Activity

Filter

Cancel
Date Panel Item Activity
201 actions
Severe Paediatric Disorders v1.152 SPG7 Sarah Leigh Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe Paediatric Disorders v1.117 ALB Arina Puzriakova Mode of inheritance for gene: ALB was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.18 RS1 Louise Daugherty Mode of inheritance for gene: RS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MED12 Louise Daugherty Mode of inheritance for gene MED12 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MECP2 Louise Daugherty Mode of inheritance for gene MECP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 MBTPS2 Louise Daugherty Mode of inheritance for gene MBTPS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MAOA Louise Daugherty Mode of inheritance for gene MAOA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MAGT1 Louise Daugherty Mode of inheritance for gene MAGT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 LAMP2 Louise Daugherty Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 LAGE3 Louise Daugherty Mode of inheritance for gene LAGE3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 L1CAM Louise Daugherty Mode of inheritance for gene L1CAM was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 KDM6A Louise Daugherty Mode of inheritance for gene KDM6A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 KDM5C Louise Daugherty Mode of inheritance for gene KDM5C was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IQSEC2 Louise Daugherty Mode of inheritance for gene IQSEC2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 IL2RG Louise Daugherty Mode of inheritance for gene IL2RG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IL1RAPL1 Louise Daugherty Mode of inheritance for gene IL1RAPL1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IKBKG Louise Daugherty Mode of inheritance for gene IKBKG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IGSF1 Louise Daugherty Mode of inheritance for gene IGSF1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IDS Louise Daugherty Mode of inheritance for gene IDS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 HUWE1 Louise Daugherty Mode of inheritance for gene HUWE1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HSD17B10 Louise Daugherty Mode of inheritance for gene HSD17B10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HPRT1 Louise Daugherty Mode of inheritance for gene HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 HNRNPH2 Louise Daugherty Mode of inheritance for gene HNRNPH2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HDAC8 Louise Daugherty Mode of inheritance for gene HDAC8 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HCFC1 Louise Daugherty Mode of inheritance for gene HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 HCCS Louise Daugherty Mode of inheritance for gene HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GRIA3 Louise Daugherty Mode of inheritance for gene GRIA3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 GPR143 Louise Daugherty Mode of inheritance for gene GPR143 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GPC3 Louise Daugherty Mode of inheritance for gene GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 GLA Louise Daugherty Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GK Louise Daugherty Mode of inheritance for gene GK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 GJB1 Louise Daugherty Mode of inheritance for gene GJB1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GDI1 Louise Daugherty Mode of inheritance for gene GDI1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GATA1 Louise Daugherty Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 G6PD Louise Daugherty Mode of inheritance for gene G6PD was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FTSJ1 Louise Daugherty Mode of inheritance for gene FTSJ1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FRMPD4 Louise Daugherty Mode of inheritance for gene FRMPD4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FRMD7 Louise Daugherty Mode of inheritance for gene FRMD7 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FOXP3 Louise Daugherty Mode of inheritance for gene FOXP3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FMR1 Louise Daugherty Mode of inheritance for gene FMR1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FLNA Louise Daugherty Mode of inheritance for gene FLNA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FHL1 Louise Daugherty Mode of inheritance for gene FHL1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FGF16 Louise Daugherty Mode of inheritance for gene FGF16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FGD1 Louise Daugherty Mode of inheritance for gene FGD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FANCB Louise Daugherty Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 F9 Louise Daugherty Mode of inheritance for gene F9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 F8 Louise Daugherty Mode of inheritance for gene F8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 F11 Louise Daugherty Mode of inheritance for gene F11 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EMD Louise Daugherty Mode of inheritance for gene EMD was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 EIF2S3 Louise Daugherty Mode of inheritance for gene EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 EFNB1 Louise Daugherty Mode of inheritance for gene EFNB1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 EDA Louise Daugherty Mode of inheritance for gene EDA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 EBP Louise Daugherty Mode of inheritance for gene EBP was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 DMD Louise Daugherty Mode of inheritance for gene DMD was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 