| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Renal ciliopathies v1.35 | KIF14 | Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.25 | KIF14 | Eleanor Williams Tag watchlist tag was added to gene: KIF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.25 | KIF14 | Eleanor Williams commented on gene: KIF14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.16 | KIF14 | Catherine Snow Classified gene: KIF14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.16 | KIF14 | Catherine Snow Gene: kif14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.12 | KIF14 |
Catherine Snow changed review comment from: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 and its broad phenotypes.; to: PMID:30388224 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants in KIF14 and had phenotypes within the spectrum of fetal forms of ciliopathies, Meckel–Gruber syndrome (MKS) - (intrauterine growth restriction, cystic kidneys and brain developmental defects, including cerebellar hypoplasia and vermis agenesis) The paper also includes functional work on Zebrafish and reported that in vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 is relevant for this panel? |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.12 | KIF14 |
Catherine Snow changed review comment from: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system.; to: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 and its broad phenotypes. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.12 | KIF14 | Catherine Snow reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30388224, 28892560, 29343805; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | KIF14 | Zornitza Stark reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388224; Phenotypes: Microcephaly, renal hypo/dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v0.1 | KIF14 |
Eleanor Williams gene: KIF14 was added gene: KIF14 was added to Renal ciliopathies. Sources: Other,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Orphanet Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to 24128419 Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||