Activity
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| Limb disorders v6.10 | MAPKAPK5 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: MAPKAPK5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.10 | MAPKAPK5 | Sarah Leigh reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.9 | MAPKAPK5 |
Sarah Leigh Source NHS GMS was added to MAPKAPK5. Source Expert Review Green was added to MAPKAPK5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Limb disorders v5.7 | MAPKAPK5 |
Achchuthan Shanmugasundram changed review comment from: PMID:35575217 reported a 19-month-old boy of Italian descent with neurocardiofaciodigital syndrome (NCFD). He had global developmental delay and his digit abnormalities include short fingers, broad big toes and marked toenail hypoplasia/dysplasia. He was identified with a pathogenic homozygous nonsense variant in MAPKAPK5 gene (p.Arg394Ter). PMID:36581449 reported three unrelated individuals (one each from Pakistani, Palestinian - Arab and Egyptian descent) with NCFD. All of them had varying degrees of developmental delay and intellectual disability (one each with profound, severe and moderate ID), and digit abnormalities. They were all identified with homozygous MAPKAPK5 variant (p.Leu224Cysfs*4, p.Gln437Ter and p.Gly107Val ). This gene has been associated with relevant phenotypes in OMIM (MIM #619869) and Gene2Phenotype (with 'strong' rating on the DD panel); to: PMID:35575217 reported a 19-month-old boy of Italian descent with neurocardiofaciodigital syndrome (NCFD). He had global developmental delay and his digit abnormalities include short fingers, broad big toes and marked toenail hypoplasia/dysplasia. He was identified with a pathogenic homozygous nonsense variant in MAPKAPK5 gene (p.Arg394Ter). PMID:36581449 reported three unrelated individuals (one each from Pakistani, Palestinian - Arab and Egyptian descent) with NCFD. All of them had varying degrees of developmental delay and intellectual disability (one each with profound, severe and moderate ID), and digit abnormalities. They were all identified with homozygous MAPKAPK5 variant (p.Leu224Cysfs*4, p.Gln437Ter and p.Gly107Val ). This gene has been associated with relevant phenotypes in OMIM (MIM #619869) and Gene2Phenotype (with 'strong' rating on the DD panel). |
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| Limb disorders v5.7 | MAPKAPK5 | Achchuthan Shanmugasundram Classified gene: MAPKAPK5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.7 | MAPKAPK5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available (6 unrelated families), this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.7 | MAPKAPK5 | Achchuthan Shanmugasundram Gene: mapkapk5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.6 | MAPKAPK5 | Achchuthan Shanmugasundram Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism; Synpolydactyly to Neurocardiofaciodigital syndrome, OMIM:619869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.5 | MAPKAPK5 | Achchuthan Shanmugasundram Publications for gene: MAPKAPK5 were set to 33442026; 35575217; 36581449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.5 | MAPKAPK5 | Achchuthan Shanmugasundram Publications for gene: MAPKAPK5 were set to 33442026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.4 | MAPKAPK5 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.4 | MAPKAPK5 | Achchuthan Shanmugasundram reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35575217, 36581449; Phenotypes: Neurocardiofaciodigital syndrome, OMIM:619869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.41 | MAPKAPK5 | Arina Puzriakova Classified gene: MAPKAPK5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.41 | MAPKAPK5 | Arina Puzriakova Gene: mapkapk5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.40 | MAPKAPK5 |
Arina Puzriakova gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 33442026 Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism; Synpolydactyly Review for gene: MAPKAPK5 was set to AMBER Added comment: MAPKAPK5 is not yet associated with any phenotype in OMIM (last edited on 06/04/2016) but has a 'probable' disease confidence rating for 'MAPKAPK5-associated syndrome with synpolydactyly' in Gene2Phenotype. - PMID: 33442026 (2021) - 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers. Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. Rating Amber, awaiting further cases. Sources: Literature |
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