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
AAAS	gene	AAAS	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279				20931227;25529582		False	3	100;0;0	9.382	False		ENSG00000094914	ENSG00000094914	HGNC:13666													
AARS	gene	AARS	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 29, OMIM:616339;Developmental and epileptic encephalopathy, 29, MONDO:0014593				25817015		False	3	33;67;0	9.382	False		ENSG00000090861	ENSG00000090861	HGNC:20													
AASS	gene	AASS	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388				934735;10775527		False	3	33;67;0	9.382	False		ENSG00000008311	ENSG00000008311	HGNC:17366													
ABAT	gene	ABAT	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	GABA-transaminase deficiency, 613163;developmental delay				27596361;28411234;29517884;29631977;27903293		False	3	80;0;20	9.382	False		ENSG00000183044	ENSG00000183044	HGNC:23													
ABCA2	gene	ABCA2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808;Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930				30237576;29302074;31047799		False	3	100;0;0	9.382	False		ENSG00000107331	ENSG00000107331	HGNC:32													
ABCC9	gene	ABCC9	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability and myopathy syndrome, OMIM:619719;intellectual disability and myopathy syndrome, MONDO:0859224				25529582;24896178;31575858;38217872		False	3	67;0;33	9.382	False		ENSG00000069431	ENSG00000069431	HGNC:60													
ABCD1	gene	ABCD1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100						False	3	100;0;0	9.382	False		ENSG00000101986	ENSG00000101986	HGNC:61													
ABCD4	gene	ABCD4	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblJ type, 614857;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE; MAHCJ						False	3	100;0;0	9.382	False		ENSG00000119688	ENSG00000119688	HGNC:68													
ABHD16A	gene	ABHD16A	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia;Intellectual disability				34587489		False	3	100;0;0	9.382	False		ENSG00000204427	ENSG00000204427	HGNC:13921													
ABHD5	gene	ABHD5	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Chanarin-Dorfman syndrome, OMIM:275630						False	3	33;0;67	9.382	False		ENSG00000011198	ENSG00000011198	HGNC:21396													
ACACA	gene	ACACA	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Acetyl-CoA carboxylase deficiency, OMIM: 613933				6114432;34552920;36709796		False	3	50;50;0	9.382	False		ENSG00000132142	ENSG00000278540	HGNC:84													
ACAD9	gene	ACAD9	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	ACAD9 deficiency, 611126;ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000177646	ENSG00000177646	HGNC:21497													
ACADM	gene	ACADM	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY				7603790;1684086;1972503;7929823;6434827;11409868;9158144;11349232		False	3	33;67;0	9.382	False		ENSG00000117054	ENSG00000117054	HGNC:89													
ACADS	gene	ACADS	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Acyl-CoA dehydrogenase, short-chain, deficiency of  201470						False	3	100;0;0	9.382	False	Other - please provide details in the comments 	ENSG00000122971	ENSG00000122971	HGNC:90													
ACBD6	gene	ACBD6	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785				21937992;32108178;36457943;37951597		False	3	33;33;33	9.382	False		ENSG00000230124	ENSG00000230124	HGNC:23339													
ACER3	gene	ACER3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, progressive, early childhood-onset, OMIM:617762				26792856;32816236;34281620		False	3	50;50;0	9.382	False		ENSG00000078124	ENSG00000078124	HGNC:16066													
ACO2	gene	ACO2	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Infantile cerebellar-retinal degeneration, OMIM:614559;Infantile cerebellar-retinal degeneration, MONDO:0013802				22405087;25351951;34056600		False	3	0;100;0	9.382	False		ENSG00000100412	ENSG00000100412	HGNC:118													
ACOX1	gene	ACOX1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470;Mitchell syndrome, OMIM:618960						False	3	100;0;0	9.382	False		ENSG00000161533	ENSG00000161533	HGNC:119													
ACSL4	gene	ACSL4	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 63, OMIM:300387;Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, MONDO:0010263				12525535;11889465		False	3	100;0;0	9.382	False		ENSG00000068366	ENSG00000068366	HGNC:3571													
ACTB	gene	ACTB	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310;BARAITSER-WINTER SYNDROME				22366783;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000075624	ENSG00000075624	HGNC:132													
ACTG1	gene	ACTG1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583;BARAITSER-WINTER SYNDROME						False	3	100;0;0	9.382	False		ENSG00000184009	ENSG00000184009	HGNC:144													
ACTL6A	gene	ACTL6A	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	developmental delay; intellectual disability				28649782		False	3	33;0;67	9.382	False		ENSG00000136518	ENSG00000136518	HGNC:24124													
ACTL6B	gene	ACTL6B	Expert Review Green	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 76, OMIM:618468;Intellectual developmental disorder with severe speech and ambulation defects, OMIM:618470				26350204;31031012;30656450;26539891;27171548;30237576		False	3	25;0;75	9.382	False		ENSG00000077080	ENSG00000077080	HGNC:160													
ACY1	gene	ACY1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aminoacylase 1 deficiency, 609924;AMINOACYLASE-1 DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000243989	ENSG00000243989	HGNC:177													
ADAM22	gene	ADAM22	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Epileptic encephalopathy, early infantile, 61 OMIM:617933;developmental and epileptic encephalopathy, 61 MONDO:0033370				27066583;30237576		False	3	100;0;0	9.382	False		ENSG00000008277	ENSG00000008277	HGNC:201													
ADAR	gene	ADAR	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400						False	3	100;0;0	9.382	False		ENSG00000160710	ENSG00000160710	HGNC:225													
ADARB1	gene	ADARB1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862				32220291;32719099		False	3	100;0;0	9.382	False		ENSG00000197381	ENSG00000197381	HGNC:226													
ADAT3	gene	ADAT3	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286				23620220;26842963;30296593;29796286		False	3	100;0;0	9.382	False		ENSG00000213638	ENSG00000213638	HGNC:25151													
ADD1	gene	ADD1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability;Seizures;Ventriculomegaly;Abnormality of the corpus callosum				34906466		False	3	50;50;0	9.382	False		ENSG00000087274	ENSG00000087274	HGNC:243													
ADD3	gene	ADD3	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebral palsy, spastic quadriplegic, 3, MIM#617008				29768408;23836506		False	3	100;0;0	9.382	False		ENSG00000148700	ENSG00000148700	HGNC:245													
ADGRG1	gene	ADGRG1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria, bilateral frontoparietal, 606854						False	3	100;0;0	9.382	False		ENSG00000205336	ENSG00000205336	HGNC:4512													
ADGRL1	gene	ADGRL1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065				30504930;35907405		False	3	100;0;0	9.382	False		ENSG00000072071	ENSG00000072071	HGNC:20973													
ADK	gene	ADK	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypermethioninemia due to adenosine kinase deficiency  614300						False	3	33;0;67	9.382	False		ENSG00000156110	ENSG00000156110	HGNC:257													
ADNP	gene	ADNP	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28; MRD28				24531329		False	3	100;0;0	9.382	False		ENSG00000101126	ENSG00000101126	HGNC:15766													
ADSL	gene	ADSL	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	ade(-)I bifunctional Adenylosuccinase deficiency, 103050;ADENYLOSUCCINASE DEFICIENCY (ADSL DEFICIENCY)						False	3	100;0;0	9.382	False		ENSG00000239900	ENSG00000239900	HGNC:291													
AFF2	gene	AFF2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked 109, OMIM:309548;FRAXE intellectual disability, MONDO:0010659				21739600;22065534;25529582;24896178;8334699;8023854;21739600;9299237;11171404;11923441;19136466;2356291		False	3	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000155966	ENSG00000155966	HGNC:3776													
AFF3	gene	AFF3	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	KINSSHIP syndrome, OMIM:619297				18616733;21677750;25660031;31388108;33961779		False	3	67;33;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000144218	ENSG00000144218	HGNC:6473													
AFF4	gene	AFF4	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CORNELIA DE LANGE-LIKE SYNDROME				25730767		False	3	50;50;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000072364	ENSG00000072364	HGNC:17869													
AGA	gene	AGA	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aspartylglucosaminuria, 208400;ASPARTYLGLUCOSAMINURIA (AGU)						False	3	100;0;0	9.382	False		ENSG00000038002	ENSG00000038002	HGNC:318													
AGO1	gene	AGO1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292				26350204;30213762;22495306;23020937;25363768;25356899;27620904;29346770;28135719;34930816		False	3	40;0;60	9.382	False		ENSG00000092847	ENSG00000092847	HGNC:3262													
AGO2	gene	AGO2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;regression;seizures				33199684		False	3	50;50;0	9.382	False		ENSG00000123908	ENSG00000123908	HGNC:3263													
AGTPBP1	gene	AGTPBP1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276				30420557		False	3	100;0;0	9.382	False		ENSG00000135049	ENSG00000135049	HGNC:17258													
AHCY	gene	AHCY	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752				15024124;16435181;16736098;20852937;22959829;26095522;26527160;28779239;30121674;31957987		False	3	25;0;75	9.382	False		ENSG00000101444	ENSG00000101444	HGNC:343													
AHDC1	gene	AHDC1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	XIA-GIBBS SYNDROME				24791903		False	3	33;67;0	9.382	False		ENSG00000126705	ENSG00000126705	HGNC:25230													
AHI1	gene	AHI1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 3  608629				15322546; 16453322		False	3	50;0;50	9.382	False		ENSG00000135541	ENSG00000135541	HGNC:21575													
AIFM1	gene	AIFM1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Cowchock syndrome, OMIM:310490;Combined oxidative phosphorylation deficiency 6, OMIM:300816;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232						False	3	100;0;0	9.382	False		ENSG00000156709	ENSG00000156709	HGNC:8768													
AIMP1	gene	AIMP1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 3, OMIM:260600						False	3	100;0;0	9.382	False		ENSG00000164022	ENSG00000164022	HGNC:10648													
AKT3	gene	AKT3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937				22729224;22500628		False	3	100;0;0	9.382	False		ENSG00000117020	ENSG00000117020	HGNC:393													
ALDH18A1	gene	ALDH18A1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIIA, 219150;SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9						False	3	100;0;0	9.382	False		ENSG00000059573	ENSG00000059573	HGNC:9722													
ALDH3A2	gene	ALDH3A2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sjogren-Larsson syndrome, OMIM:270200						False	3	100;0;0	9.382	False		ENSG00000072210	ENSG00000072210	HGNC:403													
ALDH4A1	gene	ALDH4A1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperprolinemia, type II, 239510;HYPERPROLINEMIA TYPE 2 (HP-2)						False	3	100;0;0	9.382	False		ENSG00000159423	ENSG00000159423	HGNC:406													
ALDH5A1	gene	ALDH5A1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Succinic semialdehyde dehydrogenase deficiency OMIM:271980;succinic semialdehyde dehydrogenase deficiency MONDO:0010083				9683595;14635103;32402538;16542398		False	3	100;0;0	9.382	False		ENSG00000112294	ENSG00000112294	HGNC:408													
ALDH7A1	gene	ALDH7A1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PYRIDOXINE-DEPENDENT EPILEPSY				17068770;16491085;17721876		False	3	33;67;0	9.382	False		ENSG00000164904	ENSG00000164904	HGNC:877													
ALG1	gene	ALG1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ik, 608540;ALG1-CDG (CDG-IK)						False	3	100;0;0	9.382	False		ENSG00000033011	ENSG00000033011	HGNC:18294													
ALG11	gene	ALG11	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ip 613661;ALG11-CDG (CDG-IP)				27604308;22213132;20080937		False	3	0;100;0	9.382	False		ENSG00000253710	ENSG00000253710	HGNC:32456													
ALG12	gene	ALG12	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G (CDG1G)				12093361;11983712;12217961		False	3	100;0;0	9.382	False		ENSG00000182858	ENSG00000182858	HGNC:19358													
ALG13	gene	ALG13	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	EPILEPTIC ENCEPHALOPATHIES.				22492991		False	3	100;0;0	9.382	False		ENSG00000101901	ENSG00000101901	HGNC:30881													
ALG3	gene	ALG3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Id, 601110;ALG3-CDG (CDG-ID)				0		False	3	100;0;0	9.382	False		ENSG00000214160	ENSG00000214160	HGNC:23056													
ALG6	gene	ALG6	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ic, 603147;ALG6-CDG (CDG-IC)				0		False	3	100;0;0	9.382	False		ENSG00000088035	ENSG00000088035	HGNC:23157													
ALG8	gene	ALG8	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ih, 608104;ALG8-CDG (CDG-IH)				26066342,23430830,19688606;25529582		False	3	100;0;0	9.382	False		ENSG00000159063	ENSG00000159063	HGNC:23161													
ALG9	gene	ALG9	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental delay;Congenital disorder of glycosylation, type Il 608776;Gillessen-Kaesbach-Nishimura syndrome 263210				15945070;15148656;28932688;26453364		False	3	25;50;25	9.382	False		ENSG00000086848	ENSG00000086848	HGNC:15672													
ALKBH8	gene	ALKBH8	Expert Review;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 71, OMIM:618504				31130284;31079898;33544954;34757492;35571055		False	3	100;0;0	9.382	False		ENSG00000137760	ENSG00000137760	HGNC:25189													
ALMS1	gene	ALMS1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	ALSTROM SYNDROME, 203800				17594715;11941370;11941369;9063741;21877133;17850632		False	3	33;67;0	9.382	False		ENSG00000116127	ENSG00000116127	HGNC:428													
AMER1	gene	AMER1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Osteopathia striata with cranial sclerosis 300373						False	3	100;0;0	9.382	False		ENSG00000184675	ENSG00000184675	HGNC:26837													
AMPD2	gene	AMPD2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PONTOCEREBELLAR HYPOPLASIA;Pontocerebellar hypoplasia, type 9, 615809				23911318		False	3	33;67;0	9.382	False		ENSG00000116337	ENSG00000116337	HGNC:469													
AMT	gene	AMT	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy, 605899;GLYCINE ENCEPHALOPATHY						False	3	100;0;0	9.382	False		ENSG00000145020	ENSG00000145020	HGNC:473													
ANK2	gene	ANK2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Complex neurodevelopmental disorder, MONDO:0100038				22542183;25363768;27479843;28554332;30564305;30755392;31981491;33004838;33057194		False	3	100;0;0	9.382	False		ENSG00000145362	ENSG00000145362	HGNC:493													
ANK3	gene	ANK3	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 37, OMIM:615493;intellectual disability-hypotonia-spasticity-sleep disorder syndrome, MONDO:0014210				23390136;28687526;34218362		False	3	67;0;33	9.382	False		ENSG00000151150	ENSG00000151150	HGNC:494													
ANKRD11	gene	ANKRD11	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	KBG syndrome, 148050;KBG SYNDROME				15378538;21782149;15523620;25529582;24896178;25424714;28250421		False	3	100;0;0	9.382	False		ENSG00000167522	ENSG00000167522	HGNC:21316													
ANKRD17	gene	ANKRD17	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, speech delay, and dysmorphism				33909992		False	3	100;0;0	9.382	False		ENSG00000132466	ENSG00000132466	HGNC:23575													
ANO4	gene	ANO4	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	sporadic encephalopathic and familial epilepsy				38744284		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000151572	ENSG00000151572	HGNC:23837													
AP1G1	gene	AP1G1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder (NDD);Intellectual Disability;Epilepsy				34102099		False	3	100;0;0	9.382	False		ENSG00000166747	ENSG00000166747	HGNC:555													
AP1S1	gene	AP1S1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MEDNIK syndrome, 609313;MEDNIK syndrome;mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome				23423674;26927810;19057675;24754424		False	3	100;0;0	9.382	False		ENSG00000106367	ENSG00000106367	HGNC:559													
AP1S2	gene	AP1S2	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Pettigrew syndrome, OMIM:304340				10398241;12599187;17186471;17617514;18428203;19377476;22210230;23756445;25649377;30383884;30714330		False	3	100;0;0	9.382	False		ENSG00000182287	ENSG00000182287	HGNC:560													
AP2M1	gene	AP2M1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder 60 with seizures, 618587;Seizures;Ataxia;Generalized hypotonia;Intellectual disability;Global developmental delay;Autistic behavior				31104773		False	3	50;50;0	9.382	False		ENSG00000161203	ENSG00000161203	HGNC:564													
AP3B1	gene	AP3B1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 2 608233				16551969		False	3	33;0;67	9.382	False		ENSG00000132842	ENSG00000132842	HGNC:566													
AP3B2	gene	AP3B2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 48 617276				27889060		False	3	100;0;0	9.382	False		ENSG00000103723	ENSG00000103723	HGNC:567													
AP4B1	gene	AP4B1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551						False	3	100;0;0	9.382	False		ENSG00000134262	ENSG00000134262	HGNC:572													
AP4E1	gene	AP4E1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 51, autosomal recessive, OMIM:613744;Hereditary spastic paraplegia 51, MONDO:0013401						False	3	100;0;0	9.382	False		ENSG00000081014	ENSG00000081014	HGNC:573													
AP4M1	gene	AP4M1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 50, autosomal recessive, 612936;CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 (CPSQ3)						False	3	100;0;0	9.382	False		ENSG00000221838	ENSG00000221838	HGNC:574													
AP4S1	gene	AP4S1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 52, autosomal recessive, 614067;CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6						False	3	100;0;0	9.382	False		ENSG00000100478	ENSG00000100478	HGNC:575													
APC2	gene	APC2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677				31585108;25753423;19759310;22573669		False	3	100;0;0	9.382	False		ENSG00000115266	ENSG00000115266	HGNC:24036													
APOPT1	gene	APOPT1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061				25175347		False	3	33;67;0	9.382	False		ENSG00000256053	ENSG00000256053	HGNC:20492													
ARCN1	gene	ARCN1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164				27476655		False	3	100;0;0	9.382	False		ENSG00000095139	ENSG00000095139	HGNC:649													
ARF1	gene	ARF1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Periventricular nodular heterotopia 8, OMIM:618185				28868155;34353862;36345169		False	3	100;0;0	9.382	False		ENSG00000143761	ENSG00000143761	HGNC:652													
ARF3	gene	ARF3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability, MONDO:0001071;Seizures;Morphological abnormality of the central nervous system;microcephaly, MONDO:0001149				34346499;36369169		False	3	67;33;0	9.382	False		ENSG00000134287	ENSG00000134287	HGNC:654													
ARFGEF1	gene	ARFGEF1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, MONDO:0001071;Epilepsy, MONDO:0005027;Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964				34113008		False	3	100;0;0	9.382	False		ENSG00000066777	ENSG00000066777	HGNC:15772													
ARFGEF2	gene	ARFGEF2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Periventricular heterotopia with microcephaly, 608097;PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY						False	3	100;0;0	9.382	False		ENSG00000124198	ENSG00000124198	HGNC:15853													
ARG1	gene	ARG1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Argininemia, OMIM:207800						False	3	100;0;0	9.382	False		ENSG00000118520	ENSG00000118520	HGNC:663													
ARHGEF9	gene	ARHGEF9	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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 8, OMIM:300607						False	3	100;0;0	9.382	False		ENSG00000131089	ENSG00000131089	HGNC:14561													
ARID1A	gene	ARID1A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 14, 614607;COFFIN-SIRIS SYNDROME; CSS						False	3	100;0;0	9.382	False		ENSG00000117713	ENSG00000117713	HGNC:11110													
ARID1B	gene	ARID1B	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 12, 614562;COFFIN SIRIS SYNDROME						False	3	100;0;0	9.382	False		ENSG00000049618	ENSG00000049618	HGNC:18040													
ARID2	gene	ARID2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Coffin-Siris syndrome 6, 617808;ARID2-Coffin-Siris like disorder				28124119;26238514;33051312		False	3	50;0;50	9.382	False		ENSG00000189079	ENSG00000189079	HGNC:18037													
ARL13B	gene	ARL13B	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 8, 612291;Intellectual disability				18674751;25138100;29255182;16541367		False	3	50;0;50	9.382	False		ENSG00000169379	ENSG00000169379	HGNC:25419													
ARL6	gene	ARL6	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575;BARDET-BIEDL SYNDROME TYPE 3 (BBS3)						False	3	100;0;0	9.382	False		ENSG00000113966	ENSG00000113966	HGNC:13210													
ARMC9	gene	ARMC9	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome; Intellectual Disability				28625504		False	3	100;0;0	9.382	False		ENSG00000135931	ENSG00000135931	HGNC:20730													
ARSA	gene	ARSA	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	ARYLSULFATASE A DEFICIENCY				7981715;11456299;1676699;1353340;1684088;2574462;11061266;8104633;9600244;1673291;8101038;7902317;7909527;7815433;1670590;7906588;12788103;1678251;7858169;7833949;8101083;11941485;7866401		False	3	33;67;0	9.382	False		ENSG00000100299	ENSG00000100299	HGNC:713													
ARSB	gene	ARSB	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6)				1718978;8651289;1550123;8723688;1301949;17643332		False	3	50;50;0	9.382	False		ENSG00000113273	ENSG00000113273	HGNC:714													
ARSE	gene	ARSE	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED				12567415;9409863;7720070		False	3	33;67;0	9.382	False		ENSG00000157399	ENSG00000157399	HGNC:719													
ARV1	gene	ARV1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 38				25558065;27270415;26479315		False	3	67;33;0	9.382	False		ENSG00000173409	ENSG00000173409	HGNC:29561													
ARX	gene	ARX	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215;MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX)						False	3	100;0;0	9.382	False		ENSG00000004848	ENSG00000004848	HGNC:18060													
ASAH1	gene	ASAH1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	FARBER LIPOGRANULOMATOSIS				16951918;8955159;11241842;10610716		False	3	33;67;0	9.382	False		ENSG00000104763	ENSG00000104763	HGNC:735													
ASCC3	gene	ASCC3	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 81, OMIM:620700				21937992;26350204;35047834;39286456		False	3	25;0;75	9.382	False		ENSG00000112249	ENSG00000112249	HGNC:18697													
ASH1L	gene	ASH1L	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 52, 617796;intellectual disability				25961944;26350204;29276005;29753921;28191889		False	3	50;0;50	9.382	False		ENSG00000116539	ENSG00000116539	HGNC:19088													
ASL	gene	ASL	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815				12408190; 12384776		False	3	50;0;50	9.382	False		ENSG00000126522	ENSG00000126522	HGNC:746													
ASNS	gene	ASNS	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Asparagine synthetase deficiency, 615574;congenital microcephaly, intellectual disability, progressive cerebral atrophy, intractable seizures				24139043;25227173;30234940;27743885;29375865;2566342;27422383;27469131		False	3	0;100;0	9.382	False		ENSG00000070669	ENSG00000070669	HGNC:753													
ASPA	gene	ASPA	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Canavan disease, 271900;CANAVAN DISEASE						False	3	100;0;0	9.382	False		ENSG00000108381	ENSG00000108381	HGNC:756													
ASPM	gene	ASPM	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 5, primary, autosomal recessive, OMIM:608716				12355089;14574646;16673149;18452193;19028728;19353628;19770472;22775483;27250695;30500859		False	3	100;0;0	9.382	False		ENSG00000066279	ENSG00000066279	HGNC:19048													
ASS1	gene	ASS1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Citrullinemia, 215700;intellectual disability				25529582;15266621;15334737;19006241		False	3	100;0;0	9.382	False		ENSG00000130707	ENSG00000130707	HGNC:758													
ASXL1	gene	ASXL1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bohring-Opitz syndrome, OMIM:605039;Bohring-Opitz syndrome, MONDO:0011510				21706002;22419483;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000171456	ENSG00000171456	HGNC:18318													
ASXL2	gene	ASXL2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Shashi-Pena syndrome 617190				27693232		False	3	100;0;0	9.382	False		ENSG00000143970	ENSG00000143970	HGNC:23805													