DLG3 Louise Daugherty Mode of inheritance for gene DLG3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 DKC1 Louise Daugherty Mode of inheritance for gene DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 DDX3X Louise Daugherty Mode of inheritance for gene DDX3X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 DCX Louise Daugherty Mode of inheritance for gene DCX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CYBB Louise Daugherty Mode of inheritance for gene CYBB was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CUL4B Louise Daugherty Mode of inheritance for gene CUL4B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 COX7B Louise Daugherty Mode of inheritance for gene COX7B was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 COL4A5 Louise Daugherty Mode of inheritance for gene COL4A5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CNKSR2 Louise Daugherty Mode of inheritance for gene CNKSR2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CLCN5 Louise Daugherty Mode of inheritance for gene CLCN5 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CLCN4 Louise Daugherty Mode of inheritance for gene CLCN4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CHRDL1 Louise Daugherty Mode of inheritance for gene CHRDL1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CHM Louise Daugherty Mode of inheritance for gene CHM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CFP Louise Daugherty Mode of inheritance for gene CFP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CDKL5 Louise Daugherty Mode of inheritance for gene CDKL5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CD40LG Louise Daugherty Mode of inheritance for gene CD40LG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FAM58A Louise Daugherty Mode of inheritance for gene FAM58A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CCDC22 Louise Daugherty Mode of inheritance for gene CCDC22 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CASK Louise Daugherty Mode of inheritance for gene CASK was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CACNA1F Louise Daugherty Mode of inheritance for gene CACNA1F was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 BTK Louise Daugherty Mode of inheritance for gene BTK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 BRWD3 Louise Daugherty Mode of inheritance for gene BRWD3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 BGN Louise Daugherty Mode of inheritance for gene BGN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 BCOR Louise Daugherty Mode of inheritance for gene BCOR was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 BCAP31 Louise Daugherty Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AVPR2 Louise Daugherty Mode of inheritance for gene AVPR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ATRX Louise Daugherty Mode of inheritance for gene ATRX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ATP7A Louise Daugherty Mode of inheritance for gene ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ATP6AP2 Louise Daugherty Mode of inheritance for gene ATP6AP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ATP6AP1 Louise Daugherty Mode of inheritance for gene ATP6AP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ARX Louise Daugherty Mode of inheritance for gene ARX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ARSE Louise Daugherty Mode of inheritance for gene ARSE was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ARHGEF9 Louise Daugherty Mode of inheritance for gene ARHGEF9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AR Louise Daugherty Mode of inheritance for gene AR was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AP1S2 Louise Daugherty Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ANOS1 Louise Daugherty Mode of inheritance for gene ANOS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AMMECR1 Louise Daugherty Mode of inheritance for gene AMMECR1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AMER1 Louise Daugherty Mode of inheritance for gene AMER1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 AMELX Louise Daugherty Mode of inheritance for gene AMELX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ALG13 Louise Daugherty Mode of inheritance for gene ALG13 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ALB Louise Daugherty Mode of inheritance for gene ALB was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ALAS2 Louise Daugherty Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AIFM1 Louise Daugherty Mode of inheritance for gene AIFM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AFF2 Louise Daugherty Mode of inheritance for gene AFF2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ACSL4 Louise Daugherty Mode of inheritance for gene ACSL4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ABCD1 Louise Daugherty Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ABCB7 Louise Daugherty Mode of inheritance for gene ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.16 MID1 Louise Daugherty Mode of inheritance for gene: MID1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.12 MUTYH Louise Daugherty reviewed gene: MUTYH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MUT Louise Daugherty edited their review of gene: MUT: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MMUT; Recommended initial gene rating: Green List (high evidence); Phenotypes: Methylmalonic aciduria, mut(0) type, 251000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 MUTYH Louise Daugherty Publications for gene MUTYH were updated from to 30847515
