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| Fetal anomalies v1.836 | KIF14 | Arina Puzriakova Tag for-review was removed from gene: KIF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | KIF14 | Arina Puzriakova commented on gene: KIF14: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | KIF14 |
Arina Puzriakova Source Expert Review Green was added to KIF14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.144 | KIF14 | Arina Puzriakova Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.143 | KIF14 | Arina Puzriakova Classified gene: KIF14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.143 | KIF14 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 13 unrelated families reported with most cases being of fetal relevance. Phenotypes within the spectrum of fetal forms of ciliopathies (MKS) as well as severe primary microcephaly. Also supportive zebrafish model. Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) |
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| Fetal anomalies v1.143 | KIF14 | Arina Puzriakova Gene: kif14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.142 | KIF14 | Arina Puzriakova Tag for-review tag was added to gene: KIF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.142 | KIF14 | Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12; Microcephaly 20, primary to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761; Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.95 | KIF14 |
Rhiannon Mellis gene: KIF14 was added gene: KIF14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805 Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12; Microcephaly 20, primary Review for gene: KIF14 was set to GREEN gene: KIF14 was marked as current diagnostic Added comment: Two fetuses in one family with complex multiple congenital anomalies consistent with ciliopathy phenotype. (PMID: 24128419) Four more families with fetuses with similar phenotype (microcephaly, brain malformations and renal agenesis or hypodysplasia). Also functional (zebrafish) studies. Authors conclude that LOF variants cause the above syndromic phenotype while hypomorphic variants cause microcephaly without kidney defects. (PMID: 30388224) Four unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants (PMID: 28892560) Four more unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants. Two sibs from one of the families were fetuses with severe microcephaly detected prenatally and leading to termination of pregnancy. (PMID: 29343805) Sources: Literature |
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