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| Severe microcephaly v2.286 | KIF14 | Eleanor Williams Tag for-review was removed from gene: KIF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.282 | KIF14 | Sarah Leigh commented on gene: KIF14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.281 | KIF14 |
Eleanor Williams Source Expert Review Green was added to KIF14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.69 | KIF14 | Arina Puzriakova Tag for-review tag was added to gene: KIF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.69 | KIF14 | Arina Puzriakova Classified gene: KIF14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.69 | KIF14 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 8 unrelated families reported (PMIDs: 28892560 and 29343805) with severe primary microcephaly due to different biallelic variants in the KIF14 gene. Kif14 knockout mice also exhibit primary microcephaly. Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) |
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| Severe microcephaly v2.69 | KIF14 | Arina Puzriakova Gene: kif14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.68 | KIF14 | Arina Puzriakova Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive, MIM# 617914 to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.19 | KIF14 |
Zornitza Stark gene: KIF14 was added gene: KIF14 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to 28892560; 29343805 Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, MIM# 617914 Review for gene: KIF14 was set to GREEN gene: KIF14 was marked as current diagnostic Added comment: At least 8 families reported. Microcephaly ranged from -3.6 to -11 SD. Sources: Expert list |
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