Severe Paediatric Disorders v0.11 MUT Louise Daugherty Publications for gene MUT were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS6KA3 Louise Daugherty Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 RPL10 Louise Daugherty Mode of inheritance for gene RPL10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 RPGR Louise Daugherty Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 RLIM Louise Daugherty Mode of inheritance for gene RLIM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 RBM10 Louise Daugherty Mode of inheritance for gene RBM10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 RAB39B Louise Daugherty Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PRPS1 Louise Daugherty Mode of inheritance for gene PRPS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PQBP1 Louise Daugherty Mode of inheritance for gene PQBP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 POU3F4 Louise Daugherty Mode of inheritance for gene POU3F4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PORCN Louise Daugherty Mode of inheritance for gene PORCN was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 POLA1 Louise Daugherty Mode of inheritance for gene POLA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PLS3 Louise Daugherty Mode of inheritance for gene PLS3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PLP1 Louise Daugherty Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PIGA Louise Daugherty Mode of inheritance for gene PIGA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHKA2 Louise Daugherty Mode of inheritance for gene PHKA2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHKA1 Louise Daugherty Mode of inheritance for gene PHKA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHF8 Louise Daugherty Mode of inheritance for gene PHF8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHF6 Louise Daugherty Mode of inheritance for gene PHF6 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHEX Louise Daugherty Mode of inheritance for gene PHEX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PGK1 Louise Daugherty Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PDHA1 Louise Daugherty Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PCDH19 Louise Daugherty Mode of inheritance for gene PCDH19 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PAK3 Louise Daugherty Mode of inheritance for gene PAK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 OTC Louise Daugherty Mode of inheritance for gene OTC was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 OPHN1 Louise Daugherty Mode of inheritance for gene OPHN1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 OGT Louise Daugherty Mode of inheritance for gene OGT was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 OFD1 Louise Daugherty Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 OCRL Louise Daugherty Mode of inheritance for gene OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NYX Louise Daugherty Mode of inheritance for gene NYX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NSDHL Louise Daugherty Mode of inheritance for gene NSDHL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NR0B1 Louise Daugherty Mode of inheritance for gene NR0B1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NONO Louise Daugherty Mode of inheritance for gene NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NLGN3 Louise Daugherty Mode of inheritance for gene NLGN3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NHS Louise Daugherty Mode of inheritance for gene NHS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NEXMIF Louise Daugherty Mode of inheritance for gene NEXMIF was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NDUFB11 Louise Daugherty Mode of inheritance for gene NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NDUFA1 Louise Daugherty Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NDP Louise Daugherty Mode of inheritance for gene NDP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NAA10 Louise Daugherty Mode of inheritance for gene NAA10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 MTM1 Louise Daugherty Mode of inheritance for gene MTM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 MSN Louise Daugherty Mode of inheritance for gene MSN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 MSL3 Louise Daugherty Mode of inheritance for gene MSL3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 MUT Louise Daugherty Mode of inheritance for gene MUT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.10 MUT Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
Severe Paediatric Disorders v0.9 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.9 MUT Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
Severe Paediatric Disorders v0.9 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.9 MUT Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
Severe Paediatric Disorders v0.8 MUTYH Louise Daugherty Added phenotypes Lipoma, somatic; Adrenal adenoma, somatic; Multiple endocrine neoplasia 1, 131100; Parathyroid adenoma, somatic; Carcinoid tumor of lung; Angiofibroma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.8 MUT Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
Severe Paediatric Disorders v0.8 MUTYH Louise Daugherty Mode of inheritance for gene MUTYH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.8 RB1 Louise Daugherty Mode of inheritance for gene RB1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1
Severe Paediatric Disorders v0.8 ZNF711 Louise Daugherty Mode of inheritance for gene ZNF711 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
Severe Paediatric Disorders v0.8 ZIC3 Louise Daugherty Mode of inheritance for gene ZIC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes VACTERL association, X-linked, 314390; Heterotaxy, visceral, 1, X-linked, 306955; Congenital heart defects, nonsyndromic, 1, X-linked, 306955 for gene: ZIC3
Severe Paediatric Disorders v0.8 ZDHHC9 Louise Daugherty Mode of inheritance for gene ZDHHC9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9
