Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABI2 gene ABI2 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual disability, MONDO:0001071;neurodevelopmental disorder, MONDO:0700092 28397838;39774290;40475134 False 2 50;0;50 44.654 False ENSG00000138443 ENSG00000138443 HGNC:24011 ACADSB gene ACADSB Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria, 610006 False 2 0;100;0 44.654 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475 False 2 100;0;0 44.654 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Victorian Clinical Genetics Services;Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000075239 ENSG00000075239 HGNC:93 ACP5 gene ACP5 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation, 607944 False 2 100;0;0 44.654 False ENSG00000102575 ENSG00000102575 HGNC:124 ACTA1 gene ACTA1 Expert Review Amber;Expert Review Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal CMD with rigid spine;Nemaline myopathy 3, autosomal dominant or recessive 161800;Myopathy, congenital, with fiber-type disproportion 1 255310 24642510;25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele);25913210;26436962;20179953 False 2 0;50;50 44.654 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTA2 gene ACTA2 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic aneurysm, familial thoracic 6, 611788;Multisystemic; smooth muscle dysfunction syndrome, 613834;Moyamoya disease 5, 614042 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000107796 ENSG00000107796 HGNC:130 ACVR1 gene ACVR1 Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fibrodysplasia ossificans progressiva 135100 False 2 0;33;67 44.654 False ENSG00000115170 ENSG00000115170 HGNC:171 ADA gene ADA Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, OMIM:102700;Adenosine deaminase deficiency, partial, OMIM:102700 False 2 100;0;0 44.654 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAMTS10 gene ADAMTS10 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, MIM#277600 False 2 0;100;0 44.654 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADCY5 gene ADCY5 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651;neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211 28511835;33704598;34631954 False 2 50;25;25 44.654 False ENSG00000173175 ENSG00000173175 HGNC:236 ADPRHL2 gene ADPRHL2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 30100084;30401461 False 2 0;100;0 44.654 False ENSG00000116863 ENSG00000116863 HGNC:21304 AGAP1 gene AGAP1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy 31700678;25666757;30472483 False 2 0;100;0 44.654 False ENSG00000157985 ENSG00000157985 HGNC:16922 AGMO gene AGMO Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;epilepsy;developmental delay 31555905;27000257 False 2 100;0;0 44.654 False ENSG00000187546 ENSG00000187546 HGNC:33784 AGPAT3 gene AGPAT3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 37821758 False 2 0;100;0 44.654 False ENSG00000160216 ENSG00000160216 HGNC:326 AGPS gene AGPS Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, 600121 7807941;11152660;11152660;21990100 False 2 20;60;20 44.654 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, 259900 False 2 100;0;0 44.654 False ENSG00000172482 ENSG00000172482 HGNC:341 AIMP2 gene AIMP2 Expert Review Amber;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 17,OMIM:618006;leukodystrophy, hypomyelinating, 17, MONDO:0054817;neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis 29215095;26795593;35140751;35568357;38374194 False 2 50;50;0 44.654 False ENSG00000106305 ENSG00000106305 HGNC:20609 AIPL1 gene AIPL1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 4, 604393;Retinitis pigmentosa, juvenile, 604393;Cone-rod dystrophy, 604393 False 2 100;0;0 44.654 False ENSG00000129221 ENSG00000129221 HGNC:359 AIRE gene AIRE Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300;autoimmune polyendocrine syndrome type 1, MONDO:0009411 25529582 False 2 100;0;0 44.654 False ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal NA False 2 100;0;0 44.654 False ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2, 235555 False 2 100;0;0 44.654 False ENSG00000122787 ENSG00000122787 HGNC:388 AKT1 gene AKT1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 6 OMIM:164730 25529582 False 2 50;50;0 44.654 False Other - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 ALAD gene ALAD Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic, 612740; {Lead poisoning, susceptibility to}, 612740 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000148218 ENSG00000148218 HGNC:395 ALDOA gene ALDOA Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000149925 ENSG00000149925 HGNC:414 ALG13 gene ALG13 Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "?Congenital disorder of glycosylation, type Is 300884;Epileptic encephalopathy, early infantile, 36 300884" 27604308;25732998;22492991 False 2 0;0;0 44.654 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG14 gene ALG14 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Intellectual disability 30221345;23404334;28733338 False 2 100;0;0 44.654 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates 616228;Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation);?Congenital disorder of glycosylation, type Ii 607906 12684507;23404334 False 2 0;0;100 44.654 False ENSG00000119523 ENSG00000119523 HGNC:23159 ALPL gene ALPL Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia, adult, OMIM:146300;Hypophosphatasia, childhood, OMIM:241510;Hypophosphatasia, infantile, OMIM:241500;Odontohypophosphatasia, OMIM:146300 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000162551 ENSG00000162551 HGNC:438 ALS2 gene ALS2 Expert Review Amber;UKGTN;Literature;Illumina TruGenome Clinical Sequencing Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Spastic paralysis, infantile onset ascending, OMIM:607225 11586297; 20018642 False 2 67;33;0 44.654 False ENSG00000003393 ENSG00000003393 HGNC:443 ALX3 gene ALX3 Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Victorian Clinical Genetics Services;Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Parietal foramina;Parietal foramina 2, (AD), 609597;Frontonasal dysplasia 2, (AR), 613451 22140057;24668755;25529582;29681084;29215649 False 2 33;33;33 44.654 False ENSG00000052850 ENSG00000052850 HGNC:450 ANKS1B gene ANKS1B Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder, MONDO:0100038 31388001;38129387 False 2 50;50;0 44.654 False ENSG00000185046 ENSG00000185046 HGNC:24600 ANO5 gene ANO5 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000171714 ENSG00000171714 HGNC:27337 ANTXR1 gene ANTXR1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal {Hemangioma, capillary infantile, susceptibility to}, 602089; GAPO syndrome, 230740 False 2 100;0;0 44.654 False ENSG00000169604 ENSG00000169604 HGNC:21014 ANXA11 gene ANXA11 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, OMIM:619733;inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 34048612;36134701;36651622;40730020 False 2 100;0;0 44.654 False ENSG00000122359 ENSG00000122359 HGNC:535 AP1B1 gene AP1B1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781 31630788;31630791;33452671;33349978;32969855;35144013 False 2 25;75;0 44.654 False ENSG00000100280 ENSG00000100280 HGNC:554 AP2S1 gene AP2S1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorder 33057194 False 2 0;100;0 44.654 False ENSG00000042753 ENSG00000042753 HGNC:565 ARHGAP35 gene ARHGAP35 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorder 33057194 False 2 0;100;0 44.654 False ENSG00000160007 ENSG00000160007 HGNC:4591 ARHGEF40 gene ARHGEF40 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental delay 39838643 False 2 0;100;0 44.654 False ENSG00000165801 ENSG00000165801 HGNC:25516 ARL14EP gene ARL14EP Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 2 0;33;67 44.654 False ENSG00000152219 ENSG00000152219 HGNC:26798 ARMC4 gene ARMC4 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, 615451 False 2 100;0;0 44.654 False ENSG00000169126 ENSG00000169126 HGNC:25583 ASTN1 gene ASTN1 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 29706646;27431290;26539891;41544630 False 2 67;33;0 44.654 False ENSG00000152092 ENSG00000152092 HGNC:773 ATG12 gene ATG12 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;Hypoplasia of the corpus callosum, HP:0002079;Cerebellar hypoplasia, HP:0001321 41895291 False 2 100;0;0 44.654 False ENSG00000145782 ENSG00000145782 HGNC:588 ATG4D gene ATG4D Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 36765070 False 2 50;50;0 44.654 False ENSG00000130734 ENSG00000130734 HGNC:20789 ATOH1 gene ATOH1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Deafness, autosomal dominant 89 , OMIM:620284;hearing loss, autosomal dominant 89, MONDO:0859528;pontocerebellar hypoplasia, MONDO:0020135 9367153;21146598;33111345;35518571;41592563 False 2 100;0;0 44.654 False ENSG00000172238 ENSG00000172238 HGNC:797 ATP11A gene ATP11A Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder 34403372;39432785 False 2 0;100;0 44.654 False ENSG00000068650 ENSG00000068650 HGNC:13552 ATP5B gene ATP5B Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 0;100;0 44.654 False ENSG00000110955 ENSG00000110955 HGNC:830 ATP6AP1 gene ATP6AP1 Expert Review Amber;Expert list Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, MIM#300972 27231034 False 2 50;50;0 44.654 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP7A gene ATP7A Expert Review Amber;Expert;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, OMIM:309400;Occipital horn syndrome, OMIM:304150;Spinal muscular atrophy, distal, X-linked 3, OMIM:300489 False 2 0;100;0 44.654 False ENSG00000165240 ENSG00000165240 HGNC:869 ATXN2L gene ATXN2L Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Macrocephaly 33283965;33057194 False 2 0;100;0 44.654 False ENSG00000168488 ENSG00000168488 HGNC:31326 B3GALT6 gene B3GALT6 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, progeroid type, 2, 615349 False 2 100;0;0 44.654 False ENSG00000176022 ENSG00000176022 HGNC:17978 B4GALT1 gene B4GALT1 Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IId, OMIM:607091 11901181;21920538;30653653;32157688 False 2 0;40;60 44.654 False ENSG00000086062 ENSG00000086062 HGNC:924 BAIAP2 gene BAIAP2 Expert Review Amber;Other Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental and epileptic encephalopathy, MONDO:0100620;classic lissencephaly, MONDO:0015146 30696821;38149472;41133935 False 2 100;0;0 44.654 False ENSG00000175866 ENSG00000175866 HGNC:947 BCORL1 gene BCORL1 Expert Review Amber Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Shukla-Vernon syndrome, 301029 24123876;30941876 False 2 20;20;60 44.654 False ENSG00000085185 ENSG00000085185 HGNC:25657 BHLHE22 gene BHLHE22 Expert Review Amber;Literature Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 39502664 False 2 100;0;0 44.654 False ENSG00000180828 ENSG00000180828 HGNC:11963 BORCS5 gene BORCS5 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168;neurodevelopmental disorder, MONDO:0700092 27435318;40385417;40621786 False 2 100;0;0 44.654 False ENSG00000165714 ENSG00000165714 HGNC:17950 BRF2 gene BRF2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042;intellectual disability, MONDO:0001071 40229899;40781771 False 2 100;0;0 44.654 False ENSG00000104221 ENSG00000104221 HGNC:17298 BRSK1 gene BRSK1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092 41035394 False 2 0;100;0 44.654 False ENSG00000160469 ENSG00000160469 HGNC:18994 BSN gene BSN Expert Review Amber;Other Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 36600631;39616287;40393460 False 2 100;0;0 44.654 False ENSG00000164061 ENSG00000164061 HGNC:1117 BSND gene BSND Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000162399 ENSG00000162399 HGNC:16512 C16orf62 gene C16orf62 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal 3C/Ritscher-Schinzel-like syndrome 25434475;31712251 False 2 0;100;0 44.654 False ENSG00000103544 ENSG00000103544 HGNC:24641 C8orf37 gene C8orf37 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 64, 614500;Cone-rod dystrophy 16, 614500 False 2 100;0;0 44.654 False ENSG00000156172 ENSG00000156172 HGNC:27232 CACNA2D2 gene CACNA2D2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar atrophy with seizures and variable developmental delay, 618501 23339110;24358150;30410802;29997391;31402629;11487633;11756448;4177347;14660671;15331424 False 2 50;50;0 44.654 