ASXL3	gene	ASXL3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bainbridge-Ropers syndrome, OMIM:615485				23383720;26647312;28100473;34436830		False	3	0;100;0	9.382	False		ENSG00000141431	ENSG00000141431	HGNC:29357													
ATAD1	gene	ATAD1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperekplexia 4, OMIM:618011				28180185;29390050;29659736		False	3	100;0;0	9.382	False		ENSG00000138138	ENSG00000138138	HGNC:25903													
ATAD3A	gene	ATAD3A	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Harel-Yoon syndrome 617183				27640307;25529582		False	3	100;0;0	9.382	False		ENSG00000197785	ENSG00000197785	HGNC:25567													
ATG7	gene	ATG7	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422				34161705		False	3	100;0;0	9.382	False		ENSG00000197548	ENSG00000197548	HGNC:16935													
ATIC	gene	ATIC	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	AICA-ribosiduria due to ATIC deficiency, 608688;AICA-RIBOSURIA (AICAR)						False	3	100;0;0	9.382	False		ENSG00000138363	ENSG00000138363	HGNC:794													
ATN1	gene	ATN1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494				30827498		False	3	75;0;25	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000111676	ENSG00000111676	HGNC:3033													
ATP13A2	gene	ATP13A2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PARKINSON DISEASE 9				0		False	3	33;67;0	9.382	False		ENSG00000159363	ENSG00000159363	HGNC:30213													
ATP1A1	gene	ATP1A1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypomagnesemia;Seizures;Intellectual disability				30388404		False	3	100;0;0	9.382	False		ENSG00000163399	ENSG00000163399	HGNC:799													
ATP1A2	gene	ATP1A2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Migraine, familial hemiplegic, 2 602481;Alternating hemiplegia of childhood 1, 104290				15159495;29610157;33880529		False	3	50;0;50	9.382	False		ENSG00000018625	ENSG00000018625	HGNC:800													
ATP1A3	gene	ATP1A3	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alternating Hemiplegia of Childhood (AHC), intellectual disability				22842232;29396171;29291920;22842232;28969699;32802951;33880529		False	3	40;60;0	9.382	False		ENSG00000105409	ENSG00000105409	HGNC:801													
ATP2B1	gene	ATP2B1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder, autosomal dominant 66, OMIM:619910				35358416;37926713		False	3	100;0;0	9.382	False		ENSG00000070961	ENSG00000070961	HGNC:814													
ATP6AP2	gene	ATP6AP2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic, Hedera type, 300423;MENTAL RETARDATION X-LINKED WITH EPILEPSY;X-linked intellectual disability, Hedera type				26467484;15746149;29127204;25529582;11782983		False	3	40;20;40	9.382	False		ENSG00000182220	ENSG00000182220	HGNC:18305													
ATP6V0A1	gene	ATP6V0A1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ATP6V0A1-related developmental disorder (monoallelic)				30842224;33057194;34909687;33833240		False	3	75;25;0	9.382	False		ENSG00000033627	ENSG00000033627	HGNC:865													
ATP6V0A2	gene	ATP6V0A2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIA 219200; Wrinkly skin syndrome 278250				 18157129; 22773132		False	3	33;0;67	9.382	False		ENSG00000185344	ENSG00000185344	HGNC:18481													
ATP6V0C	gene	ATP6V0C	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465				24623842;33090716;33190975;36074901;37161035		False	3	75;25;0	9.382	False		ENSG00000185883	ENSG00000185883	HGNC:855													
ATP6V1A	gene	ATP6V1A	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental and epileptic encephalopathy 93, OMIM:618012				29668857;28065471		False	3	100;0;0	9.382	False		ENSG00000114573	ENSG00000114573	HGNC:851													
ATP6V1B2	gene	ATP6V1B2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ZIMMERMANN-LABAND SYNDROME				25915598		False	3	0;100;0	9.382	False		ENSG00000147416	ENSG00000147416	HGNC:854													
ATP7A	gene	ATP7A	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489;OCCIPITAL HORN SYNDROME						False	3	100;0;0	9.382	False		ENSG00000165240	ENSG00000165240	HGNC:869													
ATP8A2	gene	ATP8A2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268;cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104				22892528;27679995;30012219;29531481;31612321;20683487		False	3	25;0;75	9.382	False		ENSG00000132932	ENSG00000132932	HGNC:13533													
ATP9A	gene	ATP9A	Expert Review Green;Literature;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability;Postnatal microcephaly;Failure to thrive;Abnormality of the abdomen;Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242				34379057;34764295;27626380		False	3	50;50;0	9.382	False		ENSG00000054793	ENSG00000054793	HGNC:13540													
ATR	gene	ATR	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 1, OMIM:210600						False	3	100;0;0	9.382	False		ENSG00000175054	ENSG00000175054	HGNC:882													
ATRX	gene	ATRX	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Alpha-thalassemia/mental retardation syndrome, 301040;Mental retardation-hypotonic facies syndrome, X-linked, 309580				25606380;17503331;16955409;25529582;24896178;26860117;26997013;10995512;7697714;12116232;15565397;8644709;9244431;9598720		False	3	100;0;0	9.382	False		ENSG00000085224	ENSG00000085224	HGNC:886													
ATXN7L3	gene	ATXN7L3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	syndromic neurodevelopmental disorder				38753057;33731875		False	3	100;0;0	9.382	False		ENSG00000087152	ENSG00000087152	HGNC:25416													
AUH	gene	AUH	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type I, 250950;3-METHYLGLUTACONIC ACIDURIA TYPE 1						False	3	100;0;0	9.382	False		ENSG00000148090	ENSG00000148090	HGNC:890													
AUTS2	gene	AUTS2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SYNDROMIC INTELLECTUAL DISABILITY				23332918		False	3	100;0;0	9.382	False		ENSG00000158321	ENSG00000158321	HGNC:14262													
B3GALNT2	gene	B3GALNT2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11				23453667		False	3	0;100;0	9.382	False		ENSG00000162885	ENSG00000162885	HGNC:28596													
B3GLCT	gene	B3GLCT	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peters-plus syndrome, 261540				16909395		False	3	0;0;100	9.382	False		ENSG00000187676	ENSG00000187676	HGNC:20207													
B4GALNT1	gene	B4GALNT1	Expert list;Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 26, autosomal recessive OMIM:609195;hereditary spastic paraplegia 26 MONDO:0012213				23746551;24103911		False	3	100;0;0	9.382	False		ENSG00000135454	ENSG00000135454	HGNC:4117													
B4GALT7	gene	B4GALT7	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, progeroid type, 1, 130070;EHLERS-DANLOS SYNDROME PROGEROID TYPE (EDSP)				3631078		False	3	33;0;67	9.382	False		ENSG00000027847	ENSG00000027847	HGNC:930													
B9D1	gene	B9D1	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927				21493627;24886560;25920555;32622957		False	3	60;40;0	9.382	False		ENSG00000108641	ENSG00000108641	HGNC:24123													
B9D2	gene	B9D2	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609				26092869;21763481;31411728		False	3	100;0;0	9.382	False		ENSG00000123810	ENSG00000123810	HGNC:28636													
BAP1	gene	BAP1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Kury-Isidor syndrome, OMIM:619762				35051358		False	3	100;0;0	9.382	False		ENSG00000163930	ENSG00000163930	HGNC:950													
BAZ2B	gene	BAZ2B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				31999386;37872713		False	3	100;0;0	9.382	False		ENSG00000123636	ENSG00000123636	HGNC:963													
BBS1	gene	BBS1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854				25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000174483	ENSG00000174483	HGNC:966													
BBS10	gene	BBS10	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 10, 209900;BARDET-BIEDL SYNDROME TYPE 10 (BBS10)						False	3	100;0;0	9.382	False		ENSG00000179941	ENSG00000179941	HGNC:26291													
BBS12	gene	BBS12	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 12, 209900;BARDET-BIEDL SYNDROME TYPE 12 (BBS12)						False	3	100;0;0	9.382	False		ENSG00000181004	ENSG00000181004	HGNC:26648													
BBS2	gene	BBS2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 2, 209900;BARDET-BIEDL SYNDROME TYPE 2 (BBS2)						False	3	100;0;0	9.382	False		ENSG00000125124	ENSG00000125124	HGNC:967													
BBS4	gene	BBS4	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 4, 209900;BARDET-BIEDL SYNDROME TYPE 4 (BBS4)						False	3	100;0;0	9.382	False		ENSG00000140463	ENSG00000140463	HGNC:969													
BBS5	gene	BBS5	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 5, 209900;BARDET-BIEDL SYNDROME TYPE 5 (BBS5)						False	3	100;0;0	9.382	False		ENSG00000163093	ENSG00000163093	HGNC:970													
BBS7	gene	BBS7	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 7, 209900;BARDET-BIEDL SYNDROME TYPE 7 (BBS7)						False	3	100;0;0	9.382	False		ENSG00000138686	ENSG00000138686	HGNC:18758													
BBS9	gene	BBS9	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 9, 209900;BARDET-BIEDL SYNDROME TYPE 9 (BBS9)						False	3	100;0;0	9.382	False		ENSG00000122507	ENSG00000122507	HGNC:30000													
BCAP31	gene	BCAP31	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS				24011989		False	3	33;67;0	9.382	False		ENSG00000185825	ENSG00000185825	HGNC:16695													
BCAS3	gene	BCAS3	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Syndromic neurodevelopmental disorder				34022130		False	3	100;0;0	9.382	False		ENSG00000141376	ENSG00000141376	HGNC:14347													
BCKDHA	gene	BCKDHA	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type Ia, 248600;MAPLE SYRUP URINE DISEASE						False	3	100;0;0	9.382	False		ENSG00000248098	ENSG00000248098	HGNC:986													
BCKDHB	gene	BCKDHB	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type Ib, 248600;MAPLE SYRUP URINE DISEASE						False	3	100;0;0	9.382	False		ENSG00000083123	ENSG00000083123	HGNC:987													
BCKDK	gene	BCKDK	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Branched-chain ketoacid dehydrogenase kinase deficiency, 614923;Intellectual disability				22956686;24449431		False	3	100;0;0	9.382	False		ENSG00000103507	ENSG00000103507	HGNC:16902													
BCL11A	gene	BCL11A	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	INTELLECTUAL DISABILITY				25533962		False	3	100;0;0	9.382	False		ENSG00000119866	ENSG00000119866	HGNC:13221													
BCL11B	gene	BCL11B	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability;Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092				27959755;29985992		False	3	100;0;0	9.382	False		ENSG00000127152	ENSG00000127152	HGNC:13222													
BCOR	gene	BCOR	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Microphthalmia, syndromic 2, 300166;MICROPHTHALMIA SYNDROMIC TYPE 2 (MCOPS2)						False	3	100;0;0	9.382	False		ENSG00000183337	ENSG00000183337	HGNC:20893													
BCS1L	gene	BCS1L	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000;Bjornstad syndrome, 262000				24896178;26503795; 17403714; 9777342		False	3	50;0;50	9.382	False		ENSG00000074582	ENSG00000074582	HGNC:1020													
BICRA	gene	BICRA	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features				33232675		False	3	100;0;0	9.382	False		ENSG00000063169	ENSG00000063169	HGNC:4332													
BLM	gene	BLM	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bloom syndrome, OMIM:210900				22514588;23552953;36646944		False	3	75;0;25	9.382	False		ENSG00000197299	ENSG00000197299	HGNC:1058													
BLOC1S1	gene	BLOC1S1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	severe intellectual disability;severe global developmental delay;epilepsy				33875846		False	3	100;0;0	9.382	False		ENSG00000135441	ENSG00000135441	HGNC:4200													
BMP4	gene	BMP4	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microphthalmia, syndromic 6  607932;Global developmental delay						False	3	100;0;0	9.382	False		ENSG00000125378	ENSG00000125378	HGNC:1071													
BOLA3	gene	BOLA3	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2				11156534		False	3	0;100;0	9.382	False		ENSG00000163170	ENSG00000163170	HGNC:24415													
BORCS8	gene	BORCS8	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987				38128568		False	3	100;0;0	9.382	False		ENSG00000254901	ENSG00000254901	HGNC:37247													
BPTF	gene	BPTF	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755;intellectual disability				28942966		False	3	100;0;0	9.382	False		ENSG00000171634	ENSG00000171634	HGNC:3581													
BRAF	gene	BRAF	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707;NOONAN SYNDROME TYPE 7 (NS7)						False	3	100;0;0	9.382	False		ENSG00000157764	ENSG00000157764	HGNC:1097													
BRAT1	gene	BRAT1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME				22279524		False	3	50;50;0	9.382	False		ENSG00000106009	ENSG00000106009	HGNC:21701													
BRD4	gene	BRD4	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cornelia de Lange syndrome 6, OMIM:620568				29379197;30055032;30302754		False	3	100;0;0	9.382	False		ENSG00000141867	ENSG00000141867	HGNC:13575													
BRF1	gene	BRF1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellofaciodental syndrome, 616202;intellectual disability				25561519		False	3	100;0;0	9.382	False		ENSG00000185024	ENSG00000185024	HGNC:11551													
BRPF1	gene	BRPF1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with dysmorphic facies and ptosis 617333				27939640		False	3	100;0;0	9.382	False		ENSG00000156983	ENSG00000156983	HGNC:14255													
BRSK2	gene	BRSK2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Autism;Behavioral abnormality;Global developmental delay, Intellectual disability, Autism, Behavioral abnormality;Intellectual disability				15705853;23715323;30879638;25363768;28135719		False	3	100;0;0	9.382	False		ENSG00000174672	ENSG00000174672	HGNC:11405													
BRWD3	gene	BRWD3	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental Retardation, X-linked;Mental retardation, X-linked 93, 300659;MENTAL RETARDATION X-LINKED TYPE 93 (MRX93)						False	3	100;0;0	9.382	False		ENSG00000165288	ENSG00000165288	HGNC:17342													
BSCL2	gene	BSCL2	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924;Lipodystrophy, congenital generalized, type 2, OMIM:269700				24896178;26503795;23564749; 15181077		False	3	50;0;50	9.382	False		ENSG00000168000	ENSG00000168000	HGNC:15832													
BTD	gene	BTD	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Biotinidase deficiency, 253260;BIOTINIDASE DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000169814	ENSG00000169814	HGNC:1122													
BUB1	gene	BUB1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 30, primary, autosomal recessive, OMIM:620183				35044816		False	3	67;33;0	9.382	False		ENSG00000169679	ENSG00000169679	HGNC:1148													
BUB1B	gene	BUB1B	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430;MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1						False	3	100;0;0	9.382	False		ENSG00000156970	ENSG00000156970	HGNC:1149													
C12orf4	gene	C12orf4	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 66, OMIM:618221				27311568;25558065		False	3	100;0;0	9.382	False		ENSG00000047621	ENSG00000047621	HGNC:1184													
C12orf57	gene	C12orf57	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Temtamy syndrome, 218340;TEMTAMY SYNDROME; COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY						False	3	100;0;0	9.382	False		ENSG00000111678	ENSG00000111678	HGNC:29521													
C12orf65	gene	C12orf65	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035				20598281		False	3	33;67;0	9.382	False		ENSG00000130921	ENSG00000130921	HGNC:26784													
C12orf66	gene	C12orf66	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 83, OMIM:621100				39824192		False	3	100;0;0	9.382	False		ENSG00000174206	ENSG00000174206	HGNC:26517													
C2CD3	gene	C2CD3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome XIV, 615948;Joubert-related disorder				24997988;26092869;26477546;27094867;30097616		False	3	25;75;0	9.382	False		ENSG00000168014	ENSG00000168014	HGNC:24564													
C2orf69	gene	C2orf69	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 53, OMIM:619423				34038740;33945503		False	3	100;0;0	9.382	False		ENSG00000178074	ENSG00000178074	HGNC:26799													
C5orf42	gene	C5orf42	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	JOUBERT SYNDROME						False	3	100;0;0	9.382	False		ENSG00000197603	ENSG00000197603	HGNC:25801													
CA2	gene	CA2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730;OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 (OPTB3);carbonic anhydrase II deficiency;intellectual disability				25529582;24896178;12566520;1301935;8127074;5041390;16265785;28509178;15300855;8834238;1928091		False	3	80;0;20	9.382	False		ENSG00000104267	ENSG00000104267	HGNC:1373													
CA8	gene	CA8	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227;CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 (CMARQ3)						False	3	100;0;0	9.382	False		ENSG00000178538	ENSG00000178538	HGNC:1382													
CACNA1A	gene	CACNA1A	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Developemental and epileptic encephalopathy 42, OMIM:617106;developmental and epileptic encephalopathy, 42, MONDO:0014917				24896178;27476654;36063114;34267336;33445191;27250579		False	3	50;0;50	9.382	False		ENSG00000141837	ENSG00000141837	HGNC:1388													
CACNA1B	gene	CACNA1B	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497;Progressive Epilepsy-Dyskinesia;Seizures;Abnormality of movement;Intellectual disability;Developmental regression;Global developmental delay				26157024;30982612		False	3	100;0;0	9.382	False		ENSG00000148408	ENSG00000148408	HGNC:1389													
CACNA1C	gene	CACNA1C	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;CACNA1C-related disorder				24896178;15454078;28371864		False	3	50;0;50	9.382	False		ENSG00000151067	ENSG00000151067	HGNC:1390													
CACNA1D	gene	CACNA1D	Expert Review Green	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474;aldosterone-producing adenoma with seizures and neurological abnormalities, MONDO:0014200				21131953;30498240;30054272;32747562;23913001;2847230;37122292		False	3	50;50;0	9.382	False		ENSG00000157388	ENSG00000157388	HGNC:1391													
CACNA1E	gene	CACNA1E	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Seizures;Dystonia;Congenital contracture;Macrocephaly;Epileptic encephalopathy, early infantile, 69, 618285				29942082;30343943		False	3	100;0;0	9.382	False	Other	ENSG00000198216	ENSG00000198216	HGNC:1392													
CACNA1G	gene	CACNA1G	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 42 616795;Cerebellar atrophy, epilepsy, intellectual disability				24896178;26350204;21937992;29878067		False	3	25;0;75	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000006283	ENSG00000006283	HGNC:1394													
CACNA1I	gene	CACNA1I	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114				33704440		False	3	100;0;0	9.382	False	Other	ENSG00000100346	ENSG00000100346	HGNC:1396													
CACNA2D1	gene	CACNA2D1	Expert Review Green;Literature;NHS GMS;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Abnormal muscle tone;Feeding difficulties;Global developmental delay;Intellectual disability;Seizures;Microcephaly;Abnormality of the corpus callosum;Cerebral atrophy;Abnormality of movement;Cortical visual impairment;Pain insensitivity				35293990;28097321;34356170		False	3	100;0;0	9.382	False		ENSG00000153956	ENSG00000153956	HGNC:1399													
CAD	gene	CAD	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 50, OMIM:616457				25678555;28007989;30914295		False	3	0;100;0	9.382	False		ENSG00000084774	ENSG00000084774	HGNC:1424													
CAMK2A	gene	CAMK2A	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 53, OMIM:617798;?Mental retardation, autosomal recessive 63, OMIM:618095				26350204;29100089;29784083		False	3	33;0;67	9.382	False		ENSG00000070808	ENSG00000070808	HGNC:1460													
CAMK2B	gene	CAMK2B	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 54, OMIM:617799				29100089;29560374;30842224;32875707		False	3	100;0;0	9.382	False		ENSG00000058404	ENSG00000058404	HGNC:1461													
CAMK2D	gene	CAMK2D	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				38272033		False	3	100;0;0	9.382	False		ENSG00000145349	ENSG00000145349	HGNC:1462													
CAMK4	gene	CAMK4	Expert Review Green;Literature;Other	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Autism;Behavioral abnormality;Abnormality of movement;Dystonia;Ataxia;Chorea;Myoclonus				30262571;33098801;33211350		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000152495	ENSG00000152495	HGNC:1464													
CAMSAP1	gene	CAMSAP1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316				36283405		False	3	100;0;0	9.382	False		ENSG00000130559	ENSG00000130559	HGNC:19946													
CAMTA1	gene	CAMTA1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION				22693284		False	3	100;0;0	9.382	False		ENSG00000171735	ENSG00000171735	HGNC:18806													
CAPN15	gene	CAPN15	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318				33410501;32885237		False	3	100;0;0	9.382	False		ENSG00000103326	ENSG00000103326	HGNC:11182													
CAPRIN1	gene	CAPRIN1	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636				23849776;35979925;36136249;35977029;28135719;31398340		False	3	50;0;50	9.382	False		ENSG00000135387	ENSG00000135387	HGNC:6743													
CARS	gene	CARS	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891				30824121		False	3	100;0;0	9.382	False		ENSG00000110619	ENSG00000110619	HGNC:1493													
CASK	gene	CASK	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422;MENTAL RETARDATION X-LINKED CASK-RELATED (MRXCASK)				21954287;20595373;32700313;33090494;33272775;35149592		False	3	100;0;0	9.382	False		ENSG00000147044	ENSG00000147044	HGNC:1497													
CASP2	gene	CASP2	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653				21937992;24896178;26350204;37880421		False	3	60;0;40	9.382	False		ENSG00000106144	ENSG00000106144	HGNC:1503													
CBL	gene	CBL	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563;NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA						False	3	100;0;0	9.382	False		ENSG00000110395	ENSG00000110395	HGNC:1541													
CBS	gene	CBS	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, B6-responsive and nonresponsive types, 236200;Thrombosis, hyperhomocysteinemic, 236200;CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD)						False	3	100;0;0	9.382	False		ENSG00000160200	ENSG00000160200	HGNC:1550													
CC2D1A	gene	CC2D1A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 3, OMIM:608443				16033914;30500859		False	3	100;0;0	9.382	False		ENSG00000132024	ENSG00000132024	HGNC:30237													
CC2D2A	gene	CC2D2A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360;MECKEL SYNDROME, TYPE 6; MKS6						False	3	100;0;0	9.382	False		ENSG00000048342	ENSG00000048342	HGNC:29253													
CCBE1	gene	CCBE1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510						False	3	100;0;0	9.382	False		ENSG00000183287	ENSG00000183287	HGNC:29426													
CCDC22	gene	CCDC22	Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	SYNDROMIC X-LINKED INTELLECTUAL DISABILITY						False	3	100;0;0	9.382	False		ENSG00000101997	ENSG00000101997	HGNC:28909													
CCDC32	gene	CCDC32	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiofacioneurodevelopmental syndrome, OMIM:619123;cardiofacioneurodevelopmental syndrome, MONDO:0030873				32307552;35451546		False	3	50;50;0	9.382	False		ENSG00000128891	ENSG00000128891	HGNC:28295													
CCDC47	gene	CCDC47	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichohepatoneurodevelopmental syndrome, OMIM:618268				30401460		False	3	100;0;0	9.382	False		ENSG00000108588	ENSG00000108588	HGNC:24856													
CCDC82	gene	CCDC82	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				27457812;28397838;35118659;35373332		False	3	67;33;0	9.382	False		ENSG00000149231	ENSG00000149231	HGNC:26282													
CCDC88A	gene	CCDC88A	Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PEHO syndrome-like, OMIM:617507				26917597;30392057;37798908;39334473;39273517		False	3	33;67;0	9.382	False		ENSG00000115355	ENSG00000115355	HGNC:25523													
CCDC88C	gene	CCDC88C	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Spinocerebellar ataxia 40 616053 AD; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR				23042809;  21031079 		False	3	100;0;0	9.382	False		ENSG00000015133	ENSG00000015133	HGNC:19967													
CCND2	gene	CCND2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME				0		False	3	33;67;0	9.382	False		ENSG00000118971	ENSG00000118971	HGNC:1583													
CCT6A	gene	CCT6A	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder, MONDO:0700092				39480921		False	3	100;0;0	9.382	False		ENSG00000146731	ENSG00000146731	HGNC:1620													
CDC42	gene	CDC42	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Takenouchi-Kosaki syndrome, 616737;Intellectual disability				26386261;26708094;29394990		False	3	0;0;0	9.382	False		ENSG00000070831	ENSG00000070831	HGNC:1736													
CDC6	gene	CDC6	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 5, OMIM:613805				11477602		False	3	33;67;0	9.382	False		ENSG00000094804	ENSG00000094804	HGNC:1744													
