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Limb disorders v2.69 | KYNU | Eleanor Williams Phenotypes for gene: KYNU were changed from Vertebral, cardiac, renal, and limb defects syndrome 2, 617661; hand hyperphalangism to Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661; hand hyperphalangism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.68 | KYNU | Eleanor Williams Tag for-review was removed from gene: KYNU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | KYNU | Eleanor Williams commented on gene: KYNU: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.66 | KYNU |
Eleanor Williams Source Expert Review Green was added to KYNU. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v2.15 | KYNU | Arina Puzriakova Classified gene: KYNU as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.15 | KYNU | Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.15 | KYNU | Arina Puzriakova Gene: kynu has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.8 | KYNU | Eleanor Williams Tag for-review tag was added to gene: KYNU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.8 | KYNU | Eleanor Williams Classified gene: KYNU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.8 | KYNU | Eleanor Williams Gene: kynu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.7 | KYNU | Eleanor Williams Classified gene: KYNU as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.7 | KYNU | Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to green as 3 unrelated cases have been reported with a distinct hand hyperphalangism phenotype and biallelic or compound heterozygous variants, and segregation as expected in the family in 2 cases (3rd could not be established). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.7 | KYNU | Eleanor Williams Gene: kynu has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.6 | KYNU |
Eleanor Williams gene: KYNU was added gene: KYNU was added to Limb disorders. Sources: Literature Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 31923704 Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2, 617661; hand hyperphalangism Review for gene: KYNU was set to GREEN Added comment: KYNU is associated with Vertebral, cardiac, renal, and limb defects syndrome 2 #617661 (AR) in OMIM. PMID: 31923704 Ehmke et al 2020 - report 3 unrelated individuals with a ballelic or compound het (a deletion of axons 1-8 and a missense variant) in KYNU and a multisystemic syndrome with hand hyperphalangism resembling Catel-Manzke syndrome. Other features included heart defects and developmental delay (mild in 2 cases) and mild vertebral defects. Microretrognathia was observed in 2 patients consistent with Catel-Manzke syndrome. Two affected individuals tested had elevated urine xanthurenic acid. PMID: 28792876 Shi et al 2017 - report 2 families where the proband is homozygous or compound heterozygous for loss of function variants in KUNU. The hyperphalgnism described by Ehmke et al was NOT seen, although one patient had talipes, syndactyly and rhizomelia and the other had shortened long bones. Both had cardiac, renal and defects in vertebral segmentation. Sources: Literature |