False ENSG00000007402 ENSG00000007402 HGNC:1400 CACNB4 gene CACNB4 NHS GMS;Expert Review Amber Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Episodic ataxia, type 5 613855; {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 32176688;25529582 False 2 20;20;60 44.654 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2G gene CAMK2G Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 59, 618522 26350204;24896178;23033978;30184290 False 2 0;25;75 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148660 ENSG00000148660 HGNC:1463 CAPZA2 gene CAPZA2 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown intellectual disability 32338762 False 2 0;100;0 44.654 False ENSG00000198898 ENSG00000198898 HGNC:1490 CARS2 gene CARS2 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27 616672 25361775;25787132;30139652;32571458;32348839 False 2 50;50;0 44.654 False ENSG00000134905 ENSG00000134905 HGNC:25695 CASQ1 gene CASQ1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;Expert Review Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 26136523;28895244;29039140;30258016;34908252;36514469 False 2 50;50;0 44.654 False ENSG00000143318 ENSG00000143318 HGNC:1512 CASR gene CASR Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypocalciuric hypercalcemia, type I, 145980 21667241; 27390877; False 2 50;50;0 44.654 False ENSG00000036828 ENSG00000036828 HGNC:1514 CCDC186 gene CCDC186 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal failure to thrive and developmental delay 33259146;28600779 False 2 0;100;0 44.654 False ENSG00000165813 ENSG00000165813 HGNC:24349 CCDC78 gene CCDC78 Expert Review Amber;NHS GMS;London South GLH;Expert;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, centronuclear, 4, OMIM:614807 22818856;25635128 False 2 29;43;29 44.654 False ENSG00000162004 ENSG00000162004 HGNC:14153 CCNK gene CCNK Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Intellectual developmental disorder with hypertelorism and distinctive facies, OMIM:618147;intellectual developmental disorder with hypertelorism and distinctive facies, MONDO:0029143 30122539;35063350;37597256;41101726 False 2 100;0;0 44.654 False ENSG00000090061 ENSG00000090061 HGNC:1596 CCT3 gene CCT3 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034;neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 39480921 False 2 100;0;0 44.654 False ENSG00000163468 ENSG00000163468 HGNC:1616 CCT8 gene CCT8 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CCT8-related neurodevelopmental disorder with brain abnormalities 39480921 False 2 0;100;0 44.654 False ENSG00000156261 ENSG00000156261 HGNC:1623 CD320 gene CD320 Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect, OMIM:613646;methylmalonic acidemia due to transcobalamin receptor defect, MONDO:0013341 20524213;22819238;23754956;27604308 False 2 0;100;0 44.654 False ENSG00000167775 ENSG00000167775 HGNC:16692 CD96 gene CD96 Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown C syndrome, 211750 17847009 False 2 0;100;0 44.654 False ENSG00000153283 ENSG00000153283 HGNC:16892 CDC42BPB gene CDC42BPB Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841;Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239 32031333;28263302;31785789;35586607;36344539 False 2 100;0;0 44.654 False ENSG00000198752 ENSG00000198752 HGNC:1738 CDKN1C gene CDKN1C Victorian Clinical Genetics Services;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted IMAGE syndrome, 614732;ntrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 25529582;22634751 False 2 67;33;0 44.654 False ENSG00000129757 ENSG00000129757 HGNC:1786 CELF4 gene CELF4 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40108438 False 2 50;50;0 44.654 False ENSG00000101489 ENSG00000101489 HGNC:14015 CELSR3 gene CELSR3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 38429302 False 2 100;0;0 44.654 False ENSG00000008300 ENSG00000008300 HGNC:3230 CEP295 gene CEP295 Expert Review Amber;Expert Review Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 11, OMIM:620767 38154379 False 2 50;50;0 44.654 False ENSG00000166004 ENSG00000166004 HGNC:29366 CEP63 gene CEP63 Expert Review Amber Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Seckel syndrome 6 614728; Developmental dyslexia 21983783; 26400686 False 2 0;100;0 44.654 False ENSG00000182923 ENSG00000182923 HGNC:25815 CHD1 gene CHD1 Expert Review Amber;Expert list Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pilarowski-Bjornsson syndrome, MIM#617682 28866611 False 2 100;0;0 44.654 False Other ENSG00000153922 ENSG00000153922 HGNC:1915 CHL1 gene CHL1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown verbal function and developmental delay 24896178; 26350204; 27708271; 27933663; 25451713 False 2 0;33;67 44.654 False ENSG00000134121 ENSG00000134121 HGNC:1939 CHRM1 gene CHRM1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability, MONDO:0001071;autism 34212451;31981491;12483218 False 2 0;100;0 44.654 False ENSG00000168539 ENSG00000168539 HGNC:1950 CHST14 gene CHST14 Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000169105 ENSG00000169105 HGNC:24464 CIAO1 gene CIAO1 Literature;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 2 100;0;0 44.654 False ENSG00000144021 ENSG00000144021 HGNC:14280 CLCN2 gene CLCN2 Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 23707145;26539602;28473625;31291907 False 2 100;0;0 44.654 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN7 gene CLCN7 Literature;Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 31155284 False 2 0;100;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 CNPY3 gene CNPY3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 60 (MIM 617929) 29394991;30237576 False 2 100;0;0 44.654 False ENSG00000137161 ENSG00000137161 HGNC:11968 CNTN1 gene CNTN1 NHS GMS;London South GLH;Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Compton-North, OMIM:612540 19026398;32779773 False 2 20;60;20 44.654 False ENSG00000018236 ENSG00000018236 HGNC:2171 COA3 gene COA3 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. False 2 50;50;0 44.654 False ENSG00000183978 ENSG00000183978 HGNC:24990 COASY gene COASY Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, 615643;Pontocerebellar hypoplasia, type 12, 618266 30089828;27021474;36495139 False 2 0;100;0 44.654 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG3 gene COG3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 44.654 False ENSG00000136152 ENSG00000136152 HGNC:18619 COG3 gene COG3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 44.654 False ENSG00000136152 ENSG00000136152 HGNC:18619 COL4A1 gene COL4A1 Expert Review Amber;NHS GMS;London South GLH;Expert Review Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773;autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726 32842921;28056338;22037604;21625620;18160688;20818663 False 2 40;40;20 44.654 False ENSG00000187498 ENSG00000187498 HGNC:2202 COPB1 gene COPB1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Baralle-Macken syndrome, OMIM:619255;Severe intellectual disability;Cataracts;Variable microcephaly 33632302 False 2 0;100;0 44.654 False ENSG00000129083 ENSG00000129083 HGNC:2231 COQ5 gene COQ5 Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 19377476;26350204;21937992;29044765;29044765;36266294;37599337;41199775 False 2 40;20;40 44.654 False ENSG00000110871 ENSG00000110871 HGNC:28722 COQ9 gene COQ9 Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX4I2 gene COX4I2 Expert Review Amber;London North GLH;NHS GMS;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 27604308;19268275;22592081 False 2 50;0;50 44.654 False ENSG00000131055 ENSG00000131055 HGNC:16232 COX7B gene COX7B Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000131174 ENSG00000131174 HGNC:2291 CPSF3 gene CPSF3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 35121750 False 2 0;100;0 44.654 False ENSG00000119203 ENSG00000119203 HGNC:2326 CRBN gene CRBN Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 2 607417 28143899;18414909 False 2 0;33;67 44.654 False ENSG00000113851 ENSG00000113851 HGNC:30185 CRMP1 gene CRMP1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 36511780;39758889 False 2 0;100;0 44.654 False ENSG00000072832 ENSG00000072832 HGNC:2365 CSTB gene CSTB London North GLH;NHS GMS;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 27604308 False 2 0;0;0 44.654 False ENSG00000160213 ENSG00000160213 HGNC:2482 CSTF2 gene CSTF2 Expert Review Amber Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, MONDO:0001071 26350204;32816001 False 2 0;40;60 44.654 False ENSG00000101811 ENSG00000101811 HGNC:2484 CTC1 gene CTC1 Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 22387016;22267198 False 2 25;75;0 44.654 False ENSG00000178971 ENSG00000178971 HGNC:26169 CTNND2 gene CTNND2 Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CTNND2-related neurodevelopmental disorder False 2 0;0;0 44.654 False ENSG00000169862 ENSG00000169862 HGNC:2516 CYP27A1 gene CYP27A1 Victorian Clinical Genetics Services;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis 213700 24442603;29484516 False 2 50;50;0 44.654 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal HEREDITARY SPASTIC PARAPLEGIA 23176821 False 2 20;60;20 44.654 False ENSG00000155016 ENSG00000155016 HGNC:20582 DALRD3 gene DALRD3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Developmental and epileptic encephalopathy 86, # 618910 32427860;39482881 False 2 0;100;0 44.654 False ENSG00000178149 ENSG00000178149 HGNC:25536 DAP3 gene DAP3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 7, OMIM:621101 39701103 False 2 0;100;0 44.654 False ENSG00000132676 ENSG00000132676 HGNC:2673 DCC gene DCC Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 28250456 False 2 20;60;20 44.654 False ENSG00000187323 ENSG00000187323 HGNC:2701 DCC gene DCC Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2 28250456 False 2 0;100;0 44.654 False ENSG00000187323 ENSG00000187323 HGNC:2701 DDOST gene DDOST Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR; CDG1R 22305527 False 2 60;20;20 44.654 False ENSG00000244038 ENSG00000244038 HGNC:2728 DDX53 gene DDX53 Expert Review Amber Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 20531469 False 2 0;33;67 44.654 False ENSG00000184735 ENSG00000184735 HGNC:20083 DENND5A gene DENND5A Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49 617281 27866705;27431290 False 2 50;50;0 44.654 False ENSG00000184014 ENSG00000184014 HGNC:19344 DHDDS gene DHDDS Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861;?Congenital disorder of glycosylation, type 1bb, OMIM:613861 21295282;21295283;27343064 False 2 0;0;0 44.654 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHX16 gene DHX16 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 31256877 False 2 0;100;0 44.654 False ENSG00000204560 ENSG00000204560 HGNC:2739 DHX32 gene DHX32 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, spastic diplegia, dystonia, brain abnormalities 32989326 False 2 0;100;0 44.654 False ENSG00000089876 ENSG00000089876 HGNC:16717 DLAT gene DLAT Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E2 deficiency, 245348 False 2 50;50;0 44.654 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLG1 gene DLG1 Expert Review Amber Hypotonic infant Developmental disorders 26350204;24896178; 24838842;20830797;15918153 False 2 0;33;67 44.654 False ENSG00000075711 ENSG00000075711 HGNC:2900 DLG2 gene DLG2 Expert Review Amber Hypotonic infant Developmental disorders 28724449 False 2 0;33;67 44.654 False ENSG00000150672 ENSG00000150672 HGNC:2901 DOCK8 gene DOCK8 NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder, autosomal dominant 2, OMIM:614113 25529582;24896178;18060736;1764478;27891178;19776401;29930340;33455084 False 2 43;29;29 44.654 False ENSG00000107099 ENSG00000107099 HGNC:19191 DONSON gene DONSON Expert Review Amber;Expert Review;Expert Review;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and limb abnormalities (MIM 617604);Microcephaly, short stature, and limb abnormalities 617604;Microcephaly-micromelia syndrome (MIM 251230);Microcephaly-micromelia syndrome 251230 28630177;28191891 False 2 0;100;0 44.654 False ENSG00000159147 ENSG00000159147 HGNC:2993 DPH2 gene DPH2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Diphthamide-deficiency syndrome 32576952;27421267 False 2 0;100;0 44.654 False ENSG00000132768 ENSG00000132768 HGNC:3004 DPM1 gene DPM1 NHS GMS;London South GLH;Expert Review