Philip Dean

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes

Charlie F Rowlands, Subin Choi, Sophie Allen, Zeid Kuzbari et autres

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Somatic and germline genetic testing pathways in haematological malignancies: Best practice consensus guidelines from the 2025 national meeting organised by UK Cancer Genetics Group ( UKCGG ), CanGene ‐ CanVar and the NHS England Haematological Oncology Working Group

Beverley Speight, Angela D. Hamblin, Polly Talley, O Tsoulaki et autres

Genomic technologies including next-generation sequencing (NGS) and arrays for cytogenetic anomalies are now standard of care in England for the diagnostic evaluation of patients with suspected haematological malignancies. Challenges remain in the management of potential germline findings as a result of NGS …

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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer

Sophie Allen, Charlie F Rowlands, Samantha Butler, Miranda Durkie et autres

PURPOSE: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This article quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH. METHODS: likelihood ratios (LLRs) as …

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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Agnieszka Bierżyńska, Katherine R. Bull, Sara Miellet, Philip Dean et autres

BACKGROUND: Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent reports describing NUP93 variants suggest these could be a significant cause of paediatric onset SRNS. We report NUP93 cases in …

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi, Sophie Allen et autres

PURPOSE: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice. METHODS: We used as a …

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Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome

Christopher Mark Watson, Philip Dean, Nick Camm, Jennifer Bates et autres

The diagnostic deployment of massively parallel short-read next-generation sequencing (NGS) has greatly improved genetic test availability, speed, and diagnostic yield, particularly for rare inherited disorders. Nonetheless, diagnostic approaches based on short-read sequencing have a poor ability to accurately detect gene conversion events. …

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Development of a multigene panel screening test for hypertriglyceridaemia using next generation sequencing

Paul F. DOWNIE, Julie Honeychurch, Philip Dean, Richard J. Whittington et autres

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Development of a multigene panel screening test for hypertriglyceridaemia using next generation sequencing

Paul F. DOWNIE, Julie Honeychurch, Philip Dean, Richard J. Whittington et autres

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Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierżyńska et autres

Background There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) …

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MAGI2 Mutations Cause Congenital Nephrotic Syndrome

Agnieszka Bierżyńska, Katrina Soderquest, Philip Dean, Elizabeth Colby et autres

Steroid–resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). …

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Familial hypercholesterolaemia (FH) in Wales is genetically heterogeneous

Kate Haralambos, Sharon D. Whatley, Borunendra N. Datta, Delyth Townsend et autres

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Inappropriate use of metronidazole in gastrointestinal surgery

C J H Ingoldby, Philip Dean, Peter Vowden, GEOFFREY R. GILES

Pharmacokinetic data suggest that current treatment regimens of metronidazole in abdominal surgery are not always appropriate. We have examined antibiotic concentrations during emergency and elective surgery using a specific and sensitive high pressure liquid chromatography assay. Serum and tissue concentrations were measured …

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