CDH11	gene	CDH11	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Elsahy-Waters syndrome, OMIM:211380;Teebi hypertelorism syndrome				27431290;28988429;29271567;33811546		False	3	100;0;0	9.382	False		ENSG00000140937	ENSG00000140937	HGNC:1750													
CDH2	gene	CDH2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929;Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065				31585109;9015265;17222817;31650526		False	3	60;40;0	9.382	False		ENSG00000170558	ENSG00000170558	HGNC:1759													
CDK10	gene	CDK10	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Al Kaissi syndrome, 617694;intellectual disability				28886341		False	3	100;0;0	9.382	False		ENSG00000185324	ENSG00000185324	HGNC:1770													
CDK13	gene	CDK13	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360				27479907		False	3	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000065883	ENSG00000065883	HGNC:1733													
CDK16	gene	CDK16	Emory Genetics Laboratory;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual disability, MONDO:0001071				26350204;25644381;31981491;36323681		False	3	33;0;67	9.382	False		ENSG00000102225	ENSG00000102225	HGNC:8749													
CDK19	gene	CDK19	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, early infantile, 87 618916				20563892;32330417		False	3	100;0;0	9.382	False		ENSG00000155111	ENSG00000155111	HGNC:19338													
CDK5RAP2	gene	CDK5RAP2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 3, primary, autosomal recessive, 604804;PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY						False	3	100;0;0	9.382	False		ENSG00000136861	ENSG00000136861	HGNC:18672													
CDK8	gene	CDK8	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748				26350204;24139904;30905399		False	3	25;0;75	9.382	False		ENSG00000132964	ENSG00000132964	HGNC:1779													
CDK9	gene	CDK9	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Global developmental delay HP:0001263;syndromic intellectual disability MONDO:0000508				26633546;30237576;29302074;33640901		False	3	100;0;0	9.382	False		ENSG00000136807	ENSG00000136807	HGNC:1780													
CDKL5	gene	CDKL5	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Epileptic encephalopathy, early infantile, 2, 300672Angelman syndrome-like, 105830;EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 (EIEE2)						False	3	100;0;0	9.382	False		ENSG00000008086	ENSG00000008086	HGNC:11411													
CDON	gene	CDON	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 11, 614226;HOLOPROSENCEPHALY 11						False	3	100;0;0	9.382	False		ENSG00000064309	ENSG00000064309	HGNC:17104													
CELF2	gene	CELF2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 97, OMIM:619561				34107259;33131106		False	3	100;0;0	9.382	False	Other	ENSG00000048740	ENSG00000048740	HGNC:2550													
CENPF	gene	CENPF	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome						False	3	0;0;0	9.382	False		ENSG00000117724	ENSG00000117724	HGNC:1857													
CENPJ	gene	CENPJ	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676;MICROCEPHALY PRIMARY TYPE 6 (MCPH6)						False	3	100;0;0	9.382	False		ENSG00000151849	ENSG00000151849	HGNC:17272													
CEP104	gene	CEP104	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 25, 616781				26477546;31625690		False	3	100;0;0	9.382	False		ENSG00000116198	ENSG00000116198	HGNC:24866													
CEP120	gene	CEP120	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 31 (617761);Short-rib thoracic dysplasia 13 with or without polydactyly (616300)				27208211		False	3	100;0;0	9.382	False		ENSG00000168944	ENSG00000168944	HGNC:26690													
CEP135	gene	CEP135	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 8, primary, autosomal recessive, 614673;PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION						False	3	100;0;0	9.382	False		ENSG00000174799	ENSG00000174799	HGNC:29086													
CEP152	gene	CEP152	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823;MICROCEPHALY PRIMARY TYPE 4 (MCPH4)						False	3	100;0;0	9.382	False		ENSG00000103995	ENSG00000103995	HGNC:29298													
CEP290	gene	CEP290	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 5, 610188Senior-Loken syndrome 6, 610189Leber congenital amaurosis 10, 611755Meckel syndrome 4, 611134Bardet-Biedl syndrome 14, 209900;BARDET-BIEDL SYNDROME TYPE 14 (BBS14)						False	3	100;0;0	9.382	False		ENSG00000198707	ENSG00000198707	HGNC:29021													
CEP41	gene	CEP41	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 15, 614464;JOUBERT SYNDROME 15						False	3	100;0;0	9.382	False		ENSG00000106477	ENSG00000106477	HGNC:12370													
CEP55	gene	CEP55	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	microcephaly, delayed development, and bilateral toe syndactyly				32100459		False	3	0;0;0	9.382	False		ENSG00000138180	ENSG00000138180	HGNC:1161													
CEP57	gene	CEP57	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2				21552266;12116237		False	3	33;67;0	9.382	False		ENSG00000166037	ENSG00000166037	HGNC:30794													
CEP83	gene	CEP83	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY				24882706		False	3	100;0;0	9.382	False		ENSG00000173588	ENSG00000173588	HGNC:17966													
CEP85L	gene	CEP85L	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lissencephaly 10, OMIM:618873;Lissencephaly 10, MONDO:0030031				32097629;32097630		False	3	100;0;0	9.382	False		ENSG00000111860	ENSG00000111860	HGNC:21638													
CHAMP1	gene	CHAMP1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579				35271727		False	3	100;0;0	9.382	False		ENSG00000198824	ENSG00000198824	HGNC:20311													
CHD2	gene	CHD2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, childhood-onset, 615369;EPILEPTIC ENCEPHALOPATHY						False	3	100;0;0	9.382	False		ENSG00000173575	ENSG00000173575	HGNC:1917													
CHD3	gene	CHD3	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Macrocephaly;Snijders Blok-Campeau syndrome, 618205				30397230;29463886		False	3	100;0;0	9.382	False		ENSG00000170004	ENSG00000170004	HGNC:1918													
CHD4	gene	CHD4	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sifrim-Hitz-Weiss syndrome OMIM:617159;Sifrim-Hitz-Weiss syndrome MONDO:0014946						False	3	100;0;0	9.382	False		ENSG00000111642	ENSG00000111642	HGNC:1919													
CHD5	gene	CHD5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Parenti-Mignot neurodevelopmental syndrome, OMIM:610771;Intellectual disability, MONDO:0001071;Epilepsy, MONDO:0005027				33944996		False	3	100;0;0	9.382	False		ENSG00000116254	ENSG00000116254	HGNC:16816													
CHD7	gene	CHD7	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome, 214800{Scoliosis, idiopathic 3}, 608765Hypogonadotropic hypogonadism 5 with or without anosmia, 612370;KALLMANN SYNDROME TYPE 5 (KAL5)						False	3	100;0;0	9.382	False		ENSG00000171316	ENSG00000171316	HGNC:20626													
CHD8	gene	CHD8	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Overgrowth with Intellectual disability				23160955		False	3	100;0;0	9.382	False		ENSG00000100888	ENSG00000100888	HGNC:20153													
CHKA	gene	CHKA	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Abnormal muscle tone;Global developmental delay;Intellectual disability;Seizures;Microcephaly;Abnormality of movement;Abnormality of nervous system morphology;Short stature				35202461		False	3	100;0;0	9.382	False		ENSG00000110721	ENSG00000110721	HGNC:1937													
CHKB	gene	CHKB	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital, megaconial type, 602541				21665002;26067811;30986505		False	3	0;0;0	9.382	False		ENSG00000100288	ENSG00000100288	HGNC:1938													
CHMP1A	gene	CHMP1A	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	 Pontocerebellar hypoplasia, type 8 614961				23023333		False	3	33;67;0	9.382	False		ENSG00000131165	ENSG00000131165	HGNC:8740													
CIAO1	gene	CIAO1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960				38950322		False	3	100;0;0	9.382	False		ENSG00000144021	ENSG00000144021	HGNC:14280													
CIC	gene	CIC	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 45 617600				21076407; 28288114; 24896178		False	3	33;0;67	9.382	False		ENSG00000079432	ENSG00000079432	HGNC:14214													
CIT	gene	CIT	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 17, primary, autosomal recessive, 617090						False	3	100;0;0	9.382	False		ENSG00000122966	ENSG00000122966	HGNC:1985													
CKAP2L	gene	CKAP2L	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION				0		False	3	100;0;0	9.382	False		ENSG00000169607	ENSG00000169607	HGNC:26877													
CLCN3	gene	CLCN3	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512;Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517				34186028		False	3	100;0;0	9.382	False	Other	ENSG00000109572	ENSG00000109572	HGNC:2021													
CLCN4	gene	CLCN4	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Raynaud-Claes syndrome, OMIM:300114				25644381		False	3	0;0;100	9.382	False		ENSG00000073464	ENSG00000073464	HGNC:2022													
CLCN6	gene	CLCN6	Expert Review Green;NHS GMS;Other	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173				29667327;26658788;25794116;21107136;33217309;16950870		False	3	100;0;0	9.382	False		ENSG00000011021	ENSG00000011021	HGNC:2024													
CLDN11	gene	CLDN11	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Leukodystrophy, hypomyelinating, 22, OMIM:619328				33313762		False	3	100;0;0	9.382	False		ENSG00000013297	ENSG00000013297	HGNC:8514													
CLDN5	gene	CLDN5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability, MONDO:0001071				36477332		False	3	100;0;0	9.382	False		ENSG00000184113	ENSG00000184113	HGNC:2047													
CLEC16A	gene	CLEC16A	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	severe neurodevelopmental disorder including microcephaly, brain atrophy, corpus callosum dysgenesis, and growth retardation				36538041;37175930		False	3	100;0;0	9.382	False		ENSG00000038532	ENSG00000038532	HGNC:29013													
CLN3	gene	CLN3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 3, 204200;NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3)						False	3	100;0;0	9.382	False		ENSG00000188603	ENSG00000188603	HGNC:2074													
CLN5	gene	CLN5	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745						False	3	100;0;0	9.382	False		ENSG00000102805	ENSG00000102805	HGNC:2076													
CLN6	gene	CLN6	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300;CEROID LIPOFUSCINOSIS, NEURONAL, 6						False	3	100;0;0	9.382	False		ENSG00000128973	ENSG00000128973	HGNC:2077													
CLN8	gene	CLN8	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003;NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8)						False	3	100;0;0	9.382	False		ENSG00000182372	ENSG00000182372	HGNC:2079													
CLP1	gene	CLP1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia 10 OMIM:615803;Pontocerebellar hypoplasia type 10 MONDO:0014349				24766809		False	3	0;100;0	9.382	False		ENSG00000172409	ENSG00000172409	HGNC:16999													
CLPB	gene	CLPB	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813				25597510;25597511;25650066;25595726;26916670;28687938;34140661		False	3	33;67;0	9.382	False		ENSG00000162129	ENSG00000162129	HGNC:30664													
CLTC	gene	CLTC	Expert Review Green;Other	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 56, OMIM:617854				26822784;29100083		False	3	0;0;0	9.382	False		ENSG00000141367	ENSG00000141367	HGNC:2092													
CNKSR2	gene	CNKSR2	Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008;intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909				28098945;25223753;22511892;25644381;28098945;34266427		False	3	100;0;0	9.382	False		ENSG00000149970	ENSG00000149970	HGNC:19701													
CNNM2	gene	CNNM2	Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypomagnesemia, seizures, and mental retardation, OMIM:616418;Hypomagnesemia, seizures, and mental retardation, MONDO:0014631				21397062; 24699222; 27604308		False	3	100;0;0	9.382	False		ENSG00000148842	ENSG00000148842	HGNC:103													
CNOT1	gene	CNOT1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 12, with or without pancreatic agenesis, 618500;global developmental delay				31006510;21679367;31006513		False	3	0;0;0	9.382	False		ENSG00000125107	ENSG00000125107	HGNC:7877													
CNOT2	gene	CNOT2	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608				31512373;31145527;28135719;28159701;30768759;21505450;18076123;22247066		False	3	100;0;0	9.382	False		ENSG00000111596	ENSG00000111596	HGNC:7878													
CNOT3	gene	CNOT3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CNOT3 syndrome;intellectual disability, global developmental delay;Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672				25529582;28135719;28135719;31201375;24121232		False	3	100;0;0	9.382	False		ENSG00000088038	ENSG00000088038	HGNC:7879													
CNOT9	gene	CNOT9	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability, MONDO:0001071				37092538		False	3	100;0;0	9.382	False		ENSG00000144580	ENSG00000144580	HGNC:10445													
CNTNAP1	gene	CNTNAP1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypomyelinating neuropathy, congenital, 3 618186;Lethal congenital contracture syndrome 7 616286				28374019;29511323;27668699		False	3	100;0;0	9.382	False		ENSG00000108797	ENSG00000108797	HGNC:8011													
CNTNAP2	gene	CNTNAP2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042;CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME (CDFES)						False	3	100;0;0	9.382	False		ENSG00000174469	ENSG00000174469	HGNC:13830													
COASY	gene	COASY	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with brain iron accumulation 6, OMIM:615643;neurodegeneration with brain iron accumulation 6, MONDO:0014290;Pontocerebellar hypoplasia, type 12, OMIM:618266;pontocerebellar hypoplasia, type 12, MONDO:0032643				11980892;25778941;24360804;27021474;28489334;30089828;36495139		False	3	33;67;0	9.382	False		ENSG00000068120	ENSG00000068120	HGNC:29932													
COG1	gene	COG1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIg, 611209;COG1-CDG (CDG-IIG)						False	3	100;0;0	9.382	False		ENSG00000166685	ENSG00000166685	HGNC:6545													
COG4	gene	COG4	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIj, 613489;COG4-CDG (CDG-IIJ)				19494034;21185756		False	3	60;40;0	9.382	False		ENSG00000103051	ENSG00000103051	HGNC:18620													
COG5	gene	COG5	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type III, 613612;COG5-CDG;CDG-III				19690088;23430875;23228021;28960046		False	3	0;100;0	9.382	False		ENSG00000164597	ENSG00000164597	HGNC:14857													
COG6	gene	COG6	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIl, 614576;Shaheen syndrome, 615328				26260076;20605848;23430903;23606727;28139241;28742265;29445937;29709711		False	3	100;0;0	9.382	False		ENSG00000133103	ENSG00000133103	HGNC:18621													
COG7	gene	COG7	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIe, 608779;COG7-CDG (CDG-IIE)						False	3	100;0;0	9.382	False		ENSG00000168434	ENSG00000168434	HGNC:18622													
COG8	gene	COG8	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIh, 611182;COG8-CDG (CDG-IIH)						False	3	100;0;0	9.382	False		ENSG00000213380	ENSG00000213380	HGNC:18623													
COL4A1	gene	COL4A1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Porencephaly 1, 175780Brain small vessel disease with hemorrhage, 607595Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773Brain small vessel disease with Axenfeld-Rieger anomaly, 607595{Hemorrhage, intracerebral, susceptibility to}, 614519;PORENCEPHALY 1						False	3	100;0;0	9.382	False		ENSG00000187498	ENSG00000187498	HGNC:2202													
COL4A2	gene	COL4A2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519;PORENCEPHALY 2						False	3	100;0;0	9.382	False		ENSG00000134871	ENSG00000134871	HGNC:2203													
COL4A3BP	gene	COL4A3BP	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 34, OMIM:616351				25533962;33347465;34688657;36976648;37892645		False	3	100;0;0	9.382	False		ENSG00000113163	ENSG00000113163	HGNC:2205													
COLEC11	gene	COLEC11	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3MC syndrome 2, 265050;3MC SYNDROME 2						False	3	100;0;0	9.382	False		ENSG00000118004	ENSG00000118004	HGNC:17213													
COPB2	gene	COPB2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	osteoporosis;developmental delay				34450031		False	3	100;0;0	9.382	False		ENSG00000184432	ENSG00000184432	HGNC:2232													
COQ4	gene	COQ4	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	COENZYME Q10 DEFICIENCY, PRIMARY, 7				25658047		False	3	0;100;0	9.382	False		ENSG00000167113	ENSG00000167113	HGNC:19693													
COQ8A	gene	COQ8A	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 4, 612016;COENZYME Q10 DEFICIENCY				25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000163050	ENSG00000163050	HGNC:16812													
COX10	gene	COX10	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046				11317352;17275378;10746566;15214016;17604671;19107570;22499348;9843204;10647889;15455402;15863660;10944442;20818383;9837813;12928484		False	3	100;0;0	9.382	False		ENSG00000006695	ENSG00000006695	HGNC:2260													
COX11	gene	COX11	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520				36030551;38068960		False	3	50;0;50	9.382	False		ENSG00000166260	ENSG00000166260	HGNC:2261													
COX15	gene	COX15	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119						False	3	100;0;0	9.382	False		ENSG00000014919	ENSG00000014919	HGNC:2263													
CPE	gene	CPE	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326				26120850;32936766;34383079		False	3	67;33;0	9.382	False		ENSG00000109472	ENSG00000109472	HGNC:2303													
CPLX1	gene	CPLX1	Expert list;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 63, OMIM:617976;developmental and epileptic encephalopathy, 63, MONDO:0033372				26539891;28422131		False	3	100;0;0	9.382	False		ENSG00000168993	ENSG00000168993	HGNC:2309													
CPS1	gene	CPS1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Carbamoylphosphate synthetase I deficiency, 237300{Pulmonary hypertension, neonatal, susceptibility to}, 615371{Venoocclusive disease after bone marrow transplantation};CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY (CPS1D)						False	3	100;0;0	9.382	False		ENSG00000021826	ENSG00000021826	HGNC:2323													
CRADD	gene	CRADD	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499				22279524;27773430;30914828		False	3	33;0;67	9.382	False		ENSG00000169372	ENSG00000169372	HGNC:2340													
CRB2	gene	CRB2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE				25557780		False	3	33;67;0	9.382	False		ENSG00000148204	ENSG00000148204	HGNC:18688													
CREBBP	gene	CREBBP	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rubinstein-Taybi syndrome, 180849;RUBINSTEIN-TAYBI SYNDROME TYPE 1 (RSTS1)						False	3	100;0;0	9.382	False		ENSG00000005339	ENSG00000005339	HGNC:2348													
CRELD1	gene	CRELD1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771				37947183;39313616		False	3	100;0;0	9.382	False		ENSG00000163703	ENSG00000163703	HGNC:14630													
CRNKL1	gene	CRNKL1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436;complex neurodevelopmental disorder, MONDO:0100038				40857589		False	3	100;0;0	9.382	False		ENSG00000101343	ENSG00000101343	HGNC:15762													
CSDE1	gene	CSDE1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autism;Global developmental delay;Intellectual disability				31579823		False	3	100;0;0	9.382	False		ENSG00000009307	ENSG00000009307	HGNC:29905													
CSNK1G1	gene	CSNK1G1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	severe non-syndromic early-onset epilepsy;Global developmental delay;Intellectual disability;Autism;Seizures;Abnormality of the face;Abnormality of limbs				24463883;33009664		False	3	0;25;75	9.382	False		ENSG00000169118	ENSG00000169118	HGNC:2454													
CSNK2A1	gene	CSNK2A1	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Okur-Chung neurodevelopmental syndrome, OMIM:617062				PubMed: 27048600		False	3	100;0;0	9.382	False		ENSG00000101266	ENSG00000101266	HGNC:2457													
CSNK2B	gene	CSNK2B	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732;Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889				28762608;28585349;27094248;30655572		False	3	100;0;0	9.382	False		ENSG00000204435	ENSG00000204435	HGNC:2460													
CSPP1	gene	CSPP1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY				24360808		False	3	33;67;0	9.382	False		ENSG00000104218	ENSG00000104218	HGNC:26193													
CSTB	gene	CSTB	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800				9012407;15329070;9342192;8596935		False	3	33;67;0	9.382	False	Other - please provide details in the comments	ENSG00000160213	ENSG00000160213	HGNC:2482													
CTBP1	gene	CTBP1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915				27094857;28955726;31041561		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000159692	ENSG00000159692	HGNC:2494													
CTCF	gene	CTCF	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	INTELLECTUAL DISABILITY				23746550		False	3	100;0;0	9.382	False		ENSG00000102974	ENSG00000102974	HGNC:13723													
CTDP1	gene	CTDP1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital cataracts, facial dysmorphism, and neuropathy, 604168;CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN)						False	3	100;0;0	9.382	False		ENSG00000060069	ENSG00000060069	HGNC:2498													
CTNNA2	gene	CTNNA2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174				30013181		False	3	0;100;0	9.382	False		ENSG00000066032	ENSG00000066032	HGNC:2510													
CTNNB1	gene	CTNNB1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075				23033978;24614104;25326669;26968164;27915094;34321325		False	3	100;0;0	9.382	False		ENSG00000168036	ENSG00000168036	HGNC:2514													
CTNND1	gene	CTNND1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	developmental delay				32196547		False	3	100;0;0	9.382	False		ENSG00000198561	ENSG00000198561	HGNC:2515													
CTR9	gene	CTR9	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrocephaly, HP:0000256;Motor delay, HP:0001270;intellectual disability, MONDO:0001071;Delayed speech and language development;Behavioral abnormality;Autistic behavior;Failure to thrive;Feeding difficulties;Abnormality of the cardiovascular system				35499524;35717577		False	3	67;33;0	9.382	False		ENSG00000198730	ENSG00000198730	HGNC:16850													
CTSA	gene	CTSA	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Galactosialidosis, 256540;GALACTOSIALIDOSIS (GSL)						False	3	50;50;0	9.382	False		ENSG00000064601	ENSG00000064601	HGNC:9251													
CTSD	gene	CTSD	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 10, 610127;NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 (CLN10)						False	3	100;0;0	9.382	False		ENSG00000117984	ENSG00000117984	HGNC:2529													
CTU2	gene	CTU2	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	DREAM PL syndrome;Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142				27480277;26633546		False	3	100;0;0	9.382	False		ENSG00000174177	ENSG00000174177	HGNC:28005													
CUL3	gene	CUL3	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with or without autism or seizures, OMIM:619239				32341456;25969726;31696658;33097317;30311385		False	3	100;0;0	9.382	False		ENSG00000036257	ENSG00000036257	HGNC:2553													
CUL4B	gene	CUL4B	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354;MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE (MRXC)						False	3	100;0;0	9.382	False		ENSG00000158290	ENSG00000158290	HGNC:2555													
CUX1	gene	CUX1	Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay with or without impaired intellectual development, 618330				25059644;20510857;30014507		False	3	100;0;0	9.382	False		ENSG00000257923	ENSG00000257923	HGNC:2557													
CUX2	gene	CUX2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 67, OMIM:618141;Seizures;Intellectual disability;Autistic behaviour				21331220;26350204;29630738;29795476;23020937;23934111		False	3	40;0;60	9.382	False		ENSG00000111249	ENSG00000111249	HGNC:19347													
CWC27	gene	CWC27	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa with or without skeletal anomalies, 250410				28285769		False	3	100;0;0	9.382	False		ENSG00000153015	ENSG00000153015	HGNC:10664													
CWF19L1	gene	CWF19L1	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 17, 616127;intellectual disability, developmental delay				25361784;15981765;26197978;27016154;30167849		False	3	100;0;0	9.382	False		ENSG00000095485	ENSG00000095485	HGNC:25613													
CXorf56	gene	CXorf56	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		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 107, OMIM:301013				29374277;31822863		False	3	50;50;0	9.382	False		ENSG00000018610	ENSG00000018610	HGNC:26239													
CYB5R3	gene	CYB5R3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800;METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE						False	3	100;0;0	9.382	False		ENSG00000100243	ENSG00000100243	HGNC:2873													
CYC1	gene	CYC1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6				23910460		False	3	33;67;0	9.382	False		ENSG00000179091	ENSG00000179091	HGNC:2579													