Amber;Emory Genetics Laboratory Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 10642597;10642602;15669674;16641202;23856421;27481510;28139241;30653653 False 2 33;67;0 44.654 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM3 gene DPM3 Expert Review Amber;NHS GMS;Yorkshire and North East GLH;Expert Review Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937;DPM3-congenital disorder of glycosylation, MONDO:0013049;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992;muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 19576565;28803818;31266720 False 2 75;25;0 44.654 True ENSG00000179085 ENSG00000179085 HGNC:3007 DPM3 gene DPM3 Victorian Clinical Genetics Services;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 28357185 False 2 0;75;25 44.654 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYSL2 gene DPYSL2 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown intellectual disability, MONDO:0001071;Aplasia/Hypoplasia of the corpus callosum, HP:0007370 27249678;35861646 False 2 0;100;0 44.654 False ENSG00000092964 ENSG00000092964 HGNC:3014 DROSHA gene DROSHA NHS GMS;Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Cerebral white matter atrophy;Abnormality of the corpus callosum;Abnormality of movement;Stereotypic behavior;Abnormality of head or neck;Short foot 35405010 False 2 33;67;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113360 ENSG00000113360 HGNC:17904 DST gene DST Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952 40497796;35942699 False 2 100;0;0 44.654 False ENSG00000151914 ENSG00000151914 HGNC:1090 DYNC1I2 gene DYNC1I2 Expert Review Amber;Expert Review;Expert Review;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492 31079899 False 2 0;100;0 44.654 False ENSG00000077380 ENSG00000077380 HGNC:2964 DYSF gene DYSF Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, OMIM:254130;Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601;Myopathy, distal, with anterior tibial onset, OMIM:606768 25821721 False 2 0;100;0 44.654 False ENSG00000135636 ENSG00000135636 HGNC:3097 EEF1B2 gene EEF1B2 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992;24188901 False 2 0;33;67 44.654 False ENSG00000114942 ENSG00000114942 HGNC:3208 EFNB1 gene EFNB1 Expert Review Amber;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Craniofrontonasal dysplasia, OMIM:304110 23335590;25679214;27650623;31088393;24520368 False 2 50;50;0 44.654 False ENSG00000090776 ENSG00000090776 HGNC:3226 EHHADH gene EHHADH Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine 24401050;27160910;33340416 False 2 0;100;0 44.654 False ENSG00000113790 ENSG00000113790 HGNC:3247 EIPR1 gene EIPR1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41058046 False 2 100;0;0 44.654 False ENSG00000032389 ENSG00000032389 HGNC:12383 EMG1 gene EMG1 Expert Review Amber;Literature;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome, 211180 30914295 False 2 0;0;0 44.654 False ENSG00000126749 ENSG00000126749 HGNC:16912 EMX2 gene EMX2 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizencephaly, OMIM:269160;schizencephaly, MONDO:0010011 8528262;9153481;9359037;17506092;18409201;20157829 False 2 20;40;40 44.654 False ENSG00000170370 ENSG00000170370 HGNC:3341 EPB41L1 gene EPB41L1 Victorian Clinical Genetics Services;Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Mental retardation, autosomal dominant 11 614257 21376300;25572454 False 2 0;50;50 44.654 False ENSG00000088367 ENSG00000088367 HGNC:3378 EPHA7 gene EPHA7 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability, MONDO:0001071;Delayed speech and language development;Behavioral abnormality 34176129;19664229 False 2 0;100;0 44.654 False ENSG00000135333 ENSG00000135333 HGNC:3390 ERAL1 gene ERAL1 Expert list;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 28449065 False 2 0;0;0 44.654 False ENSG00000132591 ENSG00000132591 HGNC:3424 ERGIC3 gene ERGIC3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, MONDO:0001071 33710394;31585110 False 2 0;100;0 44.654 False ENSG00000125991 ENSG00000125991 HGNC:15927 EXOC2 gene EXOC2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Abnormality of the face;Abnormality of brain morphology 32639540 False 2 0;100;0 44.654 False ENSG00000112685 ENSG00000112685 HGNC:24968 EXOC7 gene EXOC7 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal brain atrophy;seizures;developmental delay;microcephaly 32103185 False 2 100;0;0 44.654 False ENSG00000182473 ENSG00000182473 HGNC:23214 EXOSC8 gene EXOSC8 Expert Review Amber;Literature;UKGTN Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081;neuronopathy, distal hereditary motor, MONDO:0000075 24989451 False 2 33;67;0 44.654 False ENSG00000120699 ENSG00000120699 HGNC:17035 FAAH2 gene FAAH2 Expert Review Amber Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 25885783;20655035;34645488 False 2 17;33;50 44.654 False ENSG00000165591 ENSG00000165591 HGNC:26440 FAM120C gene FAM120C Expert Review Amber Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 25258334;18498374 False 2 0;33;67 44.654 False ENSG00000184083 ENSG00000184083 HGNC:16949 FANCA gene FANCA Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCC gene FANCC Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group F, 603467 False 2 100;0;0 44.654 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Victorian Clinical Genetics Services;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, 614082 False 2 100;0;0 44.654 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, 609053 False 2 100;0;0 44.654 False ENSG00000140525 ENSG00000140525 HGNC:25568 FARSB gene FARSB Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Rajab syndrome, MIM#613658;interstitial lung disease;brain calcifications;microcephaly;intellectual disability 29573043;1916114;29979980;30014610 False 2 50;50;0 44.654 False ENSG00000116120 ENSG00000116120 HGNC:17800 FDFT1 gene FDFT1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Squalene synthase deficiency, 618156 29909962 False 2 33;67;0 44.654 False ENSG00000079459 ENSG00000079459 HGNC:3629 FEM1C gene FEM1C Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071 28135719;36336956 False 2 0;100;0 44.654 False ENSG00000145780 ENSG00000145780 HGNC:16933 FGF13 gene FGF13 Expert Review Amber;Literature Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental and epileptic encephalopathy;Intellectual disability;Infantile-onset seizures 33245860 False 2 100;0;0 44.654 False Other ENSG00000129682 ENSG00000129682 HGNC:3670 FGF14 gene FGF14 Expert Review Amber;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 27 609307 12489043;15470364;21600715;30017992 False 2 67;33;0 44.654 False ENSG00000102466 ENSG00000102466 HGNC:3671 FGFR2 gene FGFR2 Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Antley-Bixler syndrome;Apert syndrome;Crouzon syndrome;Beare-Stevenson Cutis Gyrata syndrome 16061565 False 2 50;0;50 44.654 False ENSG00000066468 ENSG00000066468 HGNC:3689 FICD gene FICD Expert Review Amber;Expert review Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neonatal diabetes;Neonatal insulin-dependent diabetes mellitus, HP:0000857;severe neurodevelopmental delay, HP:0012758;skeletal abnormalities. 36704923 False 2 0;0;0 44.654 False ENSG00000198855 ENSG00000198855 HGNC:18416 FLNC gene FLNC NHS GMS;Expert Review;Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 4, OMIM:614065;Myopathy, myofibrillar, 5, OMIM:609524 29858533 False 2 0;0;100 44.654 False ENSG00000128591 ENSG00000128591 HGNC:3756 FOXP4 gene FOXP4 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;multiple congenital abnormalities 33110267;36301021;36646976 False 2 33;67;0 44.654 False ENSG00000137166 ENSG00000137166 HGNC:20842 FOXR1 gene FOXR1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay, HP:0001263;microcephaly, MONDO:0001149;Brain atrophy, HP:0012444 34723967 False 2 0;100;0 44.654 False ENSG00000176302 ENSG00000176302 HGNC:29980 FRAS1 gene FRAS1 Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1 219000 12766769;16894541;17163535 False 2 50;0;50 44.654 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM2 gene FREM2 Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000150893 ENSG00000150893 HGNC:25396 FRRS1L gene FRRS1L Expert Review Amber;Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 37 (MIM 616981);Epileptic encephalopathy, early infantile, 37, 616981 29276473;27239025;21147040;27236917;30914295 False 2 50;50;0 44.654 False ENSG00000260230 ENSG00000260230 HGNC:1362 FRY gene FRY Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 31487712;27457812;21937992 False 2 0;25;75 44.654 False ENSG00000073910 ENSG00000073910 HGNC:20367 FRYL gene FRYL Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pan-Chung-Bellen syndrome, OMIM:621049;Pan-Chung-Bellen syndrome, MONDO:0975953 38479391 False 2 0;100;0 44.654 False ENSG00000075539 ENSG00000075539 HGNC:29127 FSD1L gene FSD1L Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 44.654 False ENSG00000106701 ENSG00000106701 HGNC:13753 FTO gene FTO Victorian Clinical Genetics Services;Expert Review Amber;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, developmental delay, facial dysmorphism 612938 19559399;26378117 False 2 0;33;67 44.654 False ENSG00000140718 ENSG00000140718 HGNC:24678 GABBR1 gene GABBR1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with language delay and variable cognitive abnormalities, OMIM:620502 36103875 False 2 0;100;0 44.654 False ENSG00000204681 ENSG00000204681 HGNC:4070 GABRA3 gene GABRA3 Expert Review Amber;Literature Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 41289009;29053855 False 2 100;0;0 44.654 False ENSG00000011677 ENSG00000011677 HGNC:4077 GATA6 gene GATA6 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrioventricular septal defect 5, 614474; Atrial septal defect 9, 614475; Pancreatic agenesis and congenital heart defects, 600001; Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500 25529582;22158542 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000141448 ENSG00000141448 HGNC:4174 GATC gene GATC Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 42, OMIM:618839 30283131 False 2 0;100;0 44.654 False ENSG00000257218 ENSG00000257218 HGNC:25068 GBA gene GBA Victorian Clinical Genetics Services;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, type I, 230800;Gaucher disease, type II, 230900;Gaucher disease, type III, 231000 25529582;28933363;22212131;20301446;2464926;2349952;1840477 False 2 67;33;0 44.654 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA2 gene GBA2 Expert Review Amber;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 46, autosomal recessive, 614409" 23332916;23332917;24252062;28052128 False 2 25;50;25 44.654 False ENSG00000070610 ENSG00000070610 HGNC:18986 GIGYF1 gene GIGYF1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorder 33057194 False 2 0;100;0 44.654 False ENSG00000146830 ENSG00000146830 HGNC:9126 GJB1 gene GJB1 Expert Review Amber;Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 26503795;23279342;26385972 False 2 25;0;75 44.654 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJB3 gene GJB3 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrokeratodermia variabilis et progressiva, 133200;Deafness, autosomal dominant 2B, 612644;Deafness, autosomal recessive;Deafness, autosomal dominant, with peripheral neuropathy;Deafness, digenic, GJB2/GJB3, 220290 False 2 100;0;0 44.654 False ENSG00000188910 ENSG00000188910 HGNC:4285 GLI3 gene GLI3 NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 12414818;14708104;14608643;34296525 False 2 60;20;20 44.654 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLS gene GLS Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412;Developmental and epileptic encephalopathy 71, OMIM:618328;?