David FitzPatrick

Exciting MRC HGU meeting exploring how information from developmental disorders can help us understand & treat adult degenerative disease. twitter.com/mrc_hgu/status…

Added to DDG2P: ASXL2: Developmental delay, macrocephaly, and dysmorphic features: monoallelic: loss of function PMID:28061364

Added to DDG2P: TBCE: Early-Onset Progressive Encephalopathy, Distal Spinal Muscular Atrophy: biallelic: all missense/in frame PMID:27666369

Added to DDG2P: TBCD: Early-Onset Neurodegenerative Encephalopathy: biallelic: loss of function PMID:27666374;27666370

Added to DDG2P: GLDN: Lethal arthroogryposis: biallelic: loss of function PMID:27616481

Added to DDG2P: MBOAT7: Intellectual Disability Accompanied by Epilepsy and Autistic Features: biallelic: loss of function PMID:27616480

Added to DDG2P: KIDINS220: Spastic paraplegia, intellectual disability, nystagmus, and obesity.: monoallelic: loss of function PMID:27005418

Added to DDG2P: EBF3: Intellectual Disability, Ataxia, and Facial Dysmorphism: monoallelic: loss of function PMID:28017370;28017373;28017372

Added to DDG2P: FGF12: EPILEPTIC ENCEPHALOPATHY: monoallelic: activating PMID:27830185;27872899;27164707

Added to DDG2P: NAXE: Lethal Neurometabolic Disorder of Early Childhood: biallelic: loss of function PMID:27616477

Added to DDG2P: SLC25A4: Severe Early-Onset Mitochondr Disease, Loss of mtDNA Copy Number: monoallelic: all missense/in frame PMID:27693233

Added to DDG2P: ATAD3A: Dev delay, hypotonia, optic atr, axon neuropat, hypertroph cardiomyopathy: biallelic: loss of function PMID:27640307

Added to DDG2P: GRIN2D: Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers: monoallelic: activating PMID:27616483

DDG2P Current Status: 1942 gene-disease pairs as confirmed or probable of which: 651 are monoallelic; 1070 are biallelic; 159 hemizygous

Added to DDG2P: SLC1A2; EPILEPTIC ENCEPHALOPATHY; monoallelic; all missense/in frame; PMID 27476654

Added to DDG2P: ELMO2; Intraosseous Vascular Malformation; biallelic; loss of function; PMID 27476657

Added to DDG2P: IARS; IUGR, Intellectual Disability, Musc Hypotonia, and Infantile Hepatopathy; biallelic; loss of function; PMID 27426735

Added to DDG2P: GNA14; Congenital vascular tumours; mosaic; activating; PMID 27476652

Added to DDG2P: TTC25; Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization; biallelic; loss of function; PMID 27486780

Added to DDG2P: DNAJB13; Primary Ciliary Dyskinesia and Male Infertility; biallelic; loss of function; PMID 27486783