Severe Paediatric Disorders v0.8 ZC4H2 Louise Daugherty Mode of inheritance for gene ZC4H2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Wieacker-Wolff syndrome, 314580 for gene: ZC4H2
Severe Paediatric Disorders v0.8 XIAP Louise Daugherty Mode of inheritance for gene XIAP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lymphoproliferative syndrome, X-linked, 2, 300635 for gene: XIAP
Severe Paediatric Disorders v0.8 WDR45 Louise Daugherty Mode of inheritance for gene WDR45 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.8 WAS Louise Daugherty Mode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.8 VMA21 Louise Daugherty Mode of inheritance for gene VMA21 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Severe Paediatric Disorders v0.8 USP9X Louise Daugherty Mode of inheritance for gene USP9X was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked 99, syndromic, female-restricted, 300968; Mental retardation, X-linked 99, 300919 for gene: USP9X
Severe Paediatric Disorders v0.8 UPF3B Louise Daugherty Mode of inheritance for gene UPF3B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 for gene: UPF3B
Severe Paediatric Disorders v0.8 UBE2A Louise Daugherty Mode of inheritance for gene UBE2A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked syndromic, Nascimento-type, 300860 for gene: UBE2A
Severe Paediatric Disorders v0.8 UBA1 Louise Daugherty Mode of inheritance for gene UBA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 for gene: UBA1
Severe Paediatric Disorders v0.8 TSPAN7 Louise Daugherty Mode of inheritance for gene TSPAN7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked 58, 300210 for gene: TSPAN7
Severe Paediatric Disorders v0.8 TRAPPC2 Louise Daugherty Mode of inheritance for gene TRAPPC2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
Severe Paediatric Disorders v0.8 TIMM8A Louise Daugherty Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Severe Paediatric Disorders v0.8 THOC2 Louise Daugherty Mode of inheritance for gene THOC2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
Severe Paediatric Disorders v0.8 TBX22 Louise Daugherty Mode of inheritance for gene TBX22 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.8 TAZ Louise Daugherty Mode of inheritance for gene TAZ was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Barth syndrome, 302060 for gene: TAZ
Severe Paediatric Disorders v0.8 TAF1 Louise Daugherty Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked, syndromic 33, 300966; Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Severe Paediatric Disorders v0.8 SYP Louise Daugherty Mode of inheritance for gene SYP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked 96, 300802 for gene: SYP
Severe Paediatric Disorders v0.8 SYN1 Louise Daugherty Mode of inheritance for gene SYN1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.8 STS Louise Daugherty Mode of inheritance for gene STS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.8 STAG2 Louise Daugherty Mode of inheritance for gene STAG2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mullegama-Klein-Martinez syndrome, 301022 for gene: STAG2
Severe Paediatric Disorders v0.8 SSR4 Louise Daugherty Mode of inheritance for gene SSR4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4
Severe Paediatric Disorders v0.8 SRY Louise Daugherty Mode of inheritance for gene SRY was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes 46XX sex reversal 1, 400045; 46XY sex reversal 1, 400044 for gene: SRY
Severe Paediatric Disorders v0.8 SOX3 Louise Daugherty Mode of inheritance for gene SOX3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
Severe Paediatric Disorders v0.8 SMS Louise Daugherty Mode of inheritance for gene SMS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 for gene: SMS
Severe Paediatric Disorders v0.8 SMPX Louise Daugherty Mode of inheritance for gene SMPX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Deafness, X-linked 4, 300066 for gene: SMPX
Severe Paediatric Disorders v0.8 SMC1A Louise Daugherty Mode of inheritance for gene SMC1A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A
Severe Paediatric Disorders v0.8 SLC9A6 Louise Daugherty Mode of inheritance for gene SLC9A6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.8 SLC6A8 Louise Daugherty Mode of inheritance for gene SLC6A8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 for gene: SLC6A8
Severe Paediatric Disorders v0.8 SLC35A2 Louise Daugherty Mode of inheritance for gene SLC35A2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Congenital disorder of glycosylation, type IIm, 300896 for gene: SLC35A2
Severe Paediatric Disorders v0.8 SLC16A2 Louise Daugherty Mode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
Severe Paediatric Disorders v0.8 SH2D1A Louise Daugherty Mode of inheritance for gene SH2D1A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lymphoproliferative syndrome, X-linked, 1, 308240 for gene: SH2D1A
Severe Paediatric Disorders v0.7 MUT Louise Daugherty commented on gene: MUT
Severe Paediatric Disorders v0.7 MUTYH Louise Daugherty Source Next Generation Children Project was added to MUTYH.
Severe Paediatric Disorders v0.7 MUT Louise Daugherty Source Next Generation Children Project was added to MUT.
Severe Paediatric Disorders v0.6 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Severe Paediatric Disorders v0.5 MUTYH Louise Daugherty Source Expert Review Red was added to MUTYH.
Severe Paediatric Disorders v0.5 MUT Louise Daugherty Source Expert Review Green was added to MUT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 MUTYH Louise Daugherty gene: MUTYH was added
gene: MUTYH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MUTYH was set to
Severe Paediatric Disorders v0.4 MUT Louise Daugherty gene: MUT was added
gene: MUT was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MUT was set to