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 30970188 False 2 100;0;0 44.654 False ENSG00000115419 ENSG00000115419 HGNC:4331 GMNN gene GMNN Expert Review Amber;Literature;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Meier-Gorlin syndrome 6, OMIM:616835 26637980;30914295 False 2 0;0;0 44.654 False ENSG00000112312 ENSG00000112312 HGNC:17493 GNE gene GNE Expert Review Amber;Expert list Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sialuria, MIM#269921 False 2 50;50;0 44.654 False ENSG00000159921 ENSG00000159921 HGNC:23657 GON4L gene GON4L Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Li-Takada-Miyake syndrome, OMIM:621212;Li-Takada-Miyake syndrome, MONDO:0978303 21937992;26350204;24896178;39500882 False 2 0;33;67 44.654 False ENSG00000116580 ENSG00000116580 HGNC:25973 GOT2 gene GOT2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 82, OMIM:618721;Developmental and epileptic encephalopathy, 82, MONDO:0032880 31422819 False 2 67;33;0 44.654 False ENSG00000125166 ENSG00000125166 HGNC:4433 GPSM2 gene GPSM2 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, 604213 27180139;23494849;22578326;20602914;21348867 False 2 20;60;20 44.654 False ENSG00000121957 ENSG00000121957 HGNC:29501 GSS gene GSS Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency 231900 29340523;24896178;26503795;8896573;15990954 False 2 0;0;100 44.654 False ENSG00000100983 ENSG00000100983 HGNC:4624 GSX2 gene GSX2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal "Diencephalic-mesencephalic junction dysplasia syndrome 2 618646;Intellectual disability;Dystonia;Spastic tetra paresis" 31412107 False 2 0;100;0 44.654 False ENSG00000180613 ENSG00000180613 HGNC:24959 GTF2I gene GTF2I Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40962490 False 2 100;0;0 44.654 False ENSG00000077809 ENSG00000263001 HGNC:4659 GUK1 gene GUK1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, OMIM:621071 39230499 False 2 100;0;0 44.654 False ENSG00000143774 ENSG00000143774 HGNC:4693 HADHB gene HADHB Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, MIM#609015 False 2 50;50;0 44.654 False ENSG00000138029 ENSG00000138029 HGNC:4803 HARS gene HARS Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome;mild-severe intellectual disability 32296180 False 2 0;100;0 44.654 False ENSG00000170445 ENSG00000170445 HGNC:4816 HAX1 gene HAX1 Victorian Clinical Genetics Services;Expert Review Amber;Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, 610738 18611981;24896178;26503795;25529582 False 2 33;0;67 44.654 False ENSG00000143575 ENSG00000143575 HGNC:16915 HCN2 gene HCN2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Generalized epilepsy with febrile seizures plus, type 11, OMIM:602477;neurodevelopmental disorder, MONDO:0700092 40468825 False 2 100;0;0 44.654 False ENSG00000099822 ENSG00000099822 HGNC:4846 HEATR3 gene HEATR3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Anemia;Thrombocytopenia;Growth delay;Short stature;Abnormality of the skeletal system;Abnormality of finger;Abnormality of the thumb;Intellectual disability;Obesity;Abnormality of the face 35213692 False 2 0;100;0 44.654 False ENSG00000155393 ENSG00000155393 HGNC:26087 HEATR5B gene HEATR5B Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures 33824466 False 2 0;100;0 44.654 False ENSG00000008869 ENSG00000008869 HGNC:29273 HINT1 gene HINT1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neuromyotonia and axonal neuropathy, autosomal recessive, OMIM:137200;Gamstorp-Wohlfart syndrome, MONDO:0007646 22961002;34694653;39596683 False 2 50;0;50 44.654 False ENSG00000169567 ENSG00000169567 HGNC:4912 HIRA gene HIRA Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder 33417013;28135719;25363760 False 2 50;50;0 44.654 False ENSG00000100084 ENSG00000100084 HGNC:4916 HIST1H4I gene HIST1H4I Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tessadori-van Haaften neurodevelopmental syndrome 4, OMIM:619951;Tessadori-Van Haaften neurodevelopmental syndrome 4, MONDO:0031000 35202563 False 2 100;0;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198339 ENSG00000276180 HGNC:4793 HIST1H4J gene HIST1H4J Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Tessadori-van Haaften neurodevelopmental syndrome 2 , OMIM:619759 31804630;35202563 False 2 0;100;0 44.654 False ENSG00000197238 ENSG00000197238 HGNC:4785 HNF1B gene HNF1B Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; {Renal cell carcinoma}, 144700 False 2 100;0;0 44.654 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 3 , OMIM:610099;distal myopathy, MONDO:0018949 34291734;34722876;39072769 False 2 100;0;0 44.654 False ENSG00000135486 ENSG00000135486 HGNC:5031 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 3 , OMIM:610099;distal myopathy, MONDO:0018949 34291734;34722876;35550112;39072769 False 2 100;0;0 44.654 False ENSG00000135486 ENSG00000135486 HGNC:5031 HNRNPD gene HNRNPD Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorders 33057194;33874999 False 2 50;50;0 44.654 False ENSG00000138668 ENSG00000138668 HGNC:5036 HS2ST1 gene HS2ST1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features;congenital anomalies 33159882 False 2 100;0;0 44.654 False ENSG00000153936 ENSG00000153936 HGNC:5193 HSPB1 gene HSPB1 Expert Review Amber;Expert Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor, type IIB, OMIM:608634;Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595 15122254 False 2 0;0;100 44.654 False ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert Review Amber;Expert Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor, type IIA, OMIM:158590 15122253;26718575 False 2 0;0;100 44.654 False ENSG00000152137 ENSG00000152137 HGNC:30171 HSPG2 gene HSPG2 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717 25529582 False 2 100;0;0 44.654 False ENSG00000142798 ENSG00000142798 HGNC:5273 HTT gene HTT Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Lopes-Maciel-Rodan syndrome, OMIM:617435;LOMARS 26740508;27329733;33432339 False 2 50;50;0 44.654 False ENSG00000197386 ENSG00000197386 HGNC:4851 IDH1 gene IDH1 Expert Review Amber;NHS GMS;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875;metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941;Maffucci syndrome, OMIM:614569;Maffucci syndrome, MONDO:0013808;Ollier disease/ Dyschondroplasia, OMIM:166000;Ollier disease, MONDO:0008145 24049096;22025298;22057234;22057236;33340416 False 2 67;33;0 44.654 False ENSG00000138413 ENSG00000138413 HGNC:5382 IFT27 gene IFT27 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 24488770;30761183 False 2 0;100;0 44.654 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3, 614099 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000119650 ENSG00000119650 HGNC:29669 IL1RAPL2 gene IL1RAPL2 Expert Review Amber;Literature Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked non-syndromic mental retardation loci 24646727 False 2 0;100;0 44.654 False ENSG00000189108 ENSG00000189108 HGNC:5997 IPO8 gene IPO8 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal VISS syndrome, OMIM:619472;VISS syndrome, MONDO:0859177 34010604;34010605;33875846 False 2 0;100;0 44.654 False ENSG00000133704 ENSG00000133704 HGNC:9853 IQSEC1 gene IQSEC1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Central hypotonia;Global developmental delay;Intellectual disability;Behavioral abnormality;Short stature;Intellectual developmental disorder with short stature and behavioral abnormalities, 618687 31607425 False 2 33;67;0 44.654 False ENSG00000144711 ENSG00000144711 HGNC:29112 ISCA2 gene ISCA2 Expert Review Amber;Victorian Clinical Genetics Services;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, 616370 25539947;29297947;29359243;29122497 False 2 100;0;0 44.654 False ENSG00000165898 ENSG00000165898 HGNC:19857 ITFG2 gene ITFG2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental abnormality;Intellectual disability;Developmental regression;Ataxia 28397838;33083013 False 2 0;100;0 44.654 False ENSG00000111203 ENSG00000111203 HGNC:30879 ITGA7 gene ITGA7 Victorian Clinical Genetics Services;Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000135424 ENSG00000135424 HGNC:6143 ITGAV gene ITGAV Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal syndromic disease, MONDO:0002254 39526957 False 2 0;100;0 44.654 False ENSG00000138448 ENSG00000138448 HGNC:6150 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071;seizures 29158550;26627310;27799067 False 2 0;100;0 44.654 False ENSG00000152969 ENSG00000152969 HGNC:26460 JKAMP gene JKAMP Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41643666 False 2 100;0;0 44.654 False ENSG00000050130 ENSG00000050130 HGNC:20184 JMJD1C gene JMJD1C Expert Review Amber;Expert Review Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Autism 26181491;31954878;32996679;28378413 False 2 50;50;0 44.654 False ENSG00000171988 ENSG00000171988 HGNC:12313 KATNB1 gene KATNB1 Expert Review Amber;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 25521378;25521379;26640080 False 2 100;0;0 44.654 False ENSG00000140854 ENSG00000140854 HGNC:6217 KCNA1 gene KCNA1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia/myokymia syndrome, OMIM:160120 27730449;30055040;34778950 False 2 50;25;25 44.654 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNC3 gene KCNC3 Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13, OMIM:605259;MONDO:0011529 32655623;25756792 False 2 60;20;20 44.654 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 19, OMIM: 607346;spinocerebellar ataxia type 19/22, MONDO:0011819 26189493;28895081;32823520;31293010;32921676;39562497 False 2 40;40;20 44.654 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNK4 gene KCNK4 Expert Review Amber;Expert Review;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 30290154 False 2 50;50;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000182450 ENSG00000182450 HGNC:6279 KDM2A gene KDM2A Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 41468891 False 2 100;0;0 44.654 False ENSG00000173120 ENSG00000173120 HGNC:13606 KIF26A gene KIF26A Expert Review Amber;Other Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156;cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332 36228617;36564622;39305096 False 2 0;100;0 44.654 False ENSG00000066735 ENSG00000066735 HGNC:20226 KIF5B gene KIF5B Expert Review Amber;NHS GMS Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted kyphomelic dysplasia, MONDO:0008881;intellectual disability, MONDO:0001071 36018820;35342932 False 2 0;100;0 44.654 False ENSG00000170759 ENSG00000170759 HGNC:6324 KLHL15 gene KLHL15 Expert Review Amber;Expert Review Amber Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 103, 300982;MRX103;Intellectual disability 26350204;24817631;25644381 False 2 0;0;100 44.654 False ENSG00000174010 ENSG00000174010 HGNC:29347 LAMB2 gene LAMB2 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, MIM#609049 False 2 50;50;0 44.654 False ENSG00000172037 ENSG00000172037 HGNC:6487 LAMP2 gene LAMP2 NHS GMS;London South GLH;Expert Review Amber;Expert Review Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, OMIM:300257 12084876;21415759 False 2 33;67;0 44.654 True ENSG00000005893 ENSG00000005893 HGNC:6501 LARS2 gene LARS2 Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300;Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021;Leukodystrophy 29205794;30737337;32442335 False 2 100;0;0 44.654 False ENSG00000011376 ENSG00000011376 HGNC:17095 LAS1L gene LAS1L Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Wilson-Turner syndrome 309585 25644381;26358559 False 2 33;0;67 44.654 False ENSG00000001497 ENSG00000001497 HGNC:25726 LDB1 gene LDB1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus, MONDO:0016349 39680505;38091987;33077954 False 2 100;0;0 44.654 False ENSG00000198728 ENSG00000198728 HGNC:6532 LDHD gene LDHD Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal D-lactic aciduria with susceptibility to gout, OMIM:245450;lactic aciduria due to D-lactic acid, MONDO:0009505 30931947;31638601;34258137;37021930 False 2 50;50;0 44.654 False ENSG00000166816 ENSG00000166816 HGNC:19708 LINGO1 gene LINGO1 Expert Review Amber;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 64 (MIM 618103) 28837161 False 2 0;100;0 44.654 False ENSG00000169783 ENSG00000169783 HGNC:21205 LIPC gene LIPC Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Hepatic lipase deficiency, 614025;[High density lipoprotein cholesterol level QTL 12] 612797;{Diabetes mellitus, noninsulin-dependent} 125853 27604308;1671786;12777476;22464213;23219720 False 2 0;0;0 44.654 False ENSG00000166035 ENSG00000166035 HGNC:6619 LIPT2 gene LIPT2 Expert Review Amber;Literature;Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 28628643;30914295 False 2 0;0;0 44.654 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMAN2L gene LMAN2L Expert Review Amber;Expert list Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;epilepsy 31020005;26566883 False 2 0;100;0 44.654 False ENSG00000114988 ENSG00000114988 HGNC:19263 LMBRD1 gene LMBRD1 Victorian Clinical Genetics Services;Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO;Methylmalonic