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| Arthrogryposis v3.154 | KIDINS220 | Ivone Leong Tag Q2_21_rating was removed from gene: KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.154 | KIDINS220 | Sarah Leigh commented on gene: KIDINS220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.153 | KIDINS220 |
Ivone Leong Source Expert Review Green was added to KIDINS220. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Arthrogryposis v3.143 | KIDINS220 | Arina Puzriakova Added comment: Comment on phenotypes: Added relevant phenotype now listed in OMIM (MIM# 619501) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.143 | KIDINS220 | Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from brain ventriculomegaly and limb contractures to Ventriculomegaly and arthrogryposis, OMIM:619501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.76 | KIDINS220 | Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.76 | KIDINS220 | Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.76 | KIDINS220 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported plus a supportive mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.76 | KIDINS220 | Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.75 | KIDINS220 |
Eleanor Williams gene: KIDINS220 was added gene: KIDINS220 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169 Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures Review for gene: KIDINS220 was set to GREEN Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant. PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations. Sources: Literature |
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