CYFIP2	gene	CYFIP2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 65, 618008;Epileptic encephalopathy, early infantile 65, 618008				12818175;30664714;20537992;29534297;25432536;27524794;29667327		False	3	100;0;0	9.382	False		ENSG00000055163	ENSG00000055163	HGNC:13760													
D2HGDH	gene	D2HGDH	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	D-2-hydroxyglutaric aciduria,  600721				15609246;16081310		False	3	0;25;75	9.382	False		ENSG00000180902	ENSG00000180902	HGNC:28358													
DAG1	gene	DAG1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Walker-Warburg syndrome;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9  613818;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9  616538				21388311;25529582		False	3	50;50;0	9.382	False		ENSG00000173402	ENSG00000173402	HGNC:2666													
DAGLA	gene	DAGLA	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability, MONDO:0001071				35737950		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000134780	ENSG00000134780	HGNC:1165													
DARS	gene	DARS	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.				23643384;23643384		False	3	33;67;0	9.382	False		ENSG00000115866	ENSG00000115866	HGNC:2678													
DARS2	gene	DARS2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105						False	3	100;0;0	9.382	False		ENSG00000117593	ENSG00000117593	HGNC:25538													
DBT	gene	DBT	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type II, 248600;MAPLE SYRUP URINE DISEASEQ				25529582;24896178;31112740		False	3	100;0;0	9.382	False		ENSG00000137992	ENSG00000137992	HGNC:2698													
DCAF17	gene	DCAF17	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Woodhouse-Sakati syndrome, 241080;WOODHOUSE-SAKATI SYNDROME (WOSAS)						False	3	0;100;0	9.382	False		ENSG00000115827	ENSG00000115827	HGNC:25784													
DCHS1	gene	DCHS1	Expert Review Green;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Van Maldergem syndrome 1, OMIM:601390				24056717		False	3	33;67;0	9.382	False		ENSG00000166341	ENSG00000166341	HGNC:13681													
DCPS	gene	DCPS	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Al-Raqad syndrome, 616459;Al-Raqad syndrome (OMIM 616459)				25701870;30289615;25712129		False	3	100;0;0	9.382	False		ENSG00000110063	ENSG00000110063	HGNC:29812													
DCX	gene	DCX	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Lissencephaly, X-linked, OMIM:300067;Subcortical laminal heterotopia, X-linked, OMIM:300067						False	3	100;0;0	9.382	False		ENSG00000077279	ENSG00000077279	HGNC:2714													
DDB1	gene	DDB1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability				33743206		False	3	100;0;0	9.382	False		ENSG00000167986	ENSG00000167986	HGNC:2717													
DDC	gene	DDC	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084				28100251;30952622;30689738;25597765;24788355		False	3	50;50;0	9.382	False		ENSG00000132437	ENSG00000132437	HGNC:2719													
DDHD2	gene	DDHD2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 54, autosomal recessive, 615033;COMPLEX HEREDITARY SPASTIC PARAPLEGIA						False	3	100;0;0	9.382	False		ENSG00000085788	ENSG00000085788	HGNC:29106													
DDX11	gene	DDX11	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	WARSAW BREAKAGE SYNDROME (WBRS)				20137776;23033317		False	3	33;67;0	9.382	False		ENSG00000013573	ENSG00000013573	HGNC:2736													
DDX17	gene	DDX17	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				39405200		False	3	100;0;0	9.382	False		ENSG00000100201	ENSG00000100201	HGNC:2740													
DDX23	gene	DDX23	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Global developmental delay with speech and behavioral abnormalities, MONDO:0030995				33057194;34050707		False	3	100;0;0	9.382	False		ENSG00000174243	ENSG00000174243	HGNC:17347													
DDX39B	gene	DDX39B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				39918047		False	3	100;0;0	9.382	False		ENSG00000198563	ENSG00000198563	HGNC:13917													
DDX3X	gene	DDX3X	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		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 syndromic, Snijders Blok type, OMIM:300958				26235985		False	3	100;0;0	9.382	False	loss-of-function (truncating variants and curated list of variants)	ENSG00000215301	ENSG00000215301	HGNC:2745													
DDX59	gene	DDX59	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome V, 174300				28711741;29127725;23972372;30914295		False	3	100;0;0	9.382	False		ENSG00000118197	ENSG00000118197	HGNC:25360													
DDX6	gene	DDX6	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Generalized hypotonia;Global developmental delay;Intellectual disability;Unsteady gait;Abnormality of the cardiovascular system;Abnormality of the genitourinary system;Abnormality of limbs				31422817		False	3	100;0;0	9.382	False		ENSG00000110367	ENSG00000110367	HGNC:2747													
DEAF1	gene	DEAF1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	?Dyskinesia, seizures, and intellectual developmental disorder, 617171;Mental retardation, autosomal dominant 24, 615828				21076407;35981081		False	3	100;0;0	9.382	False		ENSG00000177030	ENSG00000177030	HGNC:14677													
DEGS1	gene	DEGS1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy hypomyelinating 18, MIM 618404);developmental delay				30620337;30620338;31186544		False	3	100;0;0	9.382	False		ENSG00000143753	ENSG00000143753	HGNC:13709													
DENND5B	gene	DENND5B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	DENND5B associated neurodevelopmental disorder				38387458		False	3	100;0;0	9.382	False		ENSG00000170456	ENSG00000170456	HGNC:28338													
DEPDC5	gene	DEPDC5	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, familial focal, with variable foci 1, OMIM:604364				14510823;15329069;10825362;10577924;9851433;23542701		False	3	33;67;0	9.382	False		ENSG00000100150	ENSG00000100150	HGNC:18423													
DHCR24	gene	DHCR24	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Desmosterolosis, 602398;DESMOSTEROLOSIS						False	3	100;0;0	9.382	False		ENSG00000116133	ENSG00000116133	HGNC:2859													
DHCR7	gene	DHCR7	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome, 270400;SMITH-LEMLI-OPITZ SYNDROME (SLOS)						False	3	100;0;0	9.382	False		ENSG00000172893	ENSG00000172893	HGNC:2860													
DHDDS	gene	DHDDS	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay and seizures with or without movement abnormalities, OMIM:617836				29100083;32654954;33798445;34182312;34382076;34504728		False	3	100;0;0	9.382	False		ENSG00000117682	ENSG00000117682	HGNC:20603													
DHFR	gene	DHFR	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839;MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000228716	ENSG00000228716	HGNC:2861													
DHPS	gene	DHPS	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Abnormality of head or neck;Seizures;Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, EEG abnormality, Behavioral abnormality, Abnormality of head or neck;EEG abnormality;Behavioral abnormality;Abnormal muscle tone;Intellectual disability;Global developmental delay				21389784;30661771;21850436		False	3	100;0;0	9.382	False		ENSG00000095059	ENSG00000095059	HGNC:2869													
DHRSX	gene	DHRSX	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type 1DD, OMIM:301133				38821050		False	3	50;0;50	9.382	False		ENSG00000169084	ENSG00000169084	HGNC:18399													
DHTKD1	gene	DHTKD1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	2-aminoadipic 2-oxoadipic aciduria, 204750;Charcot-Marie-Tooth disease, axonal, type 2Q, 615025;2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA						False	3	100;0;0	9.382	False		ENSG00000181192	ENSG00000181192	HGNC:23537													
DHX30	gene	DHX30	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	microcephaly, developmental delay intellectual disability, mild cerebral volume loss, hypotonia, seizures, short stature, failure to thrive, and generalized hirsutism				28327206		False	3	33;0;67	9.382	False		ENSG00000132153	ENSG00000132153	HGNC:16716													
DHX37	gene	DHX37	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731				26539891;31256877;35982159		False	3	100;0;0	9.382	False		ENSG00000150990	ENSG00000150990	HGNC:17210													
DHX9	gene	DHX9	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 75, OMIM:620988				37467750		False	3	100;0;0	9.382	False		ENSG00000135829	ENSG00000135829	HGNC:2750													
DIAPH1	gene	DIAPH1	Expert Review Green;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seizures, cortical blindness, microcephaly syndrome, 616632; developmental delay; intellectual disability				24781755; 26463574		False	3	0;0;0	9.382	False		ENSG00000131504	ENSG00000131504	HGNC:2876													
DIS3L2	gene	DIS3L2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	3	100;0;0	9.382	False		ENSG00000144535	ENSG00000144535	HGNC:28648													
DKC1	gene	DKC1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dyskeratosis congenita, X-linked, 305000;DKC1-RELATED DYSKERATOSIS CONGENITA						False	3	33;67;0	9.382	False		ENSG00000130826	ENSG00000130826	HGNC:2890													
DLD	gene	DLD	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dihydrolipoamide dehydrogenase deficiency, OMIM:246900						False	3	100;0;0	9.382	False		ENSG00000091140	ENSG00000091140	HGNC:2898													
DLG3	gene	DLG3	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 90, 300850;MENTAL RETARDATION X-LINKED TYPE 90 (MRX90)						False	3	100;0;0	9.382	False		ENSG00000082458	ENSG00000082458	HGNC:2902													
DLG4	gene	DLG4	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability;Marfanoid habitus;Intellectual developmental disorder 62 #618793				27479843;25123844;19617690;29460436;23020937;28135719		False	3	40;20;40	9.382	False		ENSG00000132535	ENSG00000132535	HGNC:2903													
DLL1	gene	DLL1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709				31353024;31602192		False	3	100;0;0	9.382	False		ENSG00000198719	ENSG00000198719	HGNC:2908													
DMD	gene	DMD	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045;BECKER MUSCULAR DYSTROPHY (BMD)						False	3	100;0;0	9.382	False		ENSG00000198947	ENSG00000198947	HGNC:2928													
DMXL2	gene	DMXL2	Expert Review Green;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sensorineural Hearing Loss;ORPHA90636;Epileptic encephalopathy, early infantile, 81, 618663;?Polyendocrine-polyneuropathy syndrome, 616113				25248098;30237576;31688942		False	3	50;0;50	9.382	False		ENSG00000104093	ENSG00000104093	HGNC:2938													
DNAJC12	gene	DNAJC12	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, mild, non-BH4-deficient, 617384; Hyperphenylalaninemia, Dystonia, and Intellectual Disability				28132689		False	3	100;0;0	9.382	False		ENSG00000108176	ENSG00000108176	HGNC:28908													
DNAJC19	gene	DNAJC19	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type V, 610198				27928778;27426421;16055927		False	3	0;33;67	9.382	False		ENSG00000205981	ENSG00000205981	HGNC:30528													
DNM1	gene	DNM1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 31, OMIM:616346				0		False	3	0;100;0	9.382	False		ENSG00000106976	ENSG00000106976	HGNC:2972													
DNM1L	gene	DNM1L	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388						False	3	100;0;0	9.382	False	Other	ENSG00000087470	ENSG00000087470	HGNC:2973													
DNMT3A	gene	DNMT3A	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tatton-Brown-Rahman syndrome OMIM:615879;Heyn-Sproul-Jackson syndrome OMIM:618724;MONDO:0032882				24614070		False	3	100;0;0	9.382	False	Other	ENSG00000119772	ENSG00000119772	HGNC:2978													
DNMT3B	gene	DNMT3B	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860;IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1						False	3	100;0;0	9.382	False		ENSG00000088305	ENSG00000088305	HGNC:2979													
DOCK3	gene	DOCK3	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292;neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661				29130632;28195318;30976111		False	3	0;100;0	9.382	False		ENSG00000088538	ENSG00000088538	HGNC:2989													
DOCK4	gene	DOCK4	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neuronevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				38526744		False	3	100;0;0	9.382	False		ENSG00000128512	ENSG00000128512	HGNC:19192													
DOCK6	gene	DOCK6	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Adams-Oliver syndrome 2, 614219;intellectual disability, developmental delay				21820096;28884918;27077170;26457590;25824905;25091416;23522784		False	3	67;33;0	9.382	False		ENSG00000130158	ENSG00000130158	HGNC:19189													
DOCK7	gene	DOCK7	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23				24814191		False	3	0;100;0	9.382	False		ENSG00000116641	ENSG00000116641	HGNC:19190													
DOHH	gene	DOHH	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066				35858628		False	3	100;0;0	9.382	False		ENSG00000129932	ENSG00000129932	HGNC:28662													
DOLK	gene	DOLK	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	CONGENITAL DISORDERS OF GLYCOSYLATION				17273964;22242004		False	3	33;67;0	9.382	False		ENSG00000175283	ENSG00000175283	HGNC:23406													
DPAGT1	gene	DPAGT1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750;MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2						False	3	100;0;0	9.382	False		ENSG00000172269	ENSG00000172269	HGNC:2995													
DPF2	gene	DPF2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 7, 618027;intellectual disability				26350204;29429572		False	3	40;0;60	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000133884	ENSG00000133884	HGNC:9964													
DPH1	gene	DPH1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901				25558065;26220823;27457812;29362492;29410513;30877278		False	3	100;0;0	9.382	False		ENSG00000108963	ENSG00000108963	HGNC:3003													
DPH5	gene	DPH5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070				35482014		False	3	67;33;0	9.382	False		ENSG00000117543	ENSG00000117543	HGNC:24270													
DPM1	gene	DPM1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ie, OMIM:608799						False	3	100;0;0	9.382	False		ENSG00000000419	ENSG00000000419	HGNC:3005													
DPM2	gene	DPM2	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Iu, OMIM:615042				23109149;26453362;33129689		False	3	100;0;0	9.382	False		ENSG00000136908	ENSG00000136908	HGNC:3006													
DPYD	gene	DPYD	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270						False	3	0;0;100	9.382	False		ENSG00000188641	ENSG00000188641	HGNC:3012													
DPYS	gene	DPYS	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dihydropyrimidinuria, OMIM:222748				9266350;17383919;20362666;27604308;26771602;29054612		False	3	100;0;0	9.382	False		ENSG00000147647	ENSG00000147647	HGNC:3013													
DPYSL5	gene	DPYSL5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities				33894126		False	3	100;0;0	9.382	False		ENSG00000157851	ENSG00000157851	HGNC:20637													
DTYMK	gene	DTYMK	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability;Microcephaly;Seizures;Global brain atrophy;Cardiorespiratory arrest				31271740;34918187;35346037		False	3	100;0;0	9.382	False		ENSG00000168393	ENSG00000168393	HGNC:3061													
DYM	gene	DYM	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326;SMITH-MCCORT DYSPLASIA (SMC)						False	3	100;0;0	9.382	False		ENSG00000141627	ENSG00000141627	HGNC:21317													
DYNC1H1	gene	DYNC1H1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental Retardation, Dominant;Charcot-Marie-Tooth disease, axonal, type 20, 614228;Mental retardation, autosomal dominant 13, 614563;Spinal muscular atrophy, lower extremity-predominant, AD, 158600;SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD				25529582;24896178;22459677		False	3	100;0;0	9.382	False		ENSG00000197102	ENSG00000197102	HGNC:2961													
DYRK1A	gene	DYRK1A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 7, 614104;MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7						False	3	100;0;0	9.382	False		ENSG00000157540	ENSG00000157540	HGNC:3091													
EARS2	gene	EARS2	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 12, MIM#614924				22492562;23008233		False	3	100;0;0	9.382	False		ENSG00000103356	ENSG00000103356	HGNC:29419													
EBF3	gene	EBF3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypotonia, ataxia, and delayed development syndrome OMIM:617330;hypotonia, ataxia, and delayed development syndrome MONDO:0015021						False	3	100;0;0	9.382	False		ENSG00000108001	ENSG00000108001	HGNC:19087													
EBP	gene	EBP	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED				10391219;10942423;12503101;11038443;10391218		False	3	50;50;0	9.382	False		ENSG00000147155	ENSG00000147155	HGNC:3133													
EDEM3	gene	EDEM3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type 2V, OMIM:619493				34143952		False	3	100;0;0	9.382	False		ENSG00000116406	ENSG00000116406	HGNC:16787													
EED	gene	EED	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cohen-Gibson syndrome, 617561;Human overgrowth syndrome type;Overgrowth with Intellectual disability				25787343;27193220;27868325;28229514;28475857		False	3	100;0;0	9.382	False		ENSG00000074266	ENSG00000074266	HGNC:3188													
EEF1A2	gene	EEF1A2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	INFANTILE EPILEPTIC ENCEPHALOPATHY				23647072		False	3	100;0;0	9.382	False		ENSG00000101210	ENSG00000101210	HGNC:3192													
EEF1D	gene	EEF1D	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150				36576126;30787422;38083972;28097321		False	3	100;0;0	9.382	False		ENSG00000104529	ENSG00000104529	HGNC:3211													
EEFSEC	gene	EEFSEC	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102				39753114		False	3	100;0;0	9.382	False		ENSG00000132394	ENSG00000132394	HGNC:24614													
EFTUD2	gene	EFTUD2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mandibulofacial dysostosis, Guion-Almeida type, 610536;MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; MFDM						False	3	100;0;0	9.382	False		ENSG00000108883	ENSG00000108883	HGNC:30858													
EHMT1	gene	EHMT1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kleefstra syndrome, 610253;9Q SUBTELOMERIC DELETION SYNDROME (9Q- SYNDROME)						False	3	100;0;0	9.382	False		ENSG00000181090	ENSG00000181090	HGNC:24650													
EIF2AK2	gene	EIF2AK2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, OMIM:618877				32197074;33236446		False	3	100;0;0	9.382	False		ENSG00000055332	ENSG00000055332	HGNC:9437													
EIF2AK3	gene	EIF2AK3	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Wolcott-Rallison syndrome, 226980;WOLCOTT-RALLISON SYNDROME (WRS)						False	3	100;0;0	9.382	False		ENSG00000172071	ENSG00000172071	HGNC:3255													
EIF2S3	gene	EIF2S3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked, syndromic, Borck type, 300987						False	3	33;0;67	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000130741	ENSG00000130741	HGNC:3267													
EIF3F	gene	EIF3F	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 67, OMIM:618295				30409806		False	3	100;0;0	9.382	False		ENSG00000175390	ENSG00000175390	HGNC:3275													
EIF4A2	gene	EIF4A2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Neurodevelopmental disorder				36528028		False	3	100;0;0	9.382	False		ENSG00000156976	ENSG00000156976	HGNC:3284													
EIF4A3	gene	EIF4A3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Robin sequence with cleft mandible and limb anomalies, 268305;Richieri-Costa-Pereira syndrome;intellectual disability				25529582;24360810;29112243;21271648;23376982		False	3	100;0;0	9.382	False		ENSG00000141543	ENSG00000141543	HGNC:18683													
EIF5A	gene	EIF5A	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Faundes-Banka syndrome, OMIM:619376				33547280		False	3	100;0;0	9.382	False		ENSG00000132507	ENSG00000132507	HGNC:3300													
ELAC2	gene	ELAC2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY				0		False	3	33;67;0	9.382	False		ENSG00000006744	ENSG00000006744	HGNC:14198													
ELFN1	gene	ELFN1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder, MONDO:0700092				40576023;34509675;34452636		False	3	100;0;0	9.382	False		ENSG00000225968	ENSG00000225968	HGNC:33154													
ELOVL4	gene	ELOVL4	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457;ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION						False	3	100;0;0	9.382	False		ENSG00000118402	ENSG00000118402	HGNC:14415													
ELP2	gene	ELP2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 58  617270				21937992;25847581		False	3	33;0;67	9.382	False		ENSG00000134759	ENSG00000134759	HGNC:18248													
EMC1	gene	EMC1	Expert Review;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875				29271071;26942288;30914295		False	3	100;0;0	9.382	False		ENSG00000127463	ENSG00000127463	HGNC:28957													
EMC10	gene	EMC10	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264				32869858;33531666		False	3	100;0;0	9.382	False		ENSG00000161671	ENSG00000161671	HGNC:27609													
EML1	gene	EML1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Band heterotopia, OMIM:600348				28556411; 24859200		False	3	0;100;0	9.382	False		ENSG00000066629	ENSG00000066629	HGNC:3330													
ENTPD1	gene	ENTPD1	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 64, autosomal recessive, OMIM:615683				21937992;24482476;29691679;30652007;35471564;35758610		False	3	50;0;50	9.382	False		ENSG00000138185	ENSG00000138185	HGNC:3363													
EP300	gene	EP300	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	RUBINSTEIN-TAYBI SYNDROME TYPE 2 (RSTS2)				17299436;15706485;20014264;19353645		False	3	100;0;0	9.382	False		ENSG00000100393	ENSG00000100393	HGNC:3373													
EPB41L3	gene	EPB41L3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental disorder with seizures and myelination defects				39292993		False	3	100;0;0	9.382	False		ENSG00000082397	ENSG00000082397	HGNC:3380													
EPG5	gene	EPG5	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM				3344762;23222957		False	3	33;67;0	9.382	False		ENSG00000152223	ENSG00000152223	HGNC:29331													
ERBB4	gene	ERBB4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability MONDO:0001071				33603162;23633123;15219717;30498032		False	3	100;0;0	9.382	False		ENSG00000178568	ENSG00000178568	HGNC:3432													
ERCC1	gene	ERCC1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebrooculofacioskeletal syndrome 4, OMIM:610758				17273966		False	3	33;67;0	9.382	False		ENSG00000012061	ENSG00000012061	HGNC:3433													
ERCC2	gene	ERCC2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756;CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 (COFS2)						False	3	100;0;0	9.382	False		ENSG00000104884	ENSG00000104884	HGNC:3434													
ERCC3	gene	ERCC3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675;XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B)						False	3	100;0;0	9.382	False		ENSG00000163161	ENSG00000163161	HGNC:3435													
ERCC5	gene	ERCC5	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780;XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G)						False	3	100;0;0	9.382	False		ENSG00000134899	ENSG00000134899	HGNC:3437													
ERCC6	gene	ERCC6	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	De Sanctis-Cacchione syndrome, OMIM:278800						False	3	100;0;0	9.382	False		ENSG00000225830	ENSG00000225830	HGNC:3438													
ERCC6L2	gene	ERCC6L2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bone marrow failure syndrome 2, 615715				24507776		False	3	33;67;0	9.382	False		ENSG00000182150	ENSG00000182150	HGNC:26922													
ERCC8	gene	ERCC8	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621;COCKAYNE SYNDROME TYPE A (CSA)						False	3	100;0;0	9.382	False		ENSG00000049167	ENSG00000049167	HGNC:3439													
ERI1	gene	ERI1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	intellectual disability, MONDO:0001071				36208065;37352860		False	3	100;0;0	9.382	False		ENSG00000104626	ENSG00000104626	HGNC:23994													
ERLIN2	gene	ERLIN2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 18, autosomal recessive, 611225;intellectual disability;AUTOSOMAL RECESSIVE MENTAL RETARDATION				27824013;25977983;23897027;23109145;23109142;23085305;22554690;21796390;21330303		False	3	40;20;40	9.382	False		ENSG00000147475	ENSG00000147475	HGNC:1356													
ESAM	gene	ESAM	Expert Review;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371				36996813		False	3	100;0;0	9.382	False		ENSG00000149564	ENSG00000149564	HGNC:17474													
ESCO2	gene	ESCO2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Roberts syndrome, 268300SC phocomelia syndrome, 269000;SC PHOCOMELIA SYNDROME (SCPS)						False	3	100;0;0	9.382	False		ENSG00000171320	ENSG00000171320	HGNC:27230													
ETFA	gene	ETFA	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282				19249206;1430199;1882842;12815589;17412732;7912128		False	3	33;67;0	9.382	False		ENSG00000140374	ENSG00000140374	HGNC:3481													
ETFB	gene	ETFB	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282				7912128;12815589;25929793;27604308;30847515;32550677		False	3	33;67;0	9.382	False		ENSG00000105379	ENSG00000105379	HGNC:3482													