aciduria and homocystinuria, cblF type, 277380 False 2 100;0;0 44.654 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMNA gene LMNA Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 2, AD, 181350; Cardiomyopathy, dilated, 1A, 115200; Lipodystrophy, familial partial, 2, 151660; Emery-Dreifuss muscular dystrophy 3, AR, 181350; Charcot-Marie-Tooth disease, type 2B1, 605588; Muscular dystrophy, congenital, 613205; Muscular dystrophy, limb-girdle, type 1B, 159001; Mandibuloacral dysplasia, 248370; Hutchinson-Gilford progeria, 176670; Restrictive dermopathy, lethal, 275210; Heart-hand syndrome, Slovenian type, 610140; Malouf syndrome, 212112 25529582;39767643 False 2 33;33;33 44.654 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNB2 gene LMNB2 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 27, primary, autosomal dominant, OMIM:619180 33033404 False 2 100;0;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000176619 ENSG00000176619 HGNC:6638 LNPK gene LNPK Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Generalized hypotonia;Global developmental delay;Intellectual disability;Seizures;Hypoplasia of the corpus callosum;Abnormality of the cerebellum;Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 30032983 False 2 0;100;0 44.654 False ENSG00000144320 ENSG00000144320 HGNC:21610 LRIF1 gene LRIF1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 44.654 False ENSG00000121931 ENSG00000121931 HGNC:30299 LRIF1 gene LRIF1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 44.654 False ENSG00000121931 ENSG00000121931 HGNC:30299 LRP5 gene LRP5 Victorian Clinical Genetics Services;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Osteoporosis-pseudoglioma syndrome, 259770 False 2 50;50;0 44.654 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRRC32 gene LRRC32 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 30976112;35656379;40721351;https://doi.org/10.1016/j.rare.2025.100101 False 2 20;60;20 44.654 False ENSG00000137507 ENSG00000137507 HGNC:4161 LRRC45 gene LRRC45 Expert Review Amber;Other Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Abnormal brain morphology, HP:0012443;neurodevelopmental disorder, MONDO:0700092 30131441;34716235;39638757 False 2 100;0;0 44.654 False ENSG00000169683 ENSG00000169683 HGNC:28302 LRRC8C gene LRRC8C Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TIMES syndrome, OMIM:621056 39623139 False 2 0;100;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171488 ENSG00000171488 HGNC:25075 LSM1 gene LSM1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal FICUS syndrome, OMIM:621193;FICUS syndrome, MONDO:0978296 31010896;36100156;40204357 False 2 100;0;0 44.654 False ENSG00000175324 ENSG00000175324 HGNC:20472 LSM7 gene LSM7 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046 35047835;39420558 False 2 0;0;100 44.654 False ENSG00000130332 ENSG00000130332 HGNC:20470 LZTFL1 gene LZTFL1 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, MIM#615994 22510444;23692385;27312011 False 2 100;0;0 44.654 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAL gene MAL Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal developmental delay;nystagmus;progressive motor deterioration;dysmyelination 35217805 False 2 0;100;0 44.654 False ENSG00000172005 ENSG00000172005 HGNC:6817 MAPK10 gene MAPK10 Expert Review Amber;Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lennox-Gastaut syndrome;LGS;Epileptic Encephalopathy;Epileptic Encephalopathy Lennox-Gastaut type 23329067 False 2 0;25;75 44.654 False ENSG00000109339 ENSG00000109339 HGNC:6872 MIR17HG gene MIR17HG Expert Review Amber;Expert Review Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Feingold syndrome 2, 614326;FS2;Brachydactyly with short stature and microcephaly;Intellectual disability 21892160;19344873;25391829;26360630 False 2 0;100;0 44.654 False ENSG00000215417 ENSG00000215417 HGNC:23564 MKL2 gene MKL2 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 37013900 False 2 50;50;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000186260 ENSG00000186260 HGNC:29819 MMGT1 gene MMGT1 Expert Review Amber;Literature Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Developmental disorders 33057194 False 2 0;100;0 44.654 False ENSG00000169446 ENSG00000169446 HGNC:28100 MPV17 gene MPV17 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 25529582;22593919 False 2 100;0;0 44.654 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRPS14 gene MRPS14 Expert list;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 0;0;0 44.654 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2 610498 27604308;28749478;15505824 False 2 33;33;33 44.654 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25556185 False 2 50;0;50 44.654 False ENSG00000125445 ENSG00000125445 HGNC:14499 MTMR14 gene MTMR14 NHS GMS;London South GLH;Expert Review Amber;Expert Review Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 19465920 False 2 67;33;0 44.654 True ENSG00000163719 ENSG00000163719 HGNC:26190 MT-RNR2 gene MT-RNR2 Expert Review Amber Hypotonic infant Developmental disorders MITOCHONDRIAL False 2 50;50;0 44.654 False ENSG00000210082 ENSG00000210082 HGNC:7471 MT-TA gene MT-TA Expert Review Amber;Literature Hypotonic infant Developmental disorders MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 11715067;14569122;17825557 False 2 0;100;0 44.654 False Other ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TG gene MT-TG Expert Review Amber;Literature Hypotonic infant Developmental disorders MITOCHONDRIAL mitochondrial encephalomyopathy, MONDO:0004675 11971101;16120360 False 2 50;50;0 44.654 False Other ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TP gene MT-TP Expert Review Amber;Literature Hypotonic infant Developmental disorders MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 7689388;32305257 False 2 0;100;0 44.654 False Other ENSG00000210196 ENSG00000210196 HGNC:7494 MYBPC3 gene MYBPC3 NHS GMS;London South GLH;Expert Review Amber;Expert Review Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1MM, OMIM:615396;Cardiomyopathy, hypertrophic, 4, OMIM:115197 19858127 False 2 67;33;0 44.654 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYCBP2 gene MYCBP2 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 36200388;41200582;41543631;33875846 False 2 100;0;0 44.654 False ENSG00000005810 ENSG00000005810 HGNC:23386 MYF5 gene MYF5 Expert Review Amber;Literature;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 29887215 False 2 0;67;33 44.654 False Other ENSG00000111049 ENSG00000111049 HGNC:7565 MYH1 gene MYH1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 33755318 False 2 0;100;0 44.654 False ENSG00000109061 ENSG00000109061 HGNC:7567 NAGS gene NAGS Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency, 237310 False 2 50;50;0 44.654 False ENSG00000161653 ENSG00000161653 HGNC:17996 NBAS gene NBAS Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 False 2 100;0;0 44.654 False ENSG00000151779 ENSG00000151779 HGNC:15625 NBN gene NBN Victorian Clinical Genetics Services;Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000104320 ENSG00000104320 HGNC:7652 NCAPD2 gene NCAPD2 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 21, primary, autosomal recessive, OMIM #617983 31056748;27737959;28097321 False 2 50;50;0 44.654 False ENSG00000010292 ENSG00000010292 HGNC:24305 NCAPG2 gene NCAPG2 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Khan-Khan-Katsanis syndrome, MIM# 618460 30609410 False 2 50;50;0 44.654 False ENSG00000146918 ENSG00000146918 HGNC:21904 NDUFA5 gene NDUFA5 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial complex I deficiency, MONDO:0100133 41859003;41916321 False 2 50;50;0 44.654 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFAF1 gene NDUFAF1 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 17557076;21931170;24963768 False 2 100;0;0 44.654 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Amber;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000;Mitochondrial complex I deficiency 252010 16200211;20818383;20571988 False 2 0;100;0 44.654 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF5 gene NDUFAF5 Expert Review Amber;Victorian Clinical Genetics Services;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex 1 deficiency, 618238 19542079;21607760;18940309 False 2 100;0;0 44.654 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFB9 gene NDUFB9 Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24 618245 22200994 False 2 100;0;0 44.654 False ENSG00000147684 ENSG00000147684 HGNC:7704 NECAP1 gene NECAP1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Epileptic encephalopathy, early infantile 21, 615833 24399846;30525121;30626896 False 2 100;0;0 44.654 False ENSG00000089818 ENSG00000089818 HGNC:24539 NEFL gene NEFL Expert Review Amber;UCL Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline Myopathy 25264603 False 2 0;0;0 44.654 True ENSG00000104725 ENSG00000277586 HGNC:7739 NFIB gene NFIB Expert Review Amber;Literature;Expert Review Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, acquired, with impaired intellectual development, OMIM:618286 30388402;39567597 False 2 50;50;0 44.654 False ENSG00000147862 ENSG00000147862 HGNC:7785 NHP2 gene NHP2 Expert Review Amber;Victorian Clinical Genetics Services;Gene2Phenotype Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, 613987;H yeraal-Hreidarsson syndrome 18523010;31985013;20301779;25182133 False 2 0;100;0 44.654 False ENSG00000145912 ENSG00000145912 HGNC:14377 NPHP3 gene NPHP3 Expert Review Amber;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540;Meckel syndrome 7, 267010 18371931 False 2 100;0;0 44.654 False ENSG00000113971 ENSG00000113971 HGNC:7907 NRDC gene NRDC Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41734767 False 2 100;0;0 44.654 False ENSG00000078618 ENSG00000078618 HGNC:7995 NT5C3A gene NT5C3A Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency, 266120 False 2 100;0;0 44.654 False ENSG00000122643 ENSG00000122643 HGNC:17820 NUP107 gene NUP107 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME False 2 50;50;0 44.654 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP188 gene NUP188 Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Sandestig-Stefanova syndrome, 618804 32021605;32275884 False 2 67;0;33 44.654 False ENSG00000095319 ENSG00000095319 HGNC:17859 NUP62 gene NUP62 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile, 271930;Intellectual disability 12374138;14718703;16786527 False 2 0;100;0 44.654 False ENSG00000213024 ENSG00000213024 HGNC:8066 NUP85 gene NUP85 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) 34170319 False 2 0;100;0 44.654 False ENSG00000125450 ENSG00000125450 HGNC:8734 NYX gene NYX Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (complete), 1A, X-linked, 310500 False 2 100;0;0 44.654 False ENSG00000188937 ENSG00000188937 HGNC:8082 OLA1 gene OLA1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523;neurodevelopmental disorder,MONDO:0700092;microcephaly, MONDO:0001149 41887223 False 2 100;0;0 44.654 False ENSG00000138430 ENSG00000138430 HGNC:28833 OPLAH gene OPLAH Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 5-oxoprolinase deficiency 260005 27604308;21651516;23430506;27477828 False 2 0;0;0 44.654 False ENSG00000178814 ENSG00000178814 HGNC:8149 PABPN1 gene PABPN1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngeal muscular dystrophy, OMIM:164300;oculopharyngeal muscular dystrophy, MONDO:0008116 16648376;21742497;34225694;36847015 False 2 100;0;0 44.654 False ENSG00000100836 ENSG00000100836 HGNC:8565 PAICS gene PAICS Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859 31600779;39604553;39726239 False 2 100;0;0 44.654 False ENSG00000128050 ENSG00000128050 HGNC:8587 PAM16 gene PAM16 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320 24786642;27354339 False 2 100;0;0 44.654 False ENSG00000217930 ENSG00000217930 HGNC:29679 PARP6 gene PARP6 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly 34067418 False 2 100;0;0 44.654 False ENSG00000137817 ENSG00000137817 HGNC:26921 PAX1 gene PAX1 Expert Review Amber;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Otofaciocervical syndrome 2, 615560 29681087;23851939;28657137 False 2 0;100;0 44.654 False ENSG00000125813 ENSG00000125813 HGNC:8615 PCBP2 gene PCBP2 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 38965372 False 2 50;50;0 44.654 False ENSG00000197111 ENSG00000197111 