular findings) and PMID 40428346 had post-axial polydactyly. Although molar-tooth sign was present in a number of cases, there is no indication that prenatal abnormalities were detected in published cases.
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Gene: kiaa0556 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.114 KIAA0556 Arina Puzriakova Phenotypes for gene: KIAA0556 were changed from Joubert syndrome 26, OMIM:616784 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Fetal anomalies v6.113 KIAA0556 Arina Puzriakova Publications for gene: KIAA0556 were set to 27245168; 26714646
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: KIAA0556.
Tag Q3_25_expert_review tag was added to gene: KIAA0556.
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova reviewed gene: KIAA0556: Rating: AMBER; Mode of pathogenicity: None; Publications: 26714646, 27245168, 31197031, 31197031, 36580738, 40725402, 40428346, 32164589, 30982090; Phenotypes: Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.104 KIAA0556 Eleanor Williams commented on gene: KIAA0556
Fetal anomalies v6.104 KIAA0556 Eleanor Williams Tag new-gene-name tag was added to gene: KIAA0556.
Fetal anomalies v4.36 KIAA0556 Achchuthan Shanmugasundram commented on gene: KIAA0556
Fetal anomalies v4.35 KIAA0556 Natalie Canham reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: ; Publications: 27245168, 26714646; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.34 KIAA0556 Achchuthan Shanmugasundram gene: KIAA0556 was added
gene: KIAA0556 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 27245168; 26714646
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, OMIM:616784