ETFDH	gene	ETFDH	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	GLUTARIC ACIDURIA TYPE 2C				0		False	3	33;67;0	9.382	False		ENSG00000171503	ENSG00000171503	HGNC:3483													
ETHE1	gene	ETHE1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ethylmalonic encephalopathy, 602473;ETHYLMALONIC ENCEPHALOPATHY						False	3	100;0;0	9.382	False		ENSG00000105755	ENSG00000105755	HGNC:23287													
EXOSC3	gene	EXOSC3	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 1B, OMIM:614678				0		False	3	100;0;0	9.382	False		ENSG00000107371	ENSG00000107371	HGNC:17944													
EXOSC8	gene	EXOSC8	Expert list;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 1C, OMIM:616081				24989451;38017281;34210538		False	3	100;0;0	9.382	False		ENSG00000120699	ENSG00000120699	HGNC:17035													
EXT2	gene	EXT2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seizures, scoliosis, and macrocephaly syndrome, 616682;autosomal recessive EXT2-related syndrome				25529582;26246518;30997052;30288735		False	3	100;0;0	9.382	False		ENSG00000151348	ENSG00000151348	HGNC:3513													
EXTL3	gene	EXTL3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425				28148688;28132690		False	3	100;0;0	9.382	False		ENSG00000012232	ENSG00000012232	HGNC:3518													
EZH1	gene	EZH1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				37433783		False	3	100;0;0	9.382	False	Other	ENSG00000108799	ENSG00000108799	HGNC:3526													
EZH2	gene	EZH2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	WEAVER SYNDROME 2				0		False	3	33;67;0	9.382	False		ENSG00000106462	ENSG00000106462	HGNC:3527													
FAM126A	gene	FAM126A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 5, 610532;LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5)						False	3	100;0;0	9.382	False		ENSG00000122591	ENSG00000122591	HGNC:24587													
FAM177A1	gene	FAM177A1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				25558065;38767059		False	3	100;0;0	9.382	False		ENSG00000151327	ENSG00000151327	HGNC:19829													
FAM20C	gene	FAM20C	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	RAINE SYNDROME				20825432;19250384;17924334		False	3	33;67;0	9.382	False		ENSG00000177706	ENSG00000177706	HGNC:22140													
FAM50A	gene	FAM50A	Expert Review Green;Literature	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation syndrome, X-linked, Armfield type, OMIM:300261;Armfield syndrome, MONDO:0010284				32703943		False	3	100;0;0	9.382	False		ENSG00000071859	ENSG00000071859	HGNC:18786													
FAR1	gene	FAR1	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154				25439727;30561787;33239752		False	3	100;0;0	9.382	False		ENSG00000197601	ENSG00000197601	HGNC:26222													
FARS2	gene	FARS2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 77, autosomal recessive, 617046;Combined oxidative phosphorylation deficiency 14, 614946				30869852		False	3	100;0;0	9.382	False		ENSG00000145982	ENSG00000145982	HGNC:21062													
FARSA	gene	FARSA	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013				31355908		False	3	0;0;100	9.382	False		ENSG00000179115	ENSG00000179115	HGNC:3592													
FAT4	gene	FAT4	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PERIVENTRICULAR NEURONAL HETEROTOPIA				24056717		False	3	33;67;0	9.382	False		ENSG00000196159	ENSG00000196159	HGNC:23109													
FBRSL1	gene	FBRSL1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;Microcephaly;Heart defect;Cleft palate;Contractures;Hearing impairment;Skin creases				32424618		False	3	100;0;0	9.382	False		ENSG00000112787	ENSG00000112787	HGNC:29308													
FBXL3	gene	FBXL3	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Short stature;Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220;Intellectual disability				30481285		False	3	100;0;0	9.382	False		ENSG00000005812	ENSG00000005812	HGNC:13599													
FBXL4	gene	FBXL4	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198				23993194		False	3	33;67;0	9.382	False		ENSG00000112234	ENSG00000112234	HGNC:13601													
FBXO11	gene	FBXO11	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089				30057029;29796876;27620904;27479843;28097321		False	3	100;0;0	9.382	True		ENSG00000138081	ENSG00000138081	HGNC:13590													
FBXO22	gene	FBXO22	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Tayoun-Maawali syndrome, OMIM:621184				40215970		False	3	100;0;0	9.382	False		ENSG00000167196	ENSG00000167196	HGNC:13593													
FBXO28	gene	FBXO28	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental and epileptic encephalopathy 100, OMIM:619777;developmental and epileptic encephalopathy 100, MONDO:0030695				30160831;33280099		False	3	100;0;0	9.382	False		ENSG00000143756	ENSG00000143756	HGNC:29046													
FBXO31	gene	FBXO31	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	?Intellectual developmental disorder, autosomal recessive 45, OMIM:615979				24623383;32989326;33675180;35019165;41858232		False	3	100;0;0	9.382	False		ENSG00000103264	ENSG00000103264	HGNC:16510													
FBXW11	gene	FBXW11	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914;neurodevelopmental, jaw, eye, and digital syndrome, MONDO:003005				31402090		False	3	100;0;0	9.382	False		ENSG00000072803	ENSG00000072803	HGNC:13607													
FBXW7	gene	FBXW7	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay, hypotonia, and impaired language, OMIM:620012				33057194;35395208;30885698;26482194;19963109;20332316		False	3	75;25;0	9.382	False		ENSG00000109670	ENSG00000109670	HGNC:16712													
FEM1B	gene	FEM1B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:621263;neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				31036916;38465576		False	3	67;0;33	9.382	False		ENSG00000169018	ENSG00000169018	HGNC:3649													
FGD1	gene	FGD1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400;AARSKOG-SCOTT SYNDROME (AAS)						False	3	100;0;0	9.382	False		ENSG00000102302	ENSG00000102302	HGNC:3663													
FGF12	gene	FGF12	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 47, 617166				25529582;27164707;27830185;27872899		False	3	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000114279	ENSG00000114279	HGNC:3668													
FH	gene	FH	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Fumarase deficiency, OMIM:606812						False	3	100;0;0	9.382	False		ENSG00000091483	ENSG00000091483	HGNC:3700													
FIBP	gene	FIBP	Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Thauvin-Robinet-Faivre syndrome, OMIM:617107;tall stature-intellectual disability-renal anomalies syndrome, MONDO:0014918				26660953;27183861;37876348;37218527		False	3	50;50;0	9.382	False		ENSG00000172500	ENSG00000172500	HGNC:3705													
FIG4	gene	FIG4	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4J, OMIM:611228;Charcot-Marie-Tooth disease type 4J MONDO:0012640;Yunis Varon syndrome OMIM:216340;Yunis-Varon syndrome MONDO:0008995				17572665;25529582		False	3	33;67;0	9.382	False		ENSG00000112367	ENSG00000112367	HGNC:16873													
FILIP1	gene	FILIP1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	intellectual disability, MONDO:0001071				36344539;37163662		False	3	100;0;0	9.382	False		ENSG00000118407	ENSG00000118407	HGNC:21015													
FKRP	gene	FKRP	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5,606612Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 (MDDGC5)						False	3	100;0;0	9.382	False		ENSG00000181027	ENSG00000181027	HGNC:17997													
FKTN	gene	FKTN	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152Cardiomyopathy, dilated, 1X, 611615Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 (MDDGB4)						False	3	100;0;0	9.382	False		ENSG00000106692	ENSG00000106692	HGNC:3622													
FLVCR1	gene	FLVCR1	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060;neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126				30656474;22279524;21267618;21070897;9409377;30444160;39306721		False	3	50;33;17	9.382	False		ENSG00000162769	ENSG00000162769	HGNC:24682													
FLVCR2	gene	FLVCR2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME				20206334;19635601;20518025		False	3	33;67;0	9.382	False		ENSG00000119686	ENSG00000119686	HGNC:20105													
FMN2	gene	FMN2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY				25480035		False	3	100;0;0	9.382	False		ENSG00000155816	ENSG00000155816	HGNC:14074													
FMR1	gene	FMR1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fragile X syndrome, OMIM:300624;Fragile X tremor/ataxia syndrome, OMIM:300623				21267007;25171808;28176767;29178241		False	3	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000102081	ENSG00000102081	HGNC:3775													
FOLR1	gene	FOLR1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY				21937992;19732866		False	3	33;67;0	9.382	False		ENSG00000110195	ENSG00000110195	HGNC:3791													
FOSL2	gene	FOSL2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aplasia cutis-enamel dysplasia syndrome, OMIM:620789				36197437		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000075426	ENSG00000075426	HGNC:3798													
FOXG1	gene	FOXG1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rett Syndrome, congenital variant OMIM:613454;Rett syndrome, congenital variant MONDO:0013270				21441262;19564653;19578037;27029630;18571142		False	3	100;0;0	9.382	False		ENSG00000176165	ENSG00000176165	HGNC:3811													
FOXP1	gene	FOXP1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation with language impairment and autistic features, 613670;Mental Retardation with Language Impairment and Autistic Features;MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES (MRLIAF)						False	3	100;0;0	9.382	False		ENSG00000114861	ENSG00000114861	HGNC:3823													
FOXP2	gene	FOXP2	Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Speech-Language Disorder 1;SPEECH-LANGUAGE DISORDER 1						False	3	100;0;0	9.382	False		ENSG00000128573	ENSG00000128573	HGNC:13875													
FOXRED1	gene	FOXRED1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241;mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624				20858599;10080174;17262856;23553477;20382551;22499348;12616398;15159508;11349233;11181577;21203893;9837812;10330338;19185523;16200211;15824269;10944442;20818383;9463323		False	3	33;67;0	9.382	False		ENSG00000110074	ENSG00000110074	HGNC:26927													
FRA10AC1	gene	FRA10AC1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113				34694367;35871492;35821753		False	3	100;0;0	9.382	False		ENSG00000148690	ENSG00000148690	HGNC:1162													
FRMD5	gene	FRMD5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094				36206744		False	3	100;0;0	9.382	False		ENSG00000171877	ENSG00000171877	HGNC:28214													
FRMPD4	gene	FRMPD4	Emory Genetics Laboratory;Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked 104, 300983;global developmental delay;intellectual disability				26350204;24896178;25644381;20613765;23871722;29267967		False	3	20;40;40	9.382	False		ENSG00000169933	ENSG00000169933	HGNC:29007													
FTCD	gene	FTCD	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (FIGLU-URIA)				12815595		False	3	33;67;0	9.382	False		ENSG00000160282	ENSG00000160282	HGNC:3974													
FTSJ1	gene	FTSJ1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 9, 309549;MENTAL RETARDATION X-LINKED TYPE 44 (MRX44)						False	3	100;0;0	9.382	False		ENSG00000068438	ENSG00000068438	HGNC:13254													
FUCA1	gene	FUCA1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Fucosidosis, 230000;FUCOSIDOSIS (FUCA1D);intellectual disability				8401503;9762612;8097260;2012122;2642067;1281988		False	3	100;0;0	9.382	False		ENSG00000179163	ENSG00000179163	HGNC:4006													
FUK	gene	FUK	Expert Review;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324				30503518;35718084;36426412		False	3	67;33;0	9.382	False		ENSG00000157353	ENSG00000157353	HGNC:29500													
FUT8	gene	FUT8	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation with defective fucosylation, 618005;Intellectual disability				29304374;15917429		False	3	100;0;0	9.382	False		ENSG00000033170	ENSG00000033170	HGNC:4019													
FZR1	gene	FZR1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 109, OMIM:620145				31318984;34788397		False	3	100;0;0	9.382	False		ENSG00000105325	ENSG00000105325	HGNC:24824													
GABBR2	gene	GABBR2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental and epileptic encephalopathy 59, OMIM:617904;eurodevelopmental disorder with poor language and loss of hand skills, OMIM:617903				29100083;28061363;28135719;28856709;29369404;29377213;39028675		False	3	0;50;50	9.382	False		ENSG00000136928	ENSG00000136928	HGNC:4507													
GABRA1	gene	GABRA1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	JUVENILE MYOCLONIC EPILEPSY				23934111		False	3	33;67;0	9.382	False		ENSG00000022355	ENSG00000022355	HGNC:4075													
GABRA2	gene	GABRA2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 78, 618557;intellectual disability;developmental delay				29422393;29961870;31032849;31032848;doi.org/10.1101/678219		False	3	100;0;0	9.382	False		ENSG00000151834	ENSG00000151834	HGNC:4076													
GABRA5	gene	GABRA5	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 79, 618559;developmental delay				29961870;31056671		False	3	100;0;0	9.382	False		ENSG00000186297	ENSG00000186297	HGNC:4079													
GABRB2	gene	GABRB2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, infantile or early childhood, 2, 617829;intellectual disability				25124326;27789573		False	3	0;100;0	9.382	False		ENSG00000145864	ENSG00000145864	HGNC:4082													
GABRB3	gene	GABRB3	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHILDHOOD ABSENCE EPILEPSY TYPE 5				18514161		False	3	33;67;0	9.382	False		ENSG00000166206	ENSG00000166206	HGNC:4083													
GABRD	gene	GABRD	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Epilepsy, idiopathic generalized, 10}, OMIM:613060;{Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060				34633442		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000187730	ENSG00000187730	HGNC:4084													
GABRG2	gene	GABRG2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, generalized, with febrile seizures plus, type 3 611277;Febrile seizures, familial, 8 611277;{Epilepsy, childhood absence, susceptibility to, 2} 607681				25124326;28460589		False	3	100;0;0	9.382	False		ENSG00000113327	ENSG00000113327	HGNC:4087													
GAD1	gene	GAD1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"?Cerebral palsy, spastic quadriplegic, 1	603513;Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele"				15571623;26503795;24896178;26350204;https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085		False	3	33;0;67	9.382	False		ENSG00000128683	ENSG00000128683	HGNC:4092													
GALC	gene	GALC	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Krabbe disease, OMIM:245200				8786069;8297359;20886637;21070211		False	3	33;67;0	9.382	False		ENSG00000054983	ENSG00000054983	HGNC:4115													
GALE	gene	GALE	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Galactose epimerase deficiency, 230350;EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)						False	3	100;0;0	9.382	False		ENSG00000117308	ENSG00000117308	HGNC:4116													
GALNT2	gene	GALNT2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIt 618885				27508872;32293671		False	3	100;0;0	9.382	False		ENSG00000143641	ENSG00000143641	HGNC:4124													
GALT	gene	GALT	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Galactosemia, OMIM:230400						False	3	100;0;0	9.382	False		ENSG00000213930	ENSG00000213930	HGNC:4135													
GAMT	gene	GAMT	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebral creatine deficiency syndrome 2, 612736;GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT DEFICIENCY)						False	3	100;0;0	9.382	False		ENSG00000130005	ENSG00000130005	HGNC:4136													
GAN	gene	GAN	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Giant axonal neuropathy-1, OMIM:256850				18595793;19231187;20301315		False	3	100;0;0	9.382	False		ENSG00000261609	ENSG00000261609	HGNC:4137													
GATAD2B	gene	GATAD2B	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 18, 615074;NONSPECIFIC SEVERE ID						False	3	100;0;0	9.382	False		ENSG00000143614	ENSG00000143614	HGNC:30778													
GATM	gene	GATM	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebral creatine deficiency syndrome 3, OMIM:612718						False	3	100;0;0	9.382	False		ENSG00000171766	ENSG00000171766	HGNC:4175													
GCDH	gene	GCDH	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	GLUTARICACIDEMIA TYPE 1				8900228;10699052;8900227;11174631;7795610		False	3	100;0;0	9.382	False		ENSG00000105607	ENSG00000105607	HGNC:4189													
GCH1	gene	GCH1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910;DYSTONIA TYPE 5 (DYT5)						False	3	100;0;0	9.382	False		ENSG00000131979	ENSG00000131979	HGNC:4193													
GCSH	gene	GCSH	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423;Glycine encephalopathy;Transient neonatal hyperglycinemia				36190515		False	3	50;0;50	9.382	False		ENSG00000140905	ENSG00000140905	HGNC:4208													
GDI1	gene	GDI1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 41, 300849;MENTAL RETARDATION X-LINKED TYPE 41 (MRX41)						False	3	100;0;0	9.382	False		ENSG00000203879	ENSG00000203879	HGNC:4226													
GEMIN4	gene	GEMIN4	Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913				25558065;27878435;35052432;35861185		False	3	100;0;0	9.382	False		ENSG00000179409	ENSG00000179409	HGNC:15717													
GEMIN5	gene	GEMIN5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333				33963192		False	3	100;0;0	9.382	False		ENSG00000082516	ENSG00000082516	HGNC:20043													
GFAP	gene	GFAP	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alexander disease, 203450;ALEXANDER DISEASE				12975300;11567214;12034796;12447932;11138011;14557587;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000131095	ENSG00000131095	HGNC:4235													
GFER	gene	GFER	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076;Intellectual disability				19409522;26018198;28155230		False	3	33;0;67	9.382	False		ENSG00000127554	ENSG00000127554	HGNC:4236													
GFM1	gene	GFM1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1				17160893		False	3	33;67;0	9.382	False		ENSG00000168827	ENSG00000168827	HGNC:13780													
GJC2	gene	GJC2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 2, OMIM:608804						False	3	100;0;0	9.382	False		ENSG00000198835	ENSG00000198835	HGNC:17494													
GK	gene	GK	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Glycerol kinase deficiency, 307030;GLYCEROL KINASE DEFICIENCY						False	3	33;67;0	9.382	False		ENSG00000198814	ENSG00000198814	HGNC:4289													
GLB1	gene	GLB1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010;MUCOPOLYSACCHARIDOSIS TYPE 4B (MPS4B)				1928092;1606711;1909089;10737981;10841810;8199591;1907800;8213816		False	3	100;0;0	9.382	False		ENSG00000170266	ENSG00000170266	HGNC:4298													
GLDC	gene	GLDC	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy, 605899;GLDC-RELATED GLYCINE ENCEPHALOPATHY						False	3	100;0;0	9.382	False		ENSG00000178445	ENSG00000178445	HGNC:4313													
GLI2	gene	GLI2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly-9, 610829;GLI2-RELATED HOLOPROSENCEPHALY						False	3	100;0;0	9.382	False		ENSG00000074047	ENSG00000074047	HGNC:4318													
GLIS3	gene	GLIS3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199						False	3	100;0;0	9.382	False		ENSG00000107249	ENSG00000107249	HGNC:28510													
GLRA2	gene	GLRA2	Expert Review Green;NHS GMS	Intellectual disability		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 syndromic, Pilorge type, OMIM:301076;intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772				20531469;20479760;26370147;28588452;35294868;29057625		False	3	60;0;40	9.382	False		ENSG00000101958	ENSG00000101958	HGNC:4327													
GLUL	gene	GLUL	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glutamine deficiency, congenital, OMIM:610015;Developmental and epileptic encephalopathy 116, OMIM:620806;congenital brain dysgenesis due to glutamine synthetase deficiency, MONDO:0012393;developmental and epileptic encephalopathy 116, MONDO:0970945				16267323;21353613;38579670;39985170;41083803		False	3	50;50;0	9.382	False		ENSG00000135821	ENSG00000135821	HGNC:4341													
GLYCTK	gene	GLYCTK	Expert Review;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	D-glyceric aciduria 220120						False	3	100;0;0	9.382	False		ENSG00000168237	ENSG00000168237	HGNC:24247													
GM2A	gene	GM2A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	GM2-gangliosidosis, AB variant, 272750;GM2-GANGLIOSIDOSIS TYPE AB (GM2GAB)				8900233;10364519;1915858;8244332;25529582		False	3	100;0;0	9.382	False		ENSG00000196743	ENSG00000196743	HGNC:4367													
GMPPA	gene	GMPPA	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION				24035193		False	3	100;0;0	9.382	False		ENSG00000144591	ENSG00000144591	HGNC:22923													
GMPPB	gene	GMPPB	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14	 OMIM:615351;muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352;autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142"				23768512;26503795;24896178;25529582		False	3	33;0;67	9.382	False		ENSG00000173540	ENSG00000173540	HGNC:22932													
GNAI1	gene	GNAI1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854				25529582;28135719		False	3	100;0;0	9.382	False		ENSG00000127955	ENSG00000127955	HGNC:4384													
GNAI2	gene	GNAI2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic intellectual disability				31036916;27787898;39298586		False	3	50;50;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000114353	ENSG00000114353	HGNC:4385													
GNAO1	gene	GNAO1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	EPILEPTIC ENCEPHALOPATHY;Neurodevelopmental disorder with involuntary movements, 617493;Epileptic encephalopathy, early infantile, 17, 615473				23993195		False	3	33;67;0	9.382	False		ENSG00000087258	ENSG00000087258	HGNC:4389													
GNAS	gene	GNAS	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pseudohypoparathyroidism Ia, OMIM:103580;pseudohypoparathyroidism type 1A, MONDO:0007078;Pseudohypoparathyroidism Ic, OMIM:612462;pseudohypoparathyroidism type 1C, MONDO:0012911;Pseudopseudohypoparathyroidism, OMIM:612463;pseudopseudohypoparathyroidism, MONDO:0012912						False	3	100;0;0	9.382	False		ENSG00000087460	ENSG00000087460	HGNC:4392													
GNB1	gene	GNB1	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 42 OMIM:616973;intellectual disability, autosomal dominant 42 MONDO:0014855				27108799;28087732		False	3	100;0;0	9.382	False		ENSG00000078369	ENSG00000078369	HGNC:4396													
GNB2	gene	GNB2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503				31698099;33971351;34183358		False	3	100;0;0	9.382	False		ENSG00000172354	ENSG00000172354	HGNC:4398													
GNB5	gene	GNB5	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182				27677260;28697420;29368331;30914295;27523599		False	3	100;0;0	9.382	False		ENSG00000069966	ENSG00000069966	HGNC:4401													
GNPAT	gene	GNPAT	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Chondrodysplasia punctata, rhizomelic, type 2, 222765;RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2)						False	3	100;0;0	9.382	False		ENSG00000116906	ENSG00000116906	HGNC:4416													
GNPTAB	gene	GNPTAB	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MUCOLIPIDOSIS TYPE II (MLII)				16465621;16200072;16116615		False	3	50;50;0	9.382	False		ENSG00000111670	ENSG00000111670	HGNC:29670													
GNPTG	gene	GNPTG	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C (MLIIIC)				19370764;20034096;10712439;19659762		False	3	33;67;0	9.382	False		ENSG00000090581	ENSG00000090581	HGNC:23026													
GNS	gene	GNS	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIID, OMIM:252940						False	3	100;0;0	9.382	False		ENSG00000135677	ENSG00000135677	HGNC:4422													
GPAA1	gene	GPAA1	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glycosylphosphatidylinositol biosynthesis defect 15, 617810;global developmental delay				29100095;24896178		False	3	0;0;0	9.382	False		ENSG00000197858	ENSG00000197858	HGNC:4446													
GPATCH11	gene	GPATCH11	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				39572588		False	3	100;0;0	9.382	False		ENSG00000152133	ENSG00000152133	HGNC:26768													
GPC3	gene	GPC3	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Simpson-Golabi-Behmel syndrome, type 1, 312870Wilms tumor, somatic, 194070;SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1						False	3	100;0;0	9.382	False		ENSG00000147257	ENSG00000147257	HGNC:4451													
GPC4	gene	GPC4	Expert list;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Keipert syndrome OMIM# 301026				30982611		False	3	100;0;0	9.382	False		ENSG00000076716	ENSG00000076716	HGNC:4452													
GPT2	gene	GPT2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281				27601654;28130718;29226631;25758935		False	3	100;0;0	9.382	False		ENSG00000166123	ENSG00000166123	HGNC:18062													