HGNC:8648 PDCD6IP gene PDCD6IP Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal microcephaly;Intellectual disability 32286682 False 2 0;100;0 44.654 False ENSG00000170248 ENSG00000170248 HGNC:8766 PDE10A gene PDE10A Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 27058446 False 2 50;50;0 44.654 False ENSG00000112541 ENSG00000112541 HGNC:8772 PDE1B gene PDE1B Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal movement disorder, MONDO:0005395;intellectual disability, MONDO:0001071 40492975 False 2 50;50;0 44.654 False ENSG00000123360 ENSG00000123360 HGNC:8775 PDE6D gene PDE6D Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22 - MIM 615665 24166846;30423442 False 2 0;100;0 44.654 False ENSG00000156973 ENSG00000156973 HGNC:8788 PDP1 gene PDP1 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 19184109;15855260;31392110 False 2 100;0;0 44.654 False ENSG00000164951 ENSG00000164951 HGNC:9279 PET117 gene PET117 Expert list;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 2 0;0;0 44.654 False ENSG00000232838 ENSG00000232838 HGNC:40045 PHF12 gene PHF12 Expert Review Amber;ClinGen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder, MONDO:0100038 27479843;28135719;28263302;33057194 False 2 100;0;0 44.654 False Other ENSG00000109118 ENSG00000109118 HGNC:20816 PHF14 gene PHF14 NHS GMS;Expert Review Amber;Expert list;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism 35074918;22617776;31452935;31981491;26402605 False 2 67;33;0 44.654 False ENSG00000106443 ENSG00000106443 HGNC:22203 PHF5A gene PHF5A Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PHF5A-related neurodevelopmental disorder with congenital malformations;neurodevelopmental disorder, MONDO:0700092 33811463;37422718 False 2 100;0;0 44.654 False ENSG00000100410 ENSG00000100410 HGNC:18000 PIK3C2A gene PIK3C2A Expert Review Amber;Expert Review Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome, 618440 31034465 False 2 50;50;0 44.654 False ENSG00000011405 ENSG00000011405 HGNC:8971 PISD gene PISD Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;cataract;microcephaly;deafness;skeletal dysplasia 31263216;30858161 False 2 100;0;0 44.654 False ENSG00000241878 ENSG00000241878 HGNC:8999 PJA1 gene PJA1 Expert Review Amber Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Craniofrontonasal syndrome;CFNS; Intellectual disability 17941886;12036302;11533224;32530565 False 2 0;25;75 44.654 False ENSG00000181191 ENSG00000181191 HGNC:16648 PLA2G16 gene PLA2G16 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Associated with Lipodystrophy, familial partial, type 9, OMIM:620683;lipodystrophy, familial partial, type 9, MONDO:0958034 37919452 False 2 0;0;0 44.654 False ENSG00000176485 ENSG00000176485 HGNC:17825 PLAT gene PLAT Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 39574431 False 2 0;100;0 44.654 False ENSG00000104368 ENSG00000104368 HGNC:9051 PLXNA2 gene PLXNA2 Expert Review Amber;Other;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, MONDO:0001071;Abnormality of the face;Failure to thrive;Abnormal heart morphology 34327814 False 2 0;100;0 44.654 False ENSG00000076356 ENSG00000076356 HGNC:9100 PMPCA gene PMPCA Expert Review Amber;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 2 (MIM 213200) 25808372;26657514;27148589;30617178 False 2 100;0;0 44.654 False ENSG00000165688 ENSG00000165688 HGNC:18667 PNPO gene PNPO Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, 610090;Neonatal epileptic encephalopathy;Global developmental delay 28818555;22196487;21704546;25296925;26535729;24658933;15772097 False 2 50;50;0 44.654 False ENSG00000108439 ENSG00000108439 HGNC:30260 POGLUT1 gene POGLUT1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232;autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 27807076;29034878;31897643;33861953 False 2 100;0;0 44.654 False ENSG00000163389 ENSG00000163389 HGNC:22954 POMK gene POMK Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249" 23519211;24556084;24925318 False 2 100;0;0 44.654 False ENSG00000185900 ENSG00000185900 HGNC:26267 POU1F1 gene POU1F1 Victorian Clinical Genetics Services;Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 False 2 100;0;0 44.654 False ENSG00000064835 ENSG00000064835 HGNC:9210 PPA2 gene PPA2 NHS GMS;Expert Review Amber;Expert Review Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, OMIM:617222 False 2 0;100;0 44.654 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPFIA3 gene PPFIA3 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paul-Chao neurodevelopmental syndrome, OMIM:621122 38181735 False 2 100;0;0 44.654 False ENSG00000177380 ENSG00000177380 HGNC:9247 PRKACB gene PRKACB Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 2, OMIM:619143 33058759;39095811 False 2 0;100;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142875 ENSG00000142875 HGNC:9381 PRKD1 gene PRKD1 Expert Review Amber;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and ectodermal dysplasia 617364 27479907;32817298 False 2 67;33;0 44.654 False ENSG00000184304 ENSG00000184304 HGNC:9407 PRMT9 gene PRMT9 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 21937992;38561334;41260215 False 2 20;20;60 44.654 False ENSG00000164169 ENSG00000164169 HGNC:25099 PRODH gene PRODH NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, OMIM:239500;{Schizophrenia, susceptibility to, OMIM:4}, 600850 12217952;15662599;17412540;35367090 False 2 20;40;40 44.654 False ENSG00000100033 ENSG00000100033 HGNC:9453 PRRT2 gene PRRT2 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy;mental retardation;movement disorders;paroxysmal disorder;Autosomal recessive mental retardation 21937992;23352743;25595153;23398397;23126439;36180924 False 2 50;33;17 44.654 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSMB8 gene PSMB8 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 False 2 50;50;0 44.654 False Other - please provide details in the comments ENSG00000204264 ENSG00000204264 HGNC:9545 PSPH gene PSPH London North GLH;NHS GMS;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 27604308;24816252 False 2 0;100;0 44.654 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTH1R gene PTH1R Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045; Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000160801 ENSG00000160801 HGNC:9608 PTHLH gene PTHLH Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Humoral hypercalcemia of malignancy;Brachydactyly, type E2, 613382 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000087494 ENSG00000087494 HGNC:9607 PTPA gene PTPA Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, MONDO:0001071 36073231 False 2 0;100;0 44.654 False ENSG00000119383 ENSG00000119383 HGNC:9308 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 44.654 False ENSG00000110536 ENSG00000110536 HGNC:26965 PTPN1 gene PTPN1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, HP:0001298;dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 10066179;39986310 False 2 100;0;0 44.654 False ENSG00000196396 ENSG00000196396 HGNC:9642 RAB14 gene RAB14 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorders 33057194 False 2 0;100;0 44.654 False ENSG00000119396 ENSG00000119396 HGNC:16524 RAB3A gene RAB3A Expert Review Amber;Research Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RAB3A associated cerebellar ataxia;pyramidal features;neurodevelopmental delay 36928819;40166812 False 2 50;50;0 44.654 False ENSG00000105649 ENSG00000105649 HGNC:9777 RAD51 gene RAD51 Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi anemia, complementation group R, OMIM:617244 26681308;26253028;30907510 False 2 0;75;25 44.654 False ENSG00000051180 ENSG00000051180 HGNC:9817 RANBP2 gene RANBP2 Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute necrotizing encephalopathy (Other metabolic disorders) 27604308 False 2 100;0;0 44.654 False ENSG00000153201 ENSG00000153201 HGNC:9848 RAP1GDS1 gene RAP1GDS1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features 32431071 False 2 33;67;0 44.654 False ENSG00000138698 ENSG00000138698 HGNC:9859 RAX gene RAX Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 3, OMIM:611038;isolated microphthalmia 3, MONDO:0012604 18039390;24033328;30811539;18783408;14662654 False 2 25;75;0 44.654 False ENSG00000134438 ENSG00000134438 HGNC:18662 RBPJ gene RBPJ Expert Review Amber;Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adams-Oliver syndrome 3, 614814 22883147;28160419 False 2 0;100;0 44.654 False ENSG00000168214 ENSG00000168214 HGNC:5724 RDH11 gene RDH11 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118 24916380;34988992;41459630;41904678 False 2 100;0;0 44.654 False ENSG00000072042 ENSG00000072042 HGNC:17964 RDH11 gene RDH11 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118 24916380;34988992;41459630;41904678 False 2 100;0;0 44.654 False ENSG00000072042 ENSG00000072042 HGNC:17964 REEP1 gene REEP1 Expert Review Amber;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751 22703882;18321925 False 2 0;50;50 44.654 False ENSG00000068615 ENSG00000068615 HGNC:25786 RHEB gene RHEB Expert Review Amber;Victorian Clinical Genetics Services;Other Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short stature, macrocephaly, intellectual disability and autism spectrum disorder 29051493 False 2 50;0;50 44.654 False ENSG00000106615 ENSG00000106615 HGNC:10011 RIC1 gene RIC1 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal CATIFA syndrome 618761;Cleft lip;cataract;tooth abnormality;intellectual disability;facial dysmorphism;ADHD 31932796;27878435 False 2 0;100;0 44.654 False ENSG00000107036 ENSG00000107036 HGNC:17686 RMRP gene RMRP Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia, 250250;Metaphyseal dysplasia without; hypotrichosis, 250460;Anauxetic dysplasia, 607095 False 2 100;0;0 44.654 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASET2 gene RNASET2 London North GLH;NHS GMS;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism);Inherited white matter disorders 27604308 False 2 0;100;0 44.654 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF220 gene RNF220 Expert Review Amber;Other;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, MONDO:0001071 33964137;10881263 False 2 100;0;0 44.654 False ENSG00000187147 ENSG00000187147 HGNC:25552 RNPC3 gene RNPC3 Expert Review Amber;Literature;Expert Review Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 24480542;29866761;32462814;33650182 False 2 0;100;0 44.654 False ENSG00000185946 ENSG00000185946 HGNC:18666 RNU4ATAC gene RNU4ATAC Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Lowry-Wood syndrome, OMIM:226960;Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710;Roifman syndrome, OMIM:616651 False 2 100;0;0 44.654 False ENSG00000264229 ENSG00000264229 HGNC:34016 RNU6ATAC gene RNU6ATAC Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;Immune dysregulation, HP:0002958;neonatal diabetes mellitus, MONDO:0016391 40975062;41864208;41808409 False 2 100;0;0 44.654 False ENSG00000221676 ENSG00000221676 HGNC:34017 RPS23 gene RPS23 Victorian Clinical Genetics Services;Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Brachycephaly, trichomegaly, and developmental delay 617412" 28257692 False 2 0;0;0 44.654 False ENSG00000186468 ENSG00000186468 HGNC:10410 RPS6KC1 gene RPS6KC1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41130203 False 2 100;0;0 44.654 False ENSG00000136643 ENSG00000136643 HGNC:10439 RSF1 gene RSF1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 41606215 False 2 100;0;0 44.654 False ENSG00000048649 ENSG00000048649 HGNC:18118 RUNX1T1 gene RUNX1T1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 22644616;39568205 False 2 0;100;0 44.654 False ENSG00000079102 ENSG00000079102 HGNC:1535 RUSC2 gene RUSC2 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 61 617773 27612186 False 2 0;100;0 44.654 False ENSG00000198853 ENSG00000198853 HGNC:23625 RYR1 gene RYR1 Expert Review Amber Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rhabdomyolysis and metabolic muscle disorders False 2 0;100;0 44.654 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR2 gene RYR2 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 30170228 False 2 100;0;0 44.654 False ENSG00000198626 ENSG00000198626 HGNC:10484 SACS gene SACS Victorian Clinical Genetics Services;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, 270550; Autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS; Intellectual disability 28843771; 