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| Paediatric disorders - additional genes v2.7 | NHLRC2 |
Arina Puzriakova Tag Q2_22_rating was removed from gene: NHLRC2. Tag Q2_22_expert_review was removed from gene: NHLRC2. |
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| Paediatric disorders - additional genes v2.7 | NHLRC2 | Arina Puzriakova reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.6 | NHLRC2 |
Arina Puzriakova Source Expert Review Green was added to NHLRC2. Source NHS GMS was added to NHLRC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v1.96 | NHLRC2 | Eleanor Williams Tag Q2_22_expert_review tag was added to gene: NHLRC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.96 | NHLRC2 |
Eleanor Williams Tag Q2_22_rating tag was added to gene: NHLRC2. Tag gene-checked tag was added to gene: NHLRC2. |
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| Paediatric disorders - additional genes v1.70 | NHLRC2 | Eleanor Williams Classified gene: NHLRC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.70 | NHLRC2 | Eleanor Williams Added comment: Comment on list classification: Changing the rating of this gene from red to amber, but with a green rating recommendation for GMS review. 3 cases reported, plus mouse and zebrafish models and functional data from patient fibroblasts. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.70 | NHLRC2 | Eleanor Williams Gene: nhlrc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.69 | NHLRC2 |
Eleanor Williams gene: NHLRC2 was added gene: NHLRC2 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC2 were set to 29423877; 32435055 Phenotypes for gene: NHLRC2 were set to FINCA syndrome OMIM:618278 Review for gene: NHLRC2 was set to GREEN Added comment: PMID: 29423877 Uusimaa et al 2018 - report 3 patients from 2 unrelated non-consanguineous Finnish families in which the children were born asymptomatic but by 2 months of age they had developed a progressive multi-organ disorder. The main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. All three patients were found using WES to be compound heterozygous for NM_198514:c.442G>T, p.Asp148Tyr and c.601_602delAG, p.Arg201GlyfsTer6. Segregation data for both families is provided. The family history of the two families, traced back 7–9 generations, showed that they did not have common ancestors. Both variants are rare in both Finnish (Sequencing Initiative Suomi - 0.003 and 0.0001 respectively) and non-Finnish populations (Exac). Patient fibroblasts expressed only mRNA with the c.442G>T missense variant, and at low levels. Development of Nhlrc2 null mice stalled before the morula stage. Morpholino knockdown of nhlrc2 in zebrafish embryos showed that nhlrc2 has a role in cellular integrity of the central nervous system during development. PMID: 32435055 - Brodsky et al 2020 - report a 2 year old Ukranian patient with FINCA syndrome who was found by WES to have compound heterozygous variants in NHLRC2 (c.442T>G, p.D148Y and c.428C>A, p.H143P). The c.428C>A variant is not found in the gnomAD database. Each parent was a carrier for one of the variants. Sources: Literature |
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