GRIA1	gene	GRIA1	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 67, OMIM:619927;?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931				28628100;23033978;26350204;24896178;35675825		False	3	60;0;40	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000155511	ENSG00000155511	HGNC:4571													
GRIA2	gene	GRIA2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917;neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060				28725178;26350204;24896178;22669415;28630856;31300657;30847515		False	3	60;0;40	9.382	False		ENSG00000120251	ENSG00000120251	HGNC:4572													
GRIA3	gene	GRIA3	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 94, 300699;MENTAL RETARDATION X-LINKED TYPE 94 (MRX94)						False	3	100;0;0	9.382	False		ENSG00000125675	ENSG00000125675	HGNC:4573													
GRIA4	gene	GRIA4	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864				29220673		False	3	100;0;0	9.382	False		ENSG00000152578	ENSG00000152578	HGNC:4574													
GRID2	gene	GRID2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 18, 616204				28856174;24078737;23611888;7792064;20395510		False	3	100;0;0	9.382	False		ENSG00000152208	ENSG00000152208	HGNC:4576													
GRIK2	gene	GRIK2	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mental retardation, autosomal recessive, 6, OMIM:611092;non-syndromic neurodevelopmental disorder (NDD), autosomal dominant				34375587;17847003;25039795		False	3	100;0;0	9.382	False		ENSG00000164418	ENSG00000164418	HGNC:4580													
GRIN1	gene	GRIN1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254;intellectual disability, autosomal dominant 8 MONDO:0013655;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820;neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629				28051072;27164704;28228639;21376300;25864721;27164704;23934111		False	3	33;0;67	9.382	False		ENSG00000176884	ENSG00000176884	HGNC:4584													
GRIN2A	gene	GRIN2A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy with neurodevelopmental defects, 613971;EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS						False	3	100;0;0	9.382	False		ENSG00000183454	ENSG00000183454	HGNC:4585													
GRIN2B	gene	GRIN2B	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970;Developmental and epileptic encephalopathy 27, OMIM:616139				20890276;24272827;28377535;35238837;36758276		False	3	100;0;0	9.382	False		ENSG00000273079	ENSG00000273079	HGNC:4586													
GRIN2D	gene	GRIN2D	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 46, 617162;intellectual disability				27616483;30280376		False	3	100;0;0	9.382	False		ENSG00000105464	ENSG00000105464	HGNC:4588													
GRM1	gene	GRM1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831				22901947;26308914;31319223;36140834		False	3	100;0;0	9.382	False		ENSG00000152822	ENSG00000152822	HGNC:4593													
GRM7	gene	GRM7	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922				32248644;32286009		False	3	100;0;0	9.382	False		ENSG00000196277	ENSG00000196277	HGNC:4599													
GTF2E2	gene	GTF2E2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy 6, nonphotosensitive, OMIM:616943				26996949;28973399		False	3	100;0;0	9.382	False		ENSG00000197265	ENSG00000197265	HGNC:4651													
GTF2H5	gene	GTF2H5	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy, complementation group A, 601675;TRICHOTHIODYSTROPHY PHOTOSENSITIVE						False	3	100;0;0	9.382	False		ENSG00000272047	ENSG00000272047	HGNC:21157													
GTF3C3	gene	GTF3C3	Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201;neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301				28940097;28097321;30552426;40040844		False	3	25;75;0	9.382	False		ENSG00000119041	ENSG00000119041	HGNC:4666													
GTF3C5	gene	GTF3C5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				35503477;38520561		False	3	100;0;0	9.382	False		ENSG00000148308	ENSG00000148308	HGNC:4668													
GTPBP2	gene	GTPBP2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Jaberi-Elahi syndrome, 617988;Global developmental delay;Intellectual disability;Seizures				26675814;29449720;25061210		False	3	100;0;0	9.382	False		ENSG00000172432	ENSG00000172432	HGNC:4670													
GTPBP3	gene	GTPBP3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY				25434004		False	3	33;67;0	9.382	False		ENSG00000130299	ENSG00000130299	HGNC:14880													
GUSB	gene	GUSB	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis VII, 253220;MUCOPOLYSACCHARIDOSIS TYPE 7 (MPS7)						False	3	100;0;0	9.382	False		ENSG00000169919	ENSG00000169919	HGNC:4696													
H3F3A	gene	H3F3A	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay;Intellectual disability;Neurodegeneration;Epilepsy;Facial dysmorphism;Congenital anomalies				31942419;33268356;33057194		False	3	100;0;0	9.382	False		ENSG00000163041	ENSG00000163041	HGNC:4764													
H3F3B	gene	H3F3B	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay;Intellectual disability;Neurodegeneration;Epilepsy;Facial dysmorphism;Congenital anomalies				33268356		False	3	100;0;0	9.382	False		ENSG00000132475	ENSG00000132475	HGNC:4765													
HACE1	gene	HACE1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia and psychomotor retardation with or without seizures 616756				26424145;26437029;29423242;31321300;33813722		False	3	100;0;0	9.382	False		ENSG00000085382	ENSG00000085382	HGNC:21033													
HADHA	gene	HADHA	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY				7811722		False	3	33;67;0	9.382	False		ENSG00000084754	ENSG00000084754	HGNC:4801													
HCCS	gene	HCCS	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Microphthalmia, syndromic 7, 309801;MICROPHTHALMIA SYNDROMIC TYPE 7 (MCOPS7)						False	3	100;0;0	9.382	False		ENSG00000004961	ENSG00000004961	HGNC:4837													
HCFC1	gene	HCFC1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 3, 309541;MENTAL RETARDATION, X-LINKED 3; MRX3						False	3	100;0;0	9.382	False		ENSG00000172534	ENSG00000172534	HGNC:4839													
HCN1	gene	HCN1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24				24747641		False	3	33;67;0	9.382	False		ENSG00000164588	ENSG00000164588	HGNC:4845													
HDAC3	gene	HDAC3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				39047730		False	3	100;0;0	9.382	False		ENSG00000171720	ENSG00000171720	HGNC:4854													
HDAC4	gene	HDAC4	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brachydactyly-mental retardation syndrome, 600430;BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (BDMR)				30848064;24715439;20691407;31209962;25529582;24896178		False	3	80;20;0	9.382	False		ENSG00000068024	ENSG00000068024	HGNC:14063													
HDAC8	gene	HDAC8	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Wilson-Turner syndrome, 309585Cornelia de Lange syndrome 5, 300882;CORNELIA DE LANGE-LIKE SYNDROME						False	3	100;0;0	9.382	False		ENSG00000147099	ENSG00000147099	HGNC:13315													
HECTD4	gene	HECTD4	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250				36401616		False	3	100;0;0	9.382	False		ENSG00000173064	ENSG00000173064	HGNC:26611													
HECW2	gene	HECW2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268				27389779;27334371;34321324		False	3	0;0;0	9.382	False	Other	ENSG00000138411	ENSG00000138411	HGNC:29853													
HEPACAM	gene	HEPACAM	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926				21419380		False	3	100;0;0	9.382	False		ENSG00000165478	ENSG00000165478	HGNC:26361													
HERC1	gene	HERC1	Expert Review Green;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly, dysmorphic facies, and psychomotor retardation 617011				26138117;26153217;27108999		False	3	100;0;0	9.382	False		ENSG00000103657	ENSG00000103657	HGNC:4867													
HERC2	gene	HERC2	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 38, OMIM:615516				23065719;23243086;30902390;32571899;27848944;26077850;27759030		False	3	50;50;0	9.382	False		ENSG00000128731	ENSG00000128731	HGNC:4868													
HESX1	gene	HESX1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Growth hormone deficiency with pituitary anomalies, OMIM:182230;Pituitary hormone deficiency, combined, 5, OMIM:182230;Septooptic dysplasia, OMIM:182230						False	3	100;0;0	9.382	False		ENSG00000163666	ENSG00000163666	HGNC:4877													
HEXA	gene	HEXA	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Tay-Sachs disease, 272800;GM2-gangliosidosis, several forms, 272800;GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1)						False	3	100;0;0	9.382	False		ENSG00000213614	ENSG00000213614	HGNC:4878													
HEXB	gene	HEXB	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800						False	3	100;0;0	9.382	False		ENSG00000049860	ENSG00000049860	HGNC:4879													
HGSNAT	gene	HGSNAT	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MUCOPOLYSACCHARIDOSIS TYPE 3C (MPS3C)				16960811;18518886;18024218;17033958;20825431		False	3	100;0;0	9.382	False		ENSG00000165102	ENSG00000165102	HGNC:26527													
HIBCH	gene	HIBCH	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	HIBCH DEFICIENCY				7122152		False	3	33;67;0	9.382	False		ENSG00000198130	ENSG00000198130	HGNC:4908													
HID1	gene	HID1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Syndromic infantile encephalopathy;Hypopituitarism;Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983				33999436		False	3	100;0;0	9.382	False		ENSG00000167861	ENSG00000167861	HGNC:15736													
HIST1H1E	gene	HIST1H1E	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rahman syndrome, 617537; mild to severe intellectual disability				28475857;34788807		False	3	0;0;0	9.382	False		ENSG00000168298	ENSG00000168298	HGNC:4718													
HIST1H4C	gene	HIST1H4C	Expert Review Green;Gene2Phenotype;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758				28920961;35202563		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000197061	ENSG00000197061	HGNC:4787													
HIST1H4E	gene	HIST1H4E	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Tessadori-van Haaften neurodevelopmental syndrome 3, OMIM:619950;Tessadori-Van Haaften neurodevelopmental syndrome 3 MONDO:0030993				35202563		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000198518	ENSG00000276966	HGNC:4790													
HIVEP2	gene	HIVEP2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 43, 616977;MRD43;Intellectual disability				23020937;26153216;27003583;26350204		False	3	33;0;67	9.382	False		ENSG00000010818	ENSG00000010818	HGNC:4921													
HK1	gene	HK1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547				30778173;28135719		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000156515	ENSG00000156515	HGNC:4922													
HLCS	gene	HLCS	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Holocarboxylase synthetase deficiency, 253270;HOLOCARBOXYLASE SYNTHETASE DEFICIENCY						False	3	33;67;0	9.382	False		ENSG00000159267	ENSG00000159267	HGNC:4976													
HMGB1	gene	HMGB1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay and microcephaly				34164801		False	3	100;0;0	9.382	False		ENSG00000189403	ENSG00000189403	HGNC:4983													
HMGCL	gene	HMGCL	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	HMG-CoA lyase deficiency, 246450;3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMGCLD;Intellectual disability				28583327;8617516;9463337;11129331		False	3	50;50;0	9.382	False		ENSG00000117305	ENSG00000117305	HGNC:5005													
HNMT	gene	HNMT	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 51, OMIM:616739				26206890;30744146;33310825;33739554		False	3	75;25;0	9.382	False		ENSG00000150540	ENSG00000150540	HGNC:5028													
HNRNPC	gene	HNRNPC	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 74, OMIM:620688				37541189;40004505		False	3	100;0;0	9.382	False		ENSG00000092199	ENSG00000092199	HGNC:5035													
HNRNPH1	gene	HNRNPH1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HNRNPH1 related syndromic intellectual disability;Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083				32335897;29938792		False	3	100;0;0	9.382	False		ENSG00000169045	ENSG00000169045	HGNC:5041													
HNRNPH2	gene	HNRNPH2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked, syndromic, Bain type, 300986;MRXSB				27545675		False	3	100;0;0	9.382	False		ENSG00000126945	ENSG00000126945	HGNC:5042													
HNRNPK	gene	HNRNPK	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Au-Kline syndrome, 616580;intellectual disability				26173930;26954065;28771707;26638989;28374925;29904177		False	3	100;0;0	9.382	False		ENSG00000165119	ENSG00000165119	HGNC:5044													
HNRNPR	gene	HNRNPR	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Seizures;Postnatal microcephaly;Short digit;Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073				31079900;26795593		False	3	100;0;0	9.382	False		ENSG00000125944	ENSG00000125944	HGNC:5047													
HNRNPU	gene	HNRNPU	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 54, OMIM:617391				25529582;24896178;23934111;23708187;27652284		False	3	100;0;0	9.382	False		ENSG00000153187	ENSG00000153187	HGNC:5048													
HOXA1	gene	HOXA1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536;BOSLEY-SALIH-ALORAINY SYNDROME (BSAS)						False	3	100;0;0	9.382	False		ENSG00000105991	ENSG00000105991	HGNC:5099													
HPD	gene	HPD	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Tyrosinemia, type III, 276710Hawkinsinuria, 140350;HAWKINSINURIA (HAWK)						False	3	100;0;0	9.382	False		ENSG00000158104	ENSG00000158104	HGNC:5147													
HPDL	gene	HPDL	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613				32707086;33188300		False	3	100;0;0	9.382	False		ENSG00000186603	ENSG00000186603	HGNC:28242													
HPRT1	gene	HPRT1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lesch-Nyhan syndrome, OMIM:300322						False	3	100;0;0	9.382	False		ENSG00000165704	ENSG00000165704	HGNC:5157													
HRAS	gene	HRAS	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;COSTELLO SYNDROME						False	3	100;0;0	9.382	False		ENSG00000174775	ENSG00000174775	HGNC:5173													
HSD17B10	gene	HSD17B10	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	HSD10 mitochondrial disease, OMIM:300438				26950678;12696021;19706438;22132097;16148061;12555940;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000072506	ENSG00000072506	HGNC:4800													
HSD17B4	gene	HSD17B4	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PERRAULT SYNDROME				9345094;9482850;11992265;2921319;10400999;11743515		False	3	33;67;0	9.382	False		ENSG00000133835	ENSG00000133835	HGNC:5213													
HSPD1	gene	HSPD1	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 4, OMIM:612233				18571143;27405012		False	3	100;0;0	9.382	False		ENSG00000144381	ENSG00000144381	HGNC:5261													
HTRA2	gene	HTRA2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"3-methylglutaconic aciduria, type VIII	617248"				27208207; 27696117		False	3	100;0;0	9.382	False		ENSG00000115317	ENSG00000115317	HGNC:14348													
HUWE1	gene	HUWE1	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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 syndromic, Turner type, OMIM:309590				7943042;18252223;24896178;25529582;29180823		False	3	100;0;0	9.382	False		ENSG00000086758	ENSG00000086758	HGNC:30892													
IARS	gene	IARS	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093				27426735		False	3	100;0;0	9.382	False		ENSG00000196305	ENSG00000196305	HGNC:5330													
IBA57	gene	IBA57	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330				28671726;23462291;25971455;28913435;27785568		False	3	100;0;0	9.382	False		ENSG00000181873	ENSG00000181873	HGNC:27302													
IDH2	gene	IDH2	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"D-2-hydroxyglutaric aciduria 2	613657"				20847235;24049096		False	3	0;0;0	9.382	False		ENSG00000182054	ENSG00000182054	HGNC:5383													
IDS	gene	IDS	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mucopolysaccharidosis II, 309900;MUCOPOLYSACCHARIDOSIS TYPE 2 (MPS2)						False	3	100;0;0	9.382	False		ENSG00000010404	ENSG00000010404	HGNC:5389													
IDUA	gene	IDUA	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015;MUCOPOLYSACCHARIDOSIS TYPE 1S (MPS1S)						False	3	100;0;0	9.382	False		ENSG00000127415	ENSG00000127415	HGNC:5391													
IER3IP1	gene	IER3IP1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS; Intellectual disability				21835305;22991235;24138066		False	3	50;0;50	9.382	False		ENSG00000134049	ENSG00000134049	HGNC:18550													
IFIH1	gene	IFIH1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aicardi-Goutieres syndrome 7, OMIM:615846				24995871		False	3	33;67;0	9.382	False		ENSG00000115267	ENSG00000115267	HGNC:18873													
IFT172	gene	IFT172	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MAINZER-SALDINO SYNDROME				24140113		False	3	33;67;0	9.382	False		ENSG00000138002	ENSG00000138002	HGNC:30391													
IGF1	gene	IGF1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Insulin-like growth factor I deficiency, OMIM:608747						False	3	100;0;0	9.382	False		ENSG00000017427	ENSG00000017427	HGNC:5464													
IGF1R	gene	IGF1R	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Insulin-like growth factor I, resistance to, OMIM:270450				25529582;26252249;22130793;14657428;23045302		False	3	67;33;0	9.382	False		ENSG00000140443	ENSG00000140443	HGNC:5465													
IKBKG	gene	IKBKG	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Incontinentia pigmenti, OMIM:308300						False	3	33;67;0	9.382	False		ENSG00000073009	ENSG00000269335	HGNC:5961													
IL1RAPL1	gene	IL1RAPL1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental Retardation, X-linked;Mental retardation, X-linked 21/34, 300143;MENTAL RETARDATION X-LINKED TYPE 21 (MRX21)						False	3	100;0;0	9.382	False		ENSG00000169306	ENSG00000169306	HGNC:5996													
IMPDH2	gene	IMPDH2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with dystonia				33098801		False	3	100;0;0	9.382	False		ENSG00000178035	ENSG00000178035	HGNC:6053													
INPP4A	gene	INPP4A	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				21937992;31978615;31938306;25338135;20011524;36653678;39315527;40748307;40772914		False	3	33;17;50	9.382	False		ENSG00000040933	ENSG00000040933	HGNC:6074													
INPP5E	gene	INPP5E	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156;Joubert syndrome 1, 213300;MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS (MORMS)				26748598;25529582;24896178;19668216		False	3	100;0;0	9.382	False		ENSG00000148384	ENSG00000148384	HGNC:21474													
INPP5K	gene	INPP5K	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment				28190459; 28190456		False	3	100;0;0	9.382	False		ENSG00000132376	ENSG00000132376	HGNC:33882													
INTS1	gene	INTS1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571				28542170;30622326;17544522;31428919		False	3	50;50;0	9.382	False		ENSG00000164880	ENSG00000164880	HGNC:24555													
INTS11	gene	INTS11	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428				37054711		False	3	100;0;0	9.382	False		ENSG00000127054	ENSG00000127054	HGNC:26052													
IQSEC2	gene	IQSEC2	Emory Genetics Laboratory;Expert Review;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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 1, OMIM:309530				20473311;23674175;30842726;31415821;33368194		False	3	100;0;0	9.382	False		ENSG00000124313	ENSG00000124313	HGNC:29059													
IREB2	gene	IREB2	Expert list;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451				11175792;30915432;31243445;35602653		False	3	100;0;0	9.382	False		ENSG00000136381	ENSG00000136381	HGNC:6115													
IRF2BPL	gene	IRF2BPL	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088;neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759				30057031;28135719;25363768;30166628		False	3	100;0;0	9.382	False		ENSG00000119669	ENSG00000119669	HGNC:14282													
IRX5	gene	IRX5	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY				0		False	3	100;0;0	9.382	False		ENSG00000176842	ENSG00000176842	HGNC:14361													
ISPD	gene	ISPD	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643;WALKER WARBURG SYNDROME						False	3	100;0;0	9.382	False		ENSG00000214960	ENSG00000214960	HGNC:37276													
ITPA	gene	ITPA	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 35, 616647				26224535;30816001;19498443		False	3	100;0;0	9.382	False		ENSG00000125877	ENSG00000125877	HGNC:6176													
ITPR1	gene	ITPR1	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Gillespie syndrome, OMIM:206700;Spinocerebellar ataxia 15, OMIM:606658;Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360				22986007;29925855;27108797		False	3	40;60;0	9.382	False		ENSG00000150995	ENSG00000150995	HGNC:6180													
ITSN1	gene	ITSN1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				34707297		False	3	100;0;0	9.382	False		ENSG00000205726	ENSG00000205726	HGNC:6183													
IVD	gene	IVD	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	ISOVALERIC ACIDEMIA				2063866;15486829;10677295;1310317		False	3	33;67;0	9.382	False		ENSG00000128928	ENSG00000128928	HGNC:6186													
JAM3	gene	JAM3	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730;HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS						False	3	100;0;0	9.382	False		ENSG00000166086	ENSG00000166086	HGNC:15532													
JARID2	gene	JARID2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;Neurodevelopmental syndrome;Developmental delay with variable intellectual disability and dysmorphic facies, OMIM:620098				23294540;33077894		False	3	100;0;0	9.382	False		ENSG00000008083	ENSG00000008083	HGNC:6196													
KANSL1	gene	KANSL1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Koolen-De Vries syndrome, 610443;Intellectual Disability Syndrome;CHROMOSOME 17Q21.31 MICRODELETION SYNDROME						False	3	100;0;0	9.382	False		ENSG00000120071	ENSG00000120071	HGNC:24565													
KARS	gene	KARS	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability;Seizures;?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641;Deafness, autosomal recessive 89, 613916				29615062;30252186;28496994;28887846;25330800		False	3	100;0;0	9.382	False		ENSG00000065427	ENSG00000065427	HGNC:6215													
KAT5	gene	KAT5	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Severe global developmental delay;Intellectual disability;Seizures;Microcephaly;Behavioral abnormality;Sleep disturbance;Morphological abnormality of the central nervous system;Short stature;Oral cleft;Abnormality of the face				32822602		False	3	100;0;0	9.382	False		ENSG00000172977	ENSG00000172977	HGNC:5275													
KAT6A	gene	KAT6A	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MENTAL RETARDATION, AUTOSOMAL DOMINANT 32				25728775		False	3	100;0;0	9.382	False		ENSG00000083168	ENSG00000083168	HGNC:13013													
KAT6B	gene	KAT6B	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SBBYSS syndrome, 603736Genitopatellar syndrome, 606170;BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE						False	3	100;0;0	9.382	False		ENSG00000156650	ENSG00000156650	HGNC:17582													
KAT8	gene	KAT8	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974;Global developmental delay;Intellectual disability;Seizures;Abnormality of vision;Feeding difficulties;Abnormality of the cardiovascular system;Autism				31794431		False	3	100;0;0	9.382	False	Other	ENSG00000103510	ENSG00000103510	HGNC:17933													
KCNA2	gene	KCNA2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	EPILEPTIC ENCEPHALOPATHY.				25751627		False	3	33;67;0	9.382	False		ENSG00000177301	ENSG00000177301	HGNC:6220													
KCNA3	gene	KCNA3	Expert Review;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				37964487		False	3	100;0;0	9.382	False		ENSG00000177272	ENSG00000177272	HGNC:6221													
KCNB1	gene	KCNB1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26				25164438		False	3	33;67;0	9.382	False		ENSG00000158445	ENSG00000158445	HGNC:6231													
KCNB2	gene	KCNB2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				38503299		False	3	100;0;0	9.382	False		ENSG00000182674	ENSG00000182674	HGNC:6232													
KCNC1	gene	KCNC1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	EPILEPSY, PROGRESSIVE MYOCLONIC 7				25401298;28145425		False	3	33;67;0	9.382	False		ENSG00000129159	ENSG00000129159	HGNC:6233													
KCND2	gene	KCND2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	global developmental delay, HP:0001263				34245260;16934482;24501278		False	3	0;0;0	9.382	False	Other	ENSG00000184408	ENSG00000184408	HGNC:6238													
KCNH1	gene	KCNH1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Temple-Baraitser syndrome, OMIM:611816;Zimmermann-Laband syndrome 1, OMIM:135500;Intellectual disability;Encephalopathy without features of TBS/ZLS				25420144;33594261;33811134		False	3	100;0;0	9.382	False		ENSG00000143473	ENSG00000143473	HGNC:6250													
KCNH5	gene	KCNH5	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 112, OMIM:620537				23647072;35874597;36307226;24133262		False	3	50;0;50	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000140015	ENSG00000140015	HGNC:6254													
KCNJ10	gene	KCNJ10	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, andElectrolyte Imbalance Syndrome;SESAME syndrome, 612780Enlarged vestibular aqueduct, digenic, 600791;SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME)						False	3	100;0;0	9.382	False		ENSG00000177807	ENSG00000177807	HGNC:6256													