20876471;28658676; 27871429 False 2 25;75;0 44.654 False ENSG00000151835 ENSG00000151835 HGNC:10519 SALL1 gene SALL1 Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome 1, 107480; TBS 6741990; 29110636;27277004;1951448;10051003;20301618 False 2 50;0;50 44.654 False ENSG00000103449 ENSG00000103449 HGNC:10524 SCN1B gene SCN1B NHS GMS;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 52, OMIM:617350;Developmental and epileptic encephalopathy, 52, MONDO:0033361 18464934;19710327;23148524;28218389 False 2 40;40;20 44.654 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCNM1 gene SCNM1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIX, OMIM:620107;orofaciodigital syndrome 19, MONDO:0859310 36084634;41291844 False 2 100;0;0 44.654 False ENSG00000163156 ENSG00000163156 HGNC:23136 SDHAF2 gene SDHAF2 London North GLH;NHS GMS;Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial Diseases;Isolated complex II deficiency;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Multiple Tumours 27604308 False 2 33;33;33 44.654 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC London North GLH;NHS GMS;Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial Diseases;Isolated complex II deficiency;Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Multiple Tumours 27604308 False 2 50;50;0 44.654 False ENSG00000143252 ENSG00000143252 HGNC:10682 SEC31A gene SEC31A Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 30464055 False 2 0;100;0 44.654 False ENSG00000138674 ENSG00000138674 HGNC:17052 SETX gene SETX Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;UKGTN;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 15106121;12023320 False 2 0;100;0 44.654 False ENSG00000107290 ENSG00000107290 HGNC:445 SGSM3 gene SGSM3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 37833060 False 2 0;100;0 44.654 False ENSG00000100359 ENSG00000100359 HGNC:25228 SHROOM4 gene SHROOM4 Victorian Clinical Genetics Services;Expert Review Amber;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females neurodevelopmental disorder, MONDO:0700092;X-linked intellectual disability, Stocco dos Santos type, MONDO:0010325 12673656;16249884;20613765;25167861;26740508;32565546;32728808;35663265;36379543;40905141 False 2 0;50;50 44.654 False ENSG00000158352 ENSG00000158352 HGNC:29215 SKOR2 gene SKOR2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386;Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707 29997391;40890458;41821366 False 2 100;0;0 44.654 False ENSG00000215474 ENSG00000215474 HGNC:32695 SLC12A9 gene SLC12A9 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects;neurodevelopmental disorder, MONDO:0700092 38334070 False 2 100;0;0 44.654 False ENSG00000146828 ENSG00000146828 HGNC:17435 SLC25A26 gene SLC25A26 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY False 2 100;0;0 44.654 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A38 gene SLC25A38 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 False 2 100;0;0 44.654 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A42 gene SLC25A42 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 26541337;29923093;29327420 False 2 0;33;67 44.654 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC26A2 gene SLC26A2 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Diastrophic dysplasia, 222600;Atelosteogenesis II, 256050;Achondrogenesis Ib, 600972;Epiphyseal dysplasia, multiple, 4, 226900;Diastrophic dysplasia, broad bone-platyspondylic variant, 222600;De la; Chapelle dysplasia, 256050 False 2 100;0;0 44.654 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC27A4 gene SLC27A4 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis prematurity syndrome, 608649 False 2 100;0;0 44.654 False ENSG00000167114 ENSG00000167114 HGNC:10998 SLC2A2 gene SLC2A2 Victorian Clinical Genetics Services;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal {Diabetes mellitus, noninsulin-dependent}, 135853; Fanconi-Bickel; syndrome, 227810 False 2 100;0;0 44.654 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 35913762;36562171 False 2 0;100;0 44.654 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC35A3 gene SLC35A3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089;28328131;28777481;16344554 False 2 100;0;0 44.654 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of the skeletal system;Short long bone;Short stature;Abnormality of epiphysis morphology;Scoliosis;Multiple joint dislocation;Global develpmental delay;Intellectual disability;CNS hypomyelination;Abnormality of the corpus callosum;Cerebral atrophy;Abnormality of the amniotic fluid 35325049 False 2 0;100;0 44.654 False ENSG00000157593 ENSG00000157593 HGNC:16872 SLC35D1 gene SLC35D1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia, 269250 False 2 100;0;0 44.654 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC39A13 gene SLC39A13 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 False 2 100;0;0 44.654 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLC45A1 gene SLC45A1 Victorian Clinical Genetics Services;Expert Review Amber;Other Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features, 617532 28434495; 27431290 False 2 0;100;0 44.654 False ENSG00000162426 ENSG00000162426 HGNC:17939 SLC4A1 gene SLC4A1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ovalocytosis; Spherocytosis, type 4, 612653; [Malaria, resistance to], 611162; Renal tubular acidosis, distal, AD, 179800; Renal tubular acidosis, distal, AR, 611590; [Blood group, Diego], 110500; [Blood group, Waldner], 112010; [Blood group, Wright], 112050; [Blood group, Froese], 601551; [Blood group, Swann], 601550 False 2 100;0;0 44.654 False Other - please provide details in the comments ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A11 gene SLC4A11 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Corneal endothelial dystrophy 2, autosomal recessive, 217700;Corneal endothelial dystrophy and perceptive deafness, 217400;Corneal dystrophy, Fuchs endothelial, 4, 613268 False 2 100;0;0 44.654 False ENSG00000088836 ENSG00000088836 HGNC:16438 SLC5A5 gene SLC5A5 Victorian Clinical Genetics Services;Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 2 100;0;0 44.654 False ENSG00000105641 ENSG00000105641 HGNC:11040 SLC6A5 gene SLC6A5 Expert Review Amber;Literature Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, OMIM:614618;hyperekplexia 3, MONDO:0013827 16751771;22753417 False 2 100;0;0 44.654 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC9A7 gene SLC9A7 Expert Review Amber;Expert list Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108, OMIM:301024;Intellectual developmental disorder, X-linked 108, MONDO:0026723 30335141 False 2 0;100;0 44.654 False ENSG00000065923 ENSG00000065923 HGNC:17123 SLITRK2 gene SLITRK2 Expert Review Amber;Literature;NHS GMS Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked 111, OMIM:301107;intellectual developmental disorder, X-linked 111, MONDO:0957203 35840571;38283150 False 2 100;0;0 44.654 False ENSG00000185985 ENSG00000185985 HGNC:13449 SMAD3 gene SMAD3 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome, type 3, 613795 False 2 33;33;33 44.654 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMARCD2 gene SMARCD2 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency 2, 617475 (includes global developmental delay in some patients) 26350204; 28369036 False 2 0;33;67 44.654 False ENSG00000108604 ENSG00000108604 HGNC:11107 SMG9 gene SMG9 Expert Review Amber;Literature;Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Heart and brain malformation syndrome, 616920 27018474;30914295;31390136 False 2 100;0;0 44.654 False ENSG00000105771 ENSG00000105771 HGNC:25763 SOX3 gene SOX3 Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency, OMIM:300123;X-linked intellectual disability with isolated growth hormone deficiency, MONDO:0019032 8826446;12428212;15800844;24896178;25402377;25529582;29175558;30125608;35114986;35295983 False 2 50;50;0 44.654 False ENSG00000134595 ENSG00000134595 HGNC:11199 SOX9 gene SOX9 NHS GMS;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Campomelic dysplasia with autosomal sex reversal, OMIM:114290;Acampomelic campomelic dysplasia, OMIM:114290;Campomelic dysplasia, OMIM:114290;campomelic dysplasia, MONDO:0007251 25529582;21373255;24704791 False 2 40;60;0 44.654 False ENSG00000125398 ENSG00000125398 HGNC:11204 SPTAN1 gene SPTAN1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy, MONDO:0018949 40023774;40999194 False 2 100;0;0 44.654 False ENSG00000197694 ENSG00000197694 HGNC:11273 SRGAP3 gene SRGAP3 Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 3p- syndrome, MIM:613792 (includes intellectual disability) 24300292; 12195014; 19760623; 21082655; 26350204 False 2 0;33;67 44.654 False ENSG00000196220 ENSG00000196220 HGNC:19744 SRP54 gene SRP54 Expert Review Amber;Literature;Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic neutropenia with Shwachman-Diamond-like features 28972538;30914295 False 2 0;0;0 44.654 False ENSG00000100883 ENSG00000100883 HGNC:11301 SRPK3 gene SRPK3 Expert Review Amber;Literature Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Slowly progressive myopathy, digenic 16140986;38429495;39667923 False 2 100;0;0 44.654 False ENSG00000184343 ENSG00000184343 HGNC:11402 SSR3 gene SSR3 Literature;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 44.654 False ENSG00000114850 ENSG00000114850 HGNC:11325 STAT2 gene STAT2 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44 616636;elongated mitochondria;severe neurological deterioration following viral infection PMID: 26122121 False 2 75;0;25 44.654 False ENSG00000170581 ENSG00000170581 HGNC:11363 SUCLA2 gene SUCLA2 Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 27913098;15877282;23759946;17287286;17301081 False 2 100;0;0 44.654 False ENSG00000136143 ENSG00000136143 HGNC:11448 SVIL gene SVIL Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 32779703 False 2 0;100;0 44.654 False ENSG00000197321 ENSG00000197321 HGNC:11480 SVIL gene SVIL Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 False 2 0;100;0 44.654 False ENSG00000197321 ENSG00000197321 HGNC:11480 TAB2 gene TAB2 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, nonsyndromic, 2, OMIM:614980 35971781 False 2 25;50;25 44.654 False Other - please provide details in the comments ENSG00000055208 ENSG00000055208 HGNC:17075 TAF13 gene TAF13 Victorian Clinical Genetics Services;Expert Review Amber;Literature;Other Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 60 617432" 28257693 False 2 0;0;0 44.654 False ENSG00000197780 ENSG00000197780 HGNC:11546 TAF1C gene TAF1C Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Spasticity;Strabismus;Seizures;Abnormality of nervous system morphology 32779182 False 2 0;100;0 44.654 False ENSG00000103168 ENSG00000103168 HGNC:11534 TBX1 gene TBX1 Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 22q11.2 deletion syndrome, Orphanet:567 (includes developmental delay); DiGeorge syndrome, 188400 (includes mild to moderate learning difficulties); Velocardiofacial syndrome, 192430 (includes learning disability and mental retardation) 17377518 False 2 25;75;0 44.654 False ENSG00000184058 ENSG00000184058 HGNC:11592 TCAP gene TCAP Expert Review Amber;Emory Genetics Laboratory Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 23479141;21530252 False 2 0;50;50 44.654 False ENSG00000173991 ENSG00000173991 HGNC:11610 TCP1 gene TCP1 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021;intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124 39480921 False 2 100;0;0 44.654 False ENSG00000120438 ENSG00000120438 HGNC:11655 TDP1 gene TDP1 Expert Review Amber;NHS GMS;Expert list;Emory Genetics Laboratory;UKGTN;South West GLH Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 12244316;31182267;39576382 False 2 33;50;17 44.654 False ENSG00000042088 ENSG00000042088 HGNC:18884 TERT gene TERT Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 False 2 50;50;0 44.654 False Other - please provide details in the comments ENSG00000164362 ENSG00000164362 HGNC:11730 TGFB1 gene TGFB1 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213 29483653 False 2 50;50;0 44.654 False Other - please provide details in the comments ENSG00000105329 ENSG00000105329 HGNC:11766 THRB gene THRB Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal compromised intellectual development 22319036; 1682340 False 2 0;33;67 44.654 False ENSG00000151090 ENSG00000151090 HGNC:11799 TK2 gene TK2 Expert Review Amber;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 22345218;23303857;24198295;25948719;35280287;37527940;38544965;40098049 False 2 100;0;0 44.654 False ENSG00000166548 ENSG00000166548 HGNC:11831 TK2 gene TK2 Expert Review Amber;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 11687801;18021809;18819985;19736010;38544965;40098049 False 2 100;0;0 44.654 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166548 ENSG00000166548 HGNC:11831 TKFC gene TKFC Expert Review Amber;Expert list Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, 618805 32004446 False 2 0;100;0 44.654 False ENSG00000149476 ENSG00000149476 HGNC:24552 TKFC gene TKFC Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, 618805 32004446 False 2 0;100;0 44.654 False ENSG00000149476 ENSG00000149476 HGNC:24552 TKT gene TKT Expert Review Amber;Literature;Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, developmental delay, and congenital heart defects, 617044 27259054;30914295 False 2 0;0;0 44.654 False ENSG00000163931 ENSG00000163931 HGNC:11834 TM2D3 gene TM2D3 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurocardiorenal malformation syndrome, OMIM:621379 40449487 False 2 100;0;0 44.654 False ENSG00000184277 ENSG00000184277 HGNC:24128 TMEM231 gene TMEM231 Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, 614970 (includes developmental delay) 23012439; 27449316 False 2 0;33;67 44.654 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM65 gene TMEM65 Expert list;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal TMEM65 related mitochondrial encephalopmyopathy 28295037 False 2 0;0;0 44.654 False ENSG00000164983 ENSG00000164983 HGNC:25203 TMLHE gene TMLHE Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females {Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability) 39845198;23092983 False 2 0;0;100 44.654 False ENSG00000185973 ENSG00000185973 HGNC:18308 TNIK gene TNIK Victorian Clinical Genetics Services;Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 54, 617028 27106596 False 2 0;100;0 44.654 False ENSG00000154310 ENSG00000154310 HGNC:30765 TOMM70 gene TOMM70 Expert Review Amber;Literature Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe anaemia, lactic acidosis;developmental delay;white matter abnormalities 31907385;32356556 False 2 0;100;0 44.654 False ENSG00000154174 ENSG00000154174 HGNC:11985 TRAK1 gene TRAK1 Expert Review Amber;Victorian Clinical Genetics Services Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 68, 618201 28940097;28364549;29846532 False 2 100;0;0 44.654 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAPPC10 gene TRAPPC10 Expert Review Amber;Other Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 30167849;35298461 False 2 0;67;33 44.654 False ENSG00000160218 ENSG00000160218 HGNC:11868 TRAPPC11 gene TRAPPC11 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy and intellectual disability 23830518;27707803 False 2 0;100;0 44.654 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC11 gene TRAPPC11 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 0;100;0 44.654 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC2L gene TRAPPC2L Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 30120216;32843486 False 2 0;100;0 44.654 False ENSG00000167515 ENSG00000167515 HGNC:30887 TRPC5 gene TRPC5 Expert Review Amber;DD-Gene2Phenotype Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females TRPC5-related neurodevelopmental disorder 36323681;33504798;28191890;23033978 False 2 0;0;100 44.654 False ENSG00000072315 ENSG00000072315 HGNC:12337 TSEN15 gene TSEN15 Expert Review Amber;Literature;Expert Review Amber;Radboud University Medical Center, Nijmegen;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 27392077;30914295;25558065 False 2 100;0;0 44.654 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSPAN7 gene TSPAN7 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females ntellectual developmental disorder, X-linked 58, OMIM:300210;intellectual disability, X-linked 58, MONDO:0010266 25529582;24896178;10655063;10449641;10655063;12376945;14735593;12070254;22511893;26290131 False 2 60;40;0 44.654 False ENSG00000156298 ENSG00000156298 HGNC:11854 TUBGCP4 gene TUBGCP4 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; mildly delayed development 25817018 False 2 0;100;0 44.654 False ENSG00000137822 ENSG00000137822 HGNC:16691 TWIST2 gene TWIST2 Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Barber-Say syndrome, 209885 (includes mental retardation in some patients); Focal facial dermal dysplasia 3, Setleis type, 227260 (can include intellectual disability and developmental delay) 26119818 False 2 50;50;0 44.654 False ENSG00000233608 ENSG00000233608 HGNC:20670 TYW1 gene TYW1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal cerebral palsy, MONDO:0006497;intellectual disability, MONDO:0001071 34077496 False 2 0;100;0 44.654 False ENSG00000198874 ENSG00000198874 HGNC:25598 UBE3C gene UBE3C Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, OMIM:620270 36401616 False 2 0;100;0 44.654 False ENSG00000009335 ENSG00000009335 HGNC:16803 UFC1 gene UFC1 Expert Review Amber;Literature;Expert Review Amber;Expert Review;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal global developmental delay with progressive microcephaly;Neurodevelopmental disorder with spasticity and poor growth, 618076 30914295 False 2 100;0;0 44.654 False ENSG00000143222 ENSG00000143222 HGNC:26941 UNC13A gene UNC13A Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myasthenic syndrome, MONDO:0018940;Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455 27648472;28192369;39634123 False 2 25;25;50 44.654 False ENSG00000130477 ENSG00000130477 HGNC:23150 UPB1 gene UPB1 Victorian Clinical Genetics Services;Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency, 613161 (can include mental retardation, developmental delay) 27553092; 22525402; 25638458; 15385443; 25445412 False 2 33;0;67 44.654 False ENSG00000100024 ENSG00000100024 HGNC:16297 UQCC3 gene UQCC3 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex III deficiency, nuclear type, 616111;Isolated complex III deficiency 28804536;25008109 False 2 100;0;0 44.654 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 44.654 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRQ gene UQCRQ Expert Review Amber;London North GLH;NHS GMS Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546;27604308 False 2 100;0;0 44.654 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 London North GLH;NHS GMS;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) 27604308;19304569;30619714 False 2 0;100;0 44.654 False ENSG00000159650 ENSG00000159650 HGNC:26444 USP27X gene USP27X Expert Review Amber Hypotonic infant Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation 105, 300984; Intellectual Disability; X-linked intellectual disability; XLID 25644381 False 2 0;33;67 44.654 False ENSG00000242013 ENSG00000273820 HGNC:13486 VAPB gene VAPB Expert Review Amber;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980;Amyotrophic lateral sclerosis 8, OMIM:608627 15372378 False 2 0;33;67 44.654 False ENSG00000124164 ENSG00000124164 HGNC:12649 VIPAS39 gene VIPAS39 Expert Review Amber;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 39736737;35151346;26019847 False 2 50;50;0 44.654 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 False 2 100;0;0 44.654 False ENSG00000184056 ENSG00000184056 HGNC:12712 VPS50 gene VPS50 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685;neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216 34037727;38876772 False 2 50;50;0 44.654 False ENSG00000004766 ENSG00000004766 HGNC:25956 VPS51 gene VPS51 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 13, MIM# 618606" 30624672;31207318 False 2 0;100;0 44.654 False ENSG00000149823 ENSG00000149823 HGNC:1172 VWA1 gene VWA1 Expert Review Amber;NHS GMS;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216;neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 33459760;39502942 False 2 0;100;0 44.654 False ENSG00000179403 ENSG00000179403 HGNC:30910 WASHC4 gene WASHC4 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 43, OMIM:615817 31953988;21498477 False 2 100;0;0 44.654 False ENSG00000136051 ENSG00000136051 HGNC:29174 WASHC5 gene WASHC5 Other;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome, OMIM:220210, Ritscher-Schinzel syndrome, MONDO:0019078 24065355;24916641;36130690 False 2 67;33;0 44.654 False ENSG00000164961 ENSG00000164961 HGNC:28984 WDR11 gene WDR11 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, MONDO:0001071;Microcephaly, MONDO:0001149;Short stature,HP:0004322 26350204;34413497 False 2 20;60;20 44.654 False ENSG00000120008 ENSG00000120008 HGNC:13831 WDR83 gene WDR83 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 19726548;28332277;37509073;41381792 False 2 0;100;0 44.654 False ENSG00000123154 ENSG00000123154 HGNC:32672 WDR91 gene WDR91 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Abnormal brain morphology, HP:0012443;Neurodevelopmental delay, HP:0012758 32732226;34028500;34791078;38041506;40550703 False 2 100;0;0 44.654 False ENSG00000105875 ENSG00000105875 HGNC:24997 WSB2 gene WSB2 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Luo-Agrawal neurodevelopmental syndrome, OMIM:621552;neurodevelopmental disorder, MONDO:0700092 40374945 False 2 100;0;0 44.654 False ENSG00000176871 ENSG00000176871 HGNC:19222 XPA gene XPA Expert Review Amber;Radboud University Medical Center, Nijmegen Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, OMIM: 278700 26302748;25566891;24135642;39621777 False 2 33;33;33 44.654 False ENSG00000136936 ENSG00000136936 HGNC:12814 YARS gene YARS Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, dominant intermediate C 608323;Intellectual disability;deafness;nystagmus;liver dysfunction 30304524;29232904;27633801 False 2 50;50;0 44.654 False ENSG00000134684 ENSG00000134684 HGNC:12840 YME1L1 gene YME1L1 Expert list;Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 27495975 False 2 0;0;0 44.654 False ENSG00000136758 ENSG00000136758 HGNC:12843 ZBTB11 gene ZBTB11 Expert Review Amber;Expert Review;Expert Review Amber;Expert Review;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 69, OMIM:618383 29893856;28382966 False 2 0;100;0 44.654 False ENSG00000066422 ENSG00000066422 HGNC:16740 ZC3H14 gene ZC3H14 Expert Review Amber Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 56, 617125; intellectual disability 26350204; 21734151 False 2 0;50;50 44.654 False ENSG00000100722 ENSG00000100722 HGNC:20509 ZFP57 gene ZFP57 Victorian Clinical Genetics Services;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 1, 601410 23150280 False 2 50;50;0 44.654 False ENSG00000204644 ENSG00000204644 HGNC:18791 ZNF148 gene ZNF148 Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 27964749 False 2 50;50;0 44.654 False ENSG00000163848 ENSG00000163848 HGNC:12933 ZNF407 gene ZNF407 Expert Review Amber;Literature Hypotonic infant Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Global developmental delay;Intellectual disability 24907849;32737394;23195952 False 2 0;100;0 44.654 False ENSG00000215421 ENSG00000215421 HGNC:19904 ZNF668 gene ZNF668 Expert Review Amber;Literature Hypotonic infant Developmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194;neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MONDO:0859350 34313816;26633546 False 2 0;100;0 44.654 False ENSG00000167394 ENSG00000167394 HGNC:25821 ZNF865 gene ZNF865 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40936200 False 2 100;0;0 44.654 False ENSG00000261221 ENSG00000261221 HGNC:38705 ZNRF3 gene ZNRF3 Expert Review Amber;Literature Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder, MONDO:0100038 39168120 False 2 0;100;0 44.654 False ENSG00000183579 ENSG00000183579 HGNC:18126 ATXN10_ATTCT str ATXN10 Expert Review Amber;NHS GMS;Expert list Hypotonic infant Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 12164725 False 2 50;50;0 44.654 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 PABPN1_GCN str PABPN1 Expert Review Amber;Literature Hypotonic infant Developmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy, OMIM:164300;oculopharyngeal muscular dystrophy, MONDO:0008116 27858728;28011929 False 2 100;0;0 44.654 False ENSG00000100836 ENSG00000100836 HGNC:8565 14 23790682 23790711 23321473 23321501 GCN 10 11