KCNJ11	gene	KCNJ11	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582;FAMILIAL HYPERINSULINISM				25678012;16670688;27681997;28943513;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000187486	ENSG00000187486	HGNC:6257													
KCNJ6	gene	KCNJ6	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Keppen-Lubinsky syndrome  614098				25620207		False	3	33;67;0	9.382	False		ENSG00000157542	ENSG00000157542	HGNC:6267													
KCNK3	gene	KCNK3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental disorder with sleep apnea				36195757		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000171303	ENSG00000171303	HGNC:6278													
KCNK9	gene	KCNK9	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Birk-Barel mental retardation dysmorphism syndrome  612292				28333430; 27151206 ; 24980697; 18678320 		False	3	33;0;67	9.382	False	Other - please provide details in the comments	ENSG00000169427	ENSG00000169427	HGNC:6283													
KCNMA1	gene	KCNMA1	Expert Review Green	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cerebellar atrophy, developmental delay, and seizures, OMIM:617643;Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551;Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446;Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276;Liang-Wang syndrome, OMIM:618729;Liang-Wang syndrome, MONDO:0032886;{Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596;Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827				15937479;26195193;27567911;29330545;29545233;31152168;31427379		False	3	29;29;43	9.382	False		ENSG00000156113	ENSG00000156113	HGNC:6284													
KCNN2	gene	KCNN2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;seizures;movement disorder				33242881		False	3	100;0;0	9.382	False		ENSG00000080709	ENSG00000080709	HGNC:6291													
KCNN3	gene	KCNN3	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Zimmermann-Laband syndrome 3, OMIM:618658				31155282;33594261		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000143603	ENSG00000143603	HGNC:6292													
KCNQ2	gene	KCNQ2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 7, OMIM:613720				10323247;17872363;15249611;9430594;9425895;11175290;11572947;16235065;33811133		False	3	100;0;0	9.382	False		ENSG00000075043	ENSG00000075043	HGNC:6296													
KCNQ3	gene	KCNQ3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					25524373;20384724;25982755;28135719		False	3	50;0;50	9.382	False		ENSG00000184156	ENSG00000184156	HGNC:6297													
KCNQ5	gene	KCNQ5	Expert Review Green;Literature;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 46, 617601;intellectual disability				28669405 		False	3	67;33;0	9.382	False		ENSG00000185760	ENSG00000185760	HGNC:6299													
KCNT1	gene	KCNT1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005;MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY						False	3	100;0;0	9.382	False		ENSG00000107147	ENSG00000107147	HGNC:18865													
KCNT2	gene	KCNT2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental and epileptic encephalopathy 57, OMIM:617771;developmental and epileptic encephalopathy, 57, MONDO:0033366				29069600;29740868;37062836		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000162687	ENSG00000162687	HGNC:18866													
KCTD3	gene	KCTD3	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epilepsy and global developmental delay				29406573;27848944;25558065		False	3	100;0;0	9.382	False		ENSG00000136636	ENSG00000136636	HGNC:21305													
KCTD7	gene	KCTD7	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726;NEURONAL CEROID LIPOFUSCINOSIS						False	3	100;0;0	9.382	False		ENSG00000243335	ENSG00000243335	HGNC:21957													
KDM1A	gene	KDM1A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft palate, psychomotor retardation, and distinctive facial features, 616728;Developmental delay				26077434;24838796;26656649		False	3	25;0;75	9.382	False		ENSG00000004487	ENSG00000004487	HGNC:29079													
KDM2B	gene	KDM2B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, OMIM:621474				36322151;35128353;35710456		False	3	100;0;0	9.382	False		ENSG00000089094	ENSG00000089094	HGNC:13610													
KDM3B	gene	KDM3B	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diets-Jongmans syndrome, OMIM:618846;Diets-Jongmans syndrome, MONDO:0030012				30929739		False	3	50;50;0	9.382	False		ENSG00000120733	ENSG00000120733	HGNC:1337													
KDM4B	gene	KDM4B	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Global developmental delay, intellectual disability and neuroanatomical defects				33232677		False	3	100;0;0	9.382	False		ENSG00000127663	ENSG00000127663	HGNC:29136													
KDM5A	gene	KDM5A	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	autism spectrum disorder, MONDO:0005258;intellectual disability, MONDO:0001071;El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820				21937992;33350388		False	3	33;17;50	9.382	False		ENSG00000073614	ENSG00000073614	HGNC:9886													
KDM5B	gene	KDM5B	Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 65, OMIM:618109				25363768;24307393;29276005;30409806;25529582;30217758		False	3	100;0;0	9.382	False		ENSG00000117139	ENSG00000117139	HGNC:18039													
KDM5C	gene	KDM5C	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534				10982473;15586325;16538222;16541399;18203167;18697827;19826449;21575681;26919706;32279304		False	3	100;0;0	9.382	False		ENSG00000126012	ENSG00000126012	HGNC:11114													
KDM6A	gene	KDM6A	Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Kabuki syndrome 2, OMIM:300867						False	3	100;0;0	9.382	False		ENSG00000147050	ENSG00000147050	HGNC:12637													
KDM6B	gene	KDM6B	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505;neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790				21937992;31124279;37196654		False	3	40;0;60	9.382	False		ENSG00000132510	ENSG00000132510	HGNC:29012													
KIAA0556	gene	KIAA0556	ClinGen;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771				26714646;27245168;31197031;31197031;36580738;40725402;40428346;32164589;30982090		False	3	100;0;0	9.382	False		ENSG00000047578	ENSG00000047578	HGNC:29068													
KIAA0586	gene	KIAA0586	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 23 616490				26096313		False	3	100;0;0	9.382	False		ENSG00000100578	ENSG00000100578	HGNC:19960													
KIAA1109	gene	KIAA1109	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brain atrophy, Dandy Walker and Contractures;Alkuraya-Kucinskas syndrome,617822				25558065;29290337		False	3	100;0;0	9.382	False		ENSG00000138688	ENSG00000138688	HGNC:26953													
KIDINS220	gene	KIDINS220	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296				27005418;29667355;33763417		False	3	100;0;0	9.382	False		ENSG00000134313	ENSG00000134313	HGNC:29508													
KIF11	gene	KIF11	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950;AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY						False	3	100;0;0	9.382	False		ENSG00000138160	ENSG00000138160	HGNC:6388													
KIF14	gene	KIF14	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 20, primary, autosomal recessive, OMIM:617914;Microcephaly 20, primary, autosomal recessive, MONDO:0054761				29343805;28892560		False	3	100;0;0	9.382	False		ENSG00000118193	ENSG00000118193	HGNC:19181													
KIF1A	gene	KIF1A	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	NESCAV syndrome, OMIM:614255;Spastic paraplegia 30, autosomal dominant, OMIM:610357						False	3	100;0;0	9.382	False		ENSG00000130294	ENSG00000130294	HGNC:888													
KIF1BP	gene	KIF1BP	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Goldberg-Shprintzen megacolon syndrome, 609460				28277559		False	3	50;50;0	9.382	False		ENSG00000198954	ENSG00000198954	HGNC:23419													
KIF21B	gene	KIF21B	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Abnormality of brain morphology;Microcephaly				32415109		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000116852	ENSG00000116852	HGNC:29442													
KIF2A	gene	KIF2A	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cortical dysplasia, complex, with other brain malformations 3, 615411				23603762;21594994;27747449;27896282		False	3	25;75;0	9.382	False		ENSG00000068796	ENSG00000068796	HGNC:6318													
KIF4A	gene	KIF4A	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	?Intellectual developmental disorder, X-linked 100, OMIM:300923				24812067;34346154		False	3	50;0;50	9.382	False		ENSG00000090889	ENSG00000090889	HGNC:13339													
KIF5A	gene	KIF5A	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myoclonus, intractable, neonatal, 617235;intellectual disability				22258533;27463701;27414745		False	3	75;0;25	9.382	False		ENSG00000155980	ENSG00000155980	HGNC:6323													
KIF5C	gene	KIF5C	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2				23603762		False	3	100;0;0	9.382	False		ENSG00000168280	ENSG00000168280	HGNC:6325													
KIF7	gene	KIF7	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome 2, 614120Acrocallosal syndrome, 200990Joubert syndrome 12, 200990;ACROCALLOSAL SYNDROME						False	3	100;0;0	9.382	False		ENSG00000166813	ENSG00000166813	HGNC:30497													
KLF7	gene	KLF7	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability				29251763		False	3	100;0;0	9.382	False		ENSG00000118263	ENSG00000118263	HGNC:6350													
KLHL20	gene	KLHL20	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390				36214804		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000076321	ENSG00000076321	HGNC:25056													
KLHL7	gene	KLHL7	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	BOS-like phenotype				29074562;30300710;30142437		False	3	100;0;0	9.382	False		ENSG00000122550	ENSG00000122550	HGNC:15646													
KMT2A	gene	KMT2A	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wiedemann-Steiner syndrome, OMIM:605130						False	3	100;0;0	9.382	False		ENSG00000118058	ENSG00000118058	HGNC:7132													
KMT2B	gene	KMT2B	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 28, childhood-onset, OMIM:617284;Intellectual developmental disorder, autosomal dominant 68, OMIM:619934				25529582;27839873;27992417;29276005;25405613;29289525;29697234;31216378;33150406		False	3	100;0;0	9.382	False		ENSG00000272333	ENSG00000272333	HGNC:15840													
KMT2C	gene	KMT2C	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kleefstra syndrome 2, 617768				22726846;29069077;29276005		False	3	0;0;100	9.382	False		ENSG00000055609	ENSG00000055609	HGNC:13726													
KMT2D	gene	KMT2D	Eligibility statement prior genetic testing;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kabuki syndrome 1, OMIM:147920						False	3	100;0;0	9.382	False		ENSG00000167548	ENSG00000167548	HGNC:7133													
KMT2E	gene	KMT2E	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	O'Donnell-Luria-Rodan syndrome, 618512;Global developmental delay;Intellectual disability;Autism;Seizures;Abnormality of skull size				31079897;34321323		False	3	100;0;0	9.382	False		ENSG00000005483	ENSG00000005483	HGNC:18541													
KMT5B	gene	KMT5B	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 51, 617788				29276005;28191889;25363768		False	3	100;0;0	9.382	False		ENSG00000110066	ENSG00000110066	HGNC:24283													
KNL1	gene	KNL1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 4, primary, autosomal recessive, OMIM:604321;Microcephaly 4, primary, autosomal recessive, MONDO:0011437				22983954;  26621532; 26626498 		False	3	100;0;0	9.382	False		ENSG00000137812	ENSG00000137812	HGNC:24054													
KPTN	gene	KPTN	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 41, OMIM:615637;macrocephaly-developmental delay syndrome, MONDO:0014289				24239382		False	3	100;0;0	9.382	False		ENSG00000118162	ENSG00000118162	HGNC:6404													
KRAS	gene	KRAS	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lung cancer, somatic, 211980Bladder cancer, somatic, 109800Pancreatic carcinoma, somatic, 260350Gastric cancer, somatic, 137215Leukemia, acute myelogenousNoonan syndrome 3, 609942Cardiofaciocutaneous syndrome 2, 615278Breast cancer, somatic, 114480SFM syndrome, somatic mosaic, 163200;CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)						False	3	100;0;0	9.382	False		ENSG00000133703	ENSG00000133703	HGNC:6407													
L1CAM	gene	L1CAM	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Corpus callosum, partial agenesis of, OMIM:304100;CRASH syndrome, OMIM:303350;MASA syndrome, OMIM:303350;Hydrocephalus due to aqueductal stenosis, OMIM:307000;Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000;Hydrocephalus with Hirschsprung disease, OMIM:307000						False	3	100;0;0	9.382	False		ENSG00000198910	ENSG00000198910	HGNC:6470													
L2HGDH	gene	L2HGDH	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	L-2-hydroxyglutaric aciduria, 236792;L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA)						False	3	100;0;0	9.382	False		ENSG00000087299	ENSG00000087299	HGNC:20499													
LAMA1	gene	LAMA1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Poretti-Boltshauser syndrome OMIM:615960;ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419				21937992;30244536;25105227		False	3	100;0;0	9.382	False		ENSG00000101680	ENSG00000101680	HGNC:6481													
LAMA2	gene	LAMA2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855;CONGENITAL MUSCULAR DYSTROPHY						False	3	100;0;0	9.382	False		ENSG00000196569	ENSG00000196569	HGNC:6482													
LAMB1	gene	LAMB1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 5, OMIM:615191				0		False	3	0;100;0	9.382	False		ENSG00000091136	ENSG00000091136	HGNC:6486													
LAMP2	gene	LAMP2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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, 300257;DANON DISEASE (DAND)						False	3	100;0;0	9.382	False		ENSG00000005893	ENSG00000005893	HGNC:6501													
LARGE1	gene	LARGE1	Expert Review Green;Gene2Phenotype;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154;Muscle-eye-brain disease;MDDGA6;Walker-Warburg syndrome;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840;congenital muscular dystrophy-dystroglycanopathy with mental retardation;MDDGB6;Intellectual disability				12966029;19067344;17436019;19299310;21248746		False	3	100;0;0	9.382	False		ENSG00000133424	ENSG00000133424	HGNC:6511													
LARP7	gene	LARP7	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Alazami syndrome, 615071;ALAZAMI SYNDROME						False	3	100;0;0	9.382	False		ENSG00000174720	ENSG00000174720	HGNC:24912													
LARS	gene	LARS	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Infantile liver failure syndrome 1, MIM# 615438				32699352		False	3	100;0;0	9.382	False		ENSG00000133706	ENSG00000133706	HGNC:6512													
LETM1	gene	LETM1	Expert Review;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089				36055214;33815143		False	3	100;0;0	9.382	False		ENSG00000168924	ENSG00000168924	HGNC:6556													
LGI3	gene	LGI3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007				35948005		False	3	100;0;0	9.382	False		ENSG00000168481	ENSG00000168481	HGNC:18711													
LHX2	gene	LHX2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	neurodevelopmental disorder, MONDO:0700092				37057675		False	3	100;0;0	9.382	False		ENSG00000106689	ENSG00000106689	HGNC:6594													
LIAS	gene	LIAS	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperglycinemia, lactic acidosis, and seizures, 614462				22152680;26108146;24334290;30914295		False	3	50;50;0	9.382	False		ENSG00000121897	ENSG00000121897	HGNC:16429													
LIG4	gene	LIG4	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	LIG4 syndrome, OMIM:606593						False	3	100;0;0	9.382	False		ENSG00000174405	ENSG00000174405	HGNC:6601													
LINC01578	gene	LINC01578	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012				39442041		False	3	100;0;0	9.382	False		ENSG00000272888	ENSG00000272888	HGNC:48626													
LINGO4	gene	LINGO4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;speech disorder				33098801		False	3	100;0;0	9.382	False		ENSG00000213171	ENSG00000213171	HGNC:31814													
LINS1	gene	LINS1	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	AUTOSOMAL RECESSIVE MENTAL RETARDATION;Mental retardation, autosomal recessive 27, 614340				21937992;23773660;28181389;30090841		False	3	100;0;0	9.382	False		ENSG00000140471	ENSG00000140471	HGNC:30922													
LIPT1	gene	LIPT1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lipoyltransferase 1 deficiency, MIM#616299				24341803;24256811;29681092		False	3	100;0;0	9.382	False		ENSG00000144182	ENSG00000144182	HGNC:29569													
LMBRD2	gene	LMBRD2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay with variable neurologic and brain abnormalities, OMIM:619694				32820033;https://doi.org/10.1101/797787		False	3	0;100;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000164187	ENSG00000164187	HGNC:25287													
LMNB1	gene	LMNB1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microcephaly 26, primary, autosomal dominant, OMIM:619179				32910914;33033404		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000113368	ENSG00000113368	HGNC:6637													
LONP1	gene	LONP1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	CODAS syndrome, 600373;Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome				25574826;20503327;11471171;1887855		False	3	0;100;0	9.382	False		ENSG00000196365	ENSG00000196365	HGNC:9479													
LRP2	gene	LRP2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Donnai-Barrow syndrome, 222448;INTELLECTUAL DISABILITY						False	3	100;0;0	9.382	False		ENSG00000081479	ENSG00000081479	HGNC:6694													
LRPPRC	gene	LRPPRC	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, French-Canadian type, 220111;LEIGH SYNDROME, FRENCH-CANADIAN TYPE						False	3	100;0;0	9.382	False		ENSG00000138095	ENSG00000138095	HGNC:15714													
LRRC7	gene	LRRC7	Expert Review;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 77, OMIM:621415;intellectual developmental disorder, autosomal dominant 77, MONDO:0980748				36928819;39256359		False	3	100;0;0	9.382	False		ENSG00000033122	ENSG00000033122	HGNC:18531													
LSS	gene	LSS	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Alopecia;Abnormality of the skin;Cataract 44, Hypotrichosis 14, 616509, 618275;Microcephaly;Seizures;Abnormality of the genital system;Hypotonia;Intellectual disability;Global developmental delay				30723320;26200341;30401459;29016354		False	3	100;0;0	9.382	False		ENSG00000160285	ENSG00000160285	HGNC:6708													
LYRM7	gene	LYRM7	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 8, MIM#615838						False	3	100;0;0	9.382	False		ENSG00000186687	ENSG00000186687	HGNC:28072													
LZTR1	gene	LZTR1	Expert Review Green;Other	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Noonan syndrome 10;Prenatal hydrops;increased nuchal translucency;cardiac findings				25795793;29469822		False	3	0;0;0	9.382	False		ENSG00000099949	ENSG00000099949	HGNC:6742													
MAB21L1	gene	MAB21L1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability;Cerebellar hypoplasia;Abnormality of the eye;Abnormality of the genital system;No OMIM number				27103078;30487245		False	3	100;0;0	9.382	False		ENSG00000180660	ENSG00000180660	HGNC:6757													
MAB21L2	gene	MAB21L2	Expert Review Green	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	MICROPHTHALMIA, SYNDROMIC 14; MCOPS14				24906020		False	3	33;67;0	9.382	False		ENSG00000181541	ENSG00000181541	HGNC:6758													
MACF1	gene	MACF1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;Seizures;Lissencephaly;Brainstem dysplasia;Lissencephaly 9 with complex brainstem malformation, 618325				30471716;16815997		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000127603	ENSG00000127603	HGNC:13664													
MADD	gene	MADD	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	DEEAH syndrome, OMIM:619004;deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005;neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562				28940097;29302074;32761064		False	3	100;0;0	9.382	False		ENSG00000110514	ENSG00000110514	HGNC:6766													
MAF	gene	MAF	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES				0		False	3	100;0;0	9.382	False		ENSG00000178573	ENSG00000178573	HGNC:6776													
MAG	gene	MAG	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 75, autosomal recessive, OMIM:616680;hereditary spastic paraplegia 75, MONDO:0014729				24482476;26179919;27606346;31402626;39336794		False	3	100;0;0	9.382	False		ENSG00000105695	ENSG00000105695	HGNC:6783													
MAGEL2	gene	MAGEL2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	PRADER WILLI SYNDROME				24076603;25529582;29599419;29588991		False	3	25;50;25	9.382	False		ENSG00000254585	ENSG00000254585	HGNC:6814													
MAN1B1	gene	MAN1B1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental Retardation, Recessive;Mental retardation, autosomal recessive 15, 614202;AUTOSOMAL RECESSIVE MENTAL RETARDATION				21763484;21937992		False	3	100;0;0	9.382	False		ENSG00000177239	ENSG00000177239	HGNC:6823													
MAN2B1	gene	MAN2B1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mannosidosis, alpha-, types I and II, 248500;LYSOSOMAL ALPHA-MANNOSIDOSIS (AM)						False	3	100;0;0	9.382	False		ENSG00000104774	ENSG00000104774	HGNC:6826													
MAN2C1	gene	MAN2C1	Expert Review Green;Literature;NHS GMS;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of deglycosylation 2, OMIM:619775				35045343		False	3	100;0;0	9.382	False		ENSG00000140400	ENSG00000140400	HGNC:6827													
MANBA	gene	MANBA	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mannosidosis, beta, 248510;LYSOSOMAL BETA-MANNOSIDOSIS (LYSBMAN)						False	3	100;0;0	9.382	False		ENSG00000109323	ENSG00000109323	HGNC:6831													
MAOA	gene	MAOA	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Brunner syndrome, 300615;BRUNNER SYNDROME (BRUNS)						False	3	100;0;0	9.382	False		ENSG00000189221	ENSG00000189221	HGNC:6833													
MAP1B	gene	MAP1B	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Periventricular nodular heterotopia 9, 618918				30150678;29738522;30214071;31317654		False	3	67;33;0	9.382	False		ENSG00000131711	ENSG00000131711	HGNC:6836													
MAP2K1	gene	MAP2K1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome 3, 615279;CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)						False	3	100;0;0	9.382	False		ENSG00000169032	ENSG00000169032	HGNC:6840													
MAP2K2	gene	MAP2K2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome 4, 615280;CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)						False	3	100;0;0	9.382	False		ENSG00000126934	ENSG00000126934	HGNC:6842													
MAP4K4	gene	MAP4K4	DD-Gene2Phenotype;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MAP4K4-related neurodevelopmental disorder with/without congenital anomalies;multiple congenital anomalies;neurodevelopmental differences				36469137;28518170;37126546;37126546		False	3	100;0;0	9.382	False	Other	ENSG00000071054	ENSG00000071054	HGNC:6866													
MAPK1	gene	MAPK1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 13, OMIM:619087				32721402		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000100030	ENSG00000100030	HGNC:6871													
MAPK8IP3	gene	MAPK8IP3	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443				30612693;25363768;28213671;28135719		False	3	100;0;0	9.382	False		ENSG00000138834	ENSG00000138834	HGNC:6884													
MAPKAPK5	gene	MAPKAPK5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurocardiofaciodigital syndrome, OMIM:619869				33442026;35575217;36581449		False	3	100;0;0	9.382	False		ENSG00000089022	ENSG00000089022	HGNC:6889													
MAPRE2	gene	MAPRE2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Symmetric circumferential skin creases, congenital, 2, 616734				26637975;31903734;31502381		False	3	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000166974	ENSG00000166974	HGNC:6891													
MARK2	gene	MARK2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 76, OMIM:621285;intellectual developmental disorder, autosomal dominant 76, MONDO:0979575				39419027;39436150		False	3	100;0;0	9.382	False		ENSG00000072518	ENSG00000072518	HGNC:3332													
MASP1	gene	MASP1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3MC SYNDROME 1; 3MC1				21258343;21035106;17937425		False	3	33;67;0	9.382	False		ENSG00000127241	ENSG00000127241	HGNC:6901													
MAST1	gene	MAST1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures;Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures;Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273				30449657;28135719;25666757;27479843		False	3	100;0;0	9.382	False		ENSG00000105613	ENSG00000105613	HGNC:19034													
MAST3	gene	MAST3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					34185323;35095415		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000099308	ENSG00000099308	HGNC:19036													
MAST4	gene	MAST4	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder MONDO:0700092, MAST4-related				36910266;33057194		False	3	100;0;0	9.382	False		ENSG00000069020	ENSG00000069020	HGNC:19037													
MAT1A	gene	MAT1A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/IIIdeficiency, 250850Methionine adenosyltransferase deficiency, autosomal recessive, 250850;METHIONINE ADENOSYLTRANSFERASE DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000151224	ENSG00000151224	HGNC:6903													
MBD5	gene	MBD5	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental Retardation, Dominant;Autosomal Dominant Mental Retardation syndrome type 1;Mental retardation, autosomal dominant 1, 156200;EHMT1-LIKE INTELLECTUAL DISABILITY						False	3	100;0;0	9.382	False		ENSG00000204406	ENSG00000204406	HGNC:20444													
MBOAT7	gene	MBOAT7	Expert Review Green;Gene2Phenotype;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 57, 617188;Intellectual Disability Accompanied by Epilepsy and Autistic Features;Autosomal recessive non-syndromic intellectual disability				27616480;23097495		False	3	0;0;0	9.382	False		ENSG00000125505	ENSG00000125505	HGNC:15505													
MBTPS2	gene	MBTPS2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	IFAP syndrome with or without BRESHECK syndrome 308205;IFAP syndrome with or without BRESHECK syndrome,308205;Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia				21426410;22105905;24090718;23316014;21179107;19361614		False	3	0;0;100	9.382	False		ENSG00000012174	ENSG00000012174	HGNC:15455													
MCCC1	gene	MCCC1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200;3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000078070	ENSG00000078070	HGNC:6936													
MCCC2	gene	MCCC2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210;3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000131844	ENSG00000131844	HGNC:6937													
MCM3AP	gene	MCM3AP	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124				24123876;28633435;28969388;29982295;32202298		False	3	50;50;0	9.382	False		ENSG00000160294	ENSG00000160294	HGNC:6946													
MCOLN1	gene	MCOLN1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis IV, 252650;MUCOLIPIDOSIS IV						False	3	100;0;0	9.382	False		ENSG00000090674	ENSG00000090674	HGNC:13356													
MCPH1	gene	MCPH1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 1, primary, autosomal recessive, OMIM:251200				30500859;16311745;20978018;7693575;11857108;12046007		False	3	100;0;0	9.382	False		ENSG00000147316	ENSG00000147316	HGNC:6954													
MDH2	gene	MDH2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 51, 617339				27989324		False	3	100;0;0	9.382	False		ENSG00000146701	ENSG00000146701	HGNC:6971													
MECP2	gene	MECP2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Encephalopathy, neonatal severe, OMIM:300673;Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055;Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260;Rett syndrome, OMIM:312750;Rett syndrome, atypical, OMIM:312750;Rett syndrome, preserved speech variant, OMIM:312750						False	3	100;0;0	9.382	False		ENSG00000169057	ENSG00000169057	HGNC:6990													
MED11	gene	MED11	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327				36001086		False	3	100;0;0	9.382	False		ENSG00000161920	ENSG00000161920	HGNC:32687													
MED12	gene	MED12	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Opitz-Kaveggia syndrome, 305450;Lujan-Fryns syndrome, 309520;Ohdo syndrome, X-linked, 300895;OPITZ-KAVEGGIA SYNDROME (OKS)				33244165;34079076;33244166;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000184634	ENSG00000184634	HGNC:11957													
MED12L	gene	MED12L	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nizon-Isidor syndrome, OMIM:618872;Nizon-Isidor syndrome, MONDO:0030030				31155615;36212160;35920825;40957966		False	3	67;33;0	9.382	False		ENSG00000144893	ENSG00000144893	HGNC:16050													
MED13	gene	MED13	Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Delayed speech and language development;Motor delay;Intellectual disability;Autistic behavior;Attention deficit hyperactivity disorder;Abnormality of the eye;Constipation				29740699		False	3	67;33;0	9.382	False		ENSG00000108510	ENSG00000108510	HGNC:22474													
MED13L	gene	MED13L	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789				14638541;23403903;24781760;25167861;25712080;25758992		False	3	100;0;0	9.382	False		ENSG00000123066	ENSG00000123066	HGNC:22962													
MED16	gene	MED16	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Guillouet-Gordon syndrome, OMIM:621220				40081376		False	3	100;0;0	9.382	False		ENSG00000175221	ENSG00000175221	HGNC:17556													
MED17	gene	MED17	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668;MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY						False	3	100;0;0	9.382	False		ENSG00000042429	ENSG00000042429	HGNC:2375													
MED23	gene	MED23	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 18, 614249;MRT18;Intellectual disability				21868677;25845469;25527630;22129135;27311965;21868677;25845469		False	3	33;0;67	9.382	False		ENSG00000112282	ENSG00000112282	HGNC:2372													
MED25	gene	MED25	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Basel-Vanagait-Smirin-Yosef syndrome, 616449;BVSYS;Syndromic intellectual disability;Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome				25792360;25527630;30800049;DOI:10.1159/000501114		False	3	50;50;0	9.382	False		ENSG00000104973	ENSG00000104973	HGNC:28845													
MED27	gene	MED27	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;Axial hypotonia;Spasticity;Dystonia;Cerebellar hypoplasia;Cataracts;Epilepsy				33443317		False	3	100;0;0	9.382	False		ENSG00000160563	ENSG00000160563	HGNC:2377													
MEF2C	gene	MEF2C	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443;MRSME;Chromosome 5q14.3 deletion syndrome, 613443				20513142;19592390;23001426;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000081189	ENSG00000081189	HGNC:6996													
MEIS2	gene	MEIS2	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cleft palate, cardiac defects, and mental retardation, OMIM:600987;Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970				27225850;24678003;25712757;30291340;30055086		False	3	100;0;0	9.382	False		ENSG00000134138	ENSG00000134138	HGNC:7001													
METTL23	gene	METTL23	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 44, 615942				24501276;24626631		False	3	100;0;0	9.382	False		ENSG00000181038	ENSG00000181038	HGNC:26988													
METTL5	gene	METTL5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 72, OMIM:618665				29302074;31564433;https://imgc2019.sciencesconf.org/data/abstract_book_complete.pdf		False	3	100;0;0	9.382	False		ENSG00000138382	ENSG00000138382	HGNC:25006													
MFF	gene	MFF	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086						False	3	100;0;0	9.382	False		ENSG00000168958	ENSG00000168958	HGNC:24858													
MFSD2A	gene	MFSD2A	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486				26005868;26005865;29302074;30043326;32572202		False	3	100;0;0	9.382	False		ENSG00000168389	ENSG00000168389	HGNC:25897													
MFSD8	gene	MFSD8	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS				0		False	3	33;67;0	9.382	False		ENSG00000164073	ENSG00000164073	HGNC:28486													
MGAT2	gene	MGAT2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIa, 212066;CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A (CDG2A)						False	3	100;0;0	9.382	False		ENSG00000168282	ENSG00000168282	HGNC:7045													
MICU1	gene	MICU1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS				24336167		False	3	33;67;0	9.382	False		ENSG00000107745	ENSG00000107745	HGNC:1530													
MID1	gene	MID1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Opitz GBBB syndrome, type I, 300000;OPITZ G/BBB SYNDROME, X-LINKED						False	3	100;0;0	9.382	False		ENSG00000101871	ENSG00000101871	HGNC:7095													
MINPP1	gene	MINPP1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia				33257696;33168985		False	3	100;0;0	9.382	False		ENSG00000107789	ENSG00000107789	HGNC:7102													
MKKS	gene	MKKS	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	McKusick-Kaufman syndrome, 236700Bardet-Biedl syndrome 6, 209900;MCKUSICK-KAUFMAN SYNDROME (MKKS)						False	3	100;0;0	9.382	False		ENSG00000125863	ENSG00000125863	HGNC:7108													
MKS1	gene	MKS1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MECKEL SYNDROME TYPE 1 (MKS1)				17377820;16415886		False	3	33;67;0	9.382	False		ENSG00000011143	ENSG00000011143	HGNC:7121													
MLC1	gene	MLC1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS (MLC)				11254442;11935341;21624973;12189496;14615938		False	3	100;0;0	9.382	False		ENSG00000100427	ENSG00000100427	HGNC:17082													
MLYCD	gene	MLYCD	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Malonyl-CoA decarboxylase deficiency, 248360;MALONYL-COA DECARBOXYLASE DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000103150	ENSG00000103150	HGNC:7150													
MMAA	gene	MMAA	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, vitamin B12-responsive, 251100;METHYLMALONIC ACIDURIA TYPE CBLA						False	3	100;0;0	9.382	False		ENSG00000151611	ENSG00000151611	HGNC:18871													
MMAB	gene	MMAB	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	METHYLMALONIC ACIDURIA TYPE CBLB				12471062		False	3	100;0;0	9.382	False		ENSG00000139428	ENSG00000139428	HGNC:19331													
MMACHC	gene	MMACHC	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblC type, 277400;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE						False	3	100;0;0	9.382	False		ENSG00000132763	ENSG00000132763	HGNC:24525													
MMADHC	gene	MMADHC	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, cblD type, variant 1, 277410Methylmalonic aciduria, cblD type, variant 2, 277410Methylmalonic aciduria and homocystinuria, cblD type, 277410;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD (MMADHC)						False	3	100;0;0	9.382	False		ENSG00000168288	ENSG00000168288	HGNC:25221													
MN1	gene	MN1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CEBALID syndrome, OMIM:618774;CEBALID syndrome, MONDO:0032908				31834374;31839203;15870292		False	3	100;0;0	9.382	False		ENSG00000169184	ENSG00000169184	HGNC:7180													
MOCS1	gene	MOCS1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency, type A, 252150;MOLYBDENUM COFACTOR DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000124615	ENSG00000124615	HGNC:7190													
MOCS2	gene	MOCS2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency, type B, 252150;MOLYBDENUM COFACTOR DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000164172	ENSG00000164172	HGNC:7193													
MOGS	gene	MOGS	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIb, 606056				24716661;20301507		False	3	0;100;0	9.382	False		ENSG00000115275	ENSG00000115275	HGNC:24862													
MORC2	gene	MORC2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090				32693025		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000133422	ENSG00000133422	HGNC:23573													
MPDU1	gene	MPDU1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type If, OMIM:609180						False	3	100;0;0	9.382	False		ENSG00000129255	ENSG00000129255	HGNC:7207													
MPLKIP	gene	MPLKIP	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy, nonphotosensitive 1, 234050;TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1						False	3	100;0;0	9.382	False		ENSG00000168303	ENSG00000168303	HGNC:16002													
MPP5	gene	MPP5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Delayed speech and language development;Developmental regression;Behavioral abnormality				33073849		False	3	100;0;0	9.382	False		ENSG00000072415	ENSG00000072415	HGNC:18669													
MRPL49	gene	MRPL49	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 60, OMIM:621195;combined oxidative phosphorylation deficiency, MONDO:0000732				40043708		False	3	100;0;0	9.382	True		ENSG00000149792	ENSG00000149792	HGNC:1176													
MRPS22	gene	MRPS22	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 5, 611719;COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5						False	3	100;0;0	9.382	False		ENSG00000175110	ENSG00000175110	HGNC:14508													
MRPS34	gene	MRPS34	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidativephosphorylation deficiency 32, 617664				30914295;28777931		False	3	0;0;0	9.382	False		ENSG00000074071	ENSG00000074071	HGNC:16618													
MSL2	gene	MSL2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985				31332282;33057194;38702431;38815585		False	3	75;25;0	9.382	False		ENSG00000174579	ENSG00000174579	HGNC:25544													
MSL3	gene	MSL3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Muscular hypotonia;Feeding difficulties;Neurodevelopmental delay;Intellectual disability;Basilicata-Akhtar syndrome, 301032				26350204;19377476;28135719;25529582;30224647		False	3	50;17;33	9.382	False		ENSG00000005302	ENSG00000005302	HGNC:7370													
MSMO1	gene	MSMO1	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793						False	3	100;0;0	9.382	False		ENSG00000052802	ENSG00000052802	HGNC:10545													
MTFMT	gene	MTFMT	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631				24461907;23499752;22499348		False	3	100;0;0	9.382	False		ENSG00000103707	ENSG00000103707	HGNC:29666													
MTHFR	gene	MTHFR	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY (MTHFRD)				0		False	3	33;67;0	9.382	False		ENSG00000177000	ENSG00000177000	HGNC:7436													
MTHFS	gene	MTHFS	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367				30031689;31844630;22303332;https://doi.org/10.1007/978-3-642-40337-8_10		False	3	100;0;0	9.382	False		ENSG00000136371	ENSG00000136371	HGNC:7437													
MTO1	gene	MTO1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 10, 614702				29331171		False	3	100;0;0	9.382	False		ENSG00000135297	ENSG00000135297	HGNC:19261													
MTOR	gene	MTOR	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Smith-Kingsmore syndrome, 616638;Intellectual Disability;Focal cortical dysplasia, type II, somatic 607341				26542245;27830187;25851998;28892148;https://doi.org/10.4137/jge.s12583;27159400		False	3	50;0;50	9.382	False	Other - please provide details in the comments	ENSG00000198793	ENSG00000198793	HGNC:3942													
MTR	gene	MTR	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634;METHYLCOBALAMIN DEFICIENCY TYPE G (CBLG)						False	3	100;0;0	9.382	False		ENSG00000116984	ENSG00000116984	HGNC:7468													
MTRR	gene	MTRR	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634;HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE						False	3	100;0;0	9.382	False		ENSG00000124275	ENSG00000124275	HGNC:7473													
MTSS1L	gene	MTSS1L	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086				36067766		False	3	100;0;0	9.382	False		ENSG00000132613	ENSG00000132613	HGNC:25094													
MUT	gene	MUT	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, mut(0) type, 251000;METHYLMALONIC ACIDURIA TYPE MUT						False	3	100;0;0	9.382	False		ENSG00000146085	ENSG00000146085	HGNC:7526													
MVK	gene	MVK	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mevalonic aciduria, OMIM:610377				29451047;12563048;10401001		False	3	0;0;100	9.382	False		ENSG00000110921	ENSG00000110921	HGNC:7530													
MYCN	gene	MYCN	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Feingold syndrome 1, OMIM:164280				37710961;30573562;21224895;8470948;16906565;18671284;15821734;18470948		False	3	100;0;0	9.382	False		ENSG00000134323	ENSG00000134323	HGNC:7559													
MYH10	gene	MYH10	Expert Review Green;Gene2Phenotype;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071;MYH10-related Multiple congenital anomalies				25356899;25003005;35980381		False	3	67;0;33	9.382	False		ENSG00000133026	ENSG00000133026	HGNC:7568													
MYO5A	gene	MYO5A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome, type 1, 214450;ELEJALDE SYNDROME (ELEJAS)						False	3	100;0;0	9.382	False		ENSG00000197535	ENSG00000197535	HGNC:7602													
MYT1L	gene	MYT1L	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 39, 616521;MRD39;Intellectual disability;obesity				23033978;25529582;28859103;29293472;28470180;25232846;26240977		False	3	50;0;50	9.382	False		ENSG00000186487	ENSG00000186487	HGNC:7623													
NAA10	gene	NAA10	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N-terminal acetyltransferase deficiency, 300855;NONPECIFIC SEVERE ID						False	3	100;0;0	9.382	False		ENSG00000102030	ENSG00000102030	HGNC:18704													
NAA15	gene	NAA15	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 50, 617787;Intellectual disability				29656860;28191889		False	3	100;0;0	9.382	False		ENSG00000164134	ENSG00000164134	HGNC:30782													
NAA20	gene	NAA20	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 73, OMIM:619717				34230638;37191084;39814713		False	3	67;33;0	9.382	False		ENSG00000173418	ENSG00000173418	HGNC:15908													
NACC1	gene	NACC1	Expert Review Green;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393;profound developmental delay				28132692		False	3	100;0;0	9.382	False		ENSG00000160877	ENSG00000160877	HGNC:20967													
NAGA	gene	NAGA	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241;KANZAKI DISEASE (KANZD)						False	3	100;0;0	9.382	False		ENSG00000198951	ENSG00000198951	HGNC:7631													
NAGLU	gene	NAGLU	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920;MUCOPOLYSACCHARIDOSIS TYPE 3B (MPS3B)						False	3	100;0;0	9.382	False		ENSG00000108784	ENSG00000108784	HGNC:7632													
NALCN	gene	NALCN	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, OMIM:615419						False	3	100;0;0	9.382	False		ENSG00000102452	ENSG00000102452	HGNC:19082													
NANS	gene	NANS	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type  610442 				27213289 		False	3	100;0;0	9.382	False		ENSG00000095380	ENSG00000095380	HGNC:19237													
NAPB	gene	NAPB	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 107, OMIM:620033				28097321;33189936;26235277;21040848		False	3	100;0;0	9.382	False		ENSG00000125814	ENSG00000125814	HGNC:15751													
NARS	gene	NARS	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092				32738225;32788587		False	3	100;0;0	9.382	False		ENSG00000134440	ENSG00000134440	HGNC:7643													
NAV3	gene	NAV3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	recessive neurodevelopmental disorder				38977784;39038237;39708122		False	3	100;0;0	9.382	False		ENSG00000067798	ENSG00000067798	HGNC:15998													
NBEA	gene	NBEA	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Seizures;No OMIM number				30269351;28554332;12746398;12826745;11450821;3377648;23277425;22109531;23153818		False	3	100;0;0	9.382	False		ENSG00000172915	ENSG00000172915	HGNC:7648													
NCDN	gene	NCDN	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability;epilepsy				33711248		False	3	100;0;0	9.382	False		ENSG00000020129	ENSG00000020129	HGNC:17597													
NCKAP1	gene	NCKAP1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;Autism				33157009		False	3	100;0;0	9.382	False		ENSG00000061676	ENSG00000061676	HGNC:7666													
NDE1	gene	NDE1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 4 (with microcephaly), 614019;LISSENCEPHALY 4 (WITH MICROCEPHALY)						False	3	100;0;0	9.382	False		ENSG00000072864	ENSG00000072864	HGNC:17619													
NDP	gene	NDP	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Norrie disease, 310600Exudative vitreoretinopathy, X-linked, 305390;NORRIE DISEASE						False	3	100;0;0	9.382	False		ENSG00000124479	ENSG00000124479	HGNC:7678													
NDST1	gene	NDST1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 46, 616116;MRT46;Intellectual disability				25125150;21937992		False	3	0;0;100	9.382	False	Other - please provide details in the comments	ENSG00000070614	ENSG00000070614	HGNC:7680													
NDUFA1	gene	NDUFA1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mitochondrial complex I deficiency, 252010;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)						False	3	100;0;0	9.382	False		ENSG00000125356	ENSG00000125356	HGNC:7683													
NDUFA2	gene	NDUFA2	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 13, MIM#618235				18513682;28857146		False	3	100;0;0	9.382	False		ENSG00000131495	ENSG00000131495	HGNC:7685													
NDUFS1	gene	NDUFS1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226						False	3	100;0;0	9.382	False		ENSG00000023228	ENSG00000023228	HGNC:7707													
NDUFS4	gene	NDUFS4	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)						False	3	100;0;0	9.382	False		ENSG00000164258	ENSG00000164258	HGNC:7711													
NDUFS7	gene	NDUFS7	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)						False	3	100;0;0	9.382	False		ENSG00000115286	ENSG00000115286	HGNC:7714													
NDUFS8	gene	NDUFS8	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome due to mitochondrial complex I deficiency, 256000;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)						False	3	100;0;0	9.382	False		ENSG00000110717	ENSG00000110717	HGNC:7715													
NDUFV1	gene	NDUFV1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, 252010;MITOCHONDRIAL COMPLEX I DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000167792	ENSG00000167792	HGNC:7716													
NEDD4L	gene	NEDD4L	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Periventricular nodular heterotopia 7, 617201				23934111;27694961		False	3	40;0;60	9.382	False		ENSG00000049759	ENSG00000049759	HGNC:7728													
NEMF	gene	NEMF	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypotonia;Global developmental delay;Intellectual disability;Axonal neuropathy;Ataxia;Abnormal brain imaging;Kyphosis;Scoliosis;Tremor;Respiratory distress				27431290;32934225;33048237		False	3	100;0;0	9.382	False		ENSG00000165525	ENSG00000165525	HGNC:10663													
NEU1	gene	NEU1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550						False	3	100;0;0	9.382	False		ENSG00000204386	ENSG00000204386	HGNC:7758													
NEUROD2	gene	NEUROD2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 72, OMIM:618374				16504944;30323019;33438828		False	3	100;0;0	9.382	False		ENSG00000171532	ENSG00000171532	HGNC:7763													
NEUROG1	gene	NEUROG1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469				23419067;26077850;33439489;36647078		False	3	100;0;0	9.382	False		ENSG00000181965	ENSG00000181965	HGNC:7764													
NEXMIF	gene	NEXMIF	Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked 98, 300912;KIAA2022				27358180;25529582		False	3	100;0;0	9.382	False		ENSG00000050030	ENSG00000050030	HGNC:29433													
NF1	gene	NF1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurofibromatosis, type 1, 162200Leukemia, juvenile myelomonocytic, 607785Melanoma, desmoplastic neurotrophic (2)Neurofibromatosis, familial spinal, 162210Neurofibromatosis-Noonan syndrome, 601321Watson syndrome, 193520;NEUROFIBROMATOSIS-NOONAN SYNDROME (NFNS)				11704931;1745350;9529361;29588991;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000196712	ENSG00000196712	HGNC:7765													
NFASC	gene	NFASC	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356;neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269				28940097;30124836;30850329;31501903		False	3	100;0;0	9.382	False		ENSG00000163531	ENSG00000163531	HGNC:29866													
NFIA	gene	NFIA	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Brain malformations with or without urinary tract defects, 613735;BRMUTD;Intellectual disability;Chromosome 1p32-p31 deletion syndrome, included				24462883;27081522;25714559;22031302;17530927		False	3	0;0;100	9.382	False		ENSG00000162599	ENSG00000162599	HGNC:7784													
NFIX	gene	NFIX	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SOTOS-LIKE SYNDROME				20673863		False	3	100;0;0	9.382	False		ENSG00000008441	ENSG00000008441	HGNC:7788													
NFU1	gene	NFU1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711				22077971;11156534		False	3	33;67;0	9.382	False		ENSG00000169599	ENSG00000169599	HGNC:16287													
NGLY1	gene	NGLY1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG				24651605		False	3	33;67;0	9.382	False		ENSG00000151092	ENSG00000151092	HGNC:17646													
NHLRC2	gene	NHLRC2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	FINCA syndrome, OMIM:618278				37188825;39328589		False	3	100;0;0	9.382	False		ENSG00000196865	ENSG00000196865	HGNC:24731													
NHS	gene	NHS	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Nance-Horan syndrome, 302350Cataract 40, X-linked, 302200;NANCE-HORAN SYNDROME (NHS)						False	3	100;0;0	9.382	False		ENSG00000188158	ENSG00000188158	HGNC:7820													
NIPBL	gene	NIPBL	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 1, 122470;CORNELIA DE LANGE SYNDROME TYPE 1 (CDLS1)						False	3	100;0;0	9.382	False		ENSG00000164190	ENSG00000164190	HGNC:28862													
NKAP	gene	NKAP	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Global developmental delay;Intellectual disability;Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type #301039				26358559;26350204;31587868		False	3	25;0;75	9.382	False		ENSG00000101882	ENSG00000101882	HGNC:29873													
NKX2-1	gene	NKX2-1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Goiter, familial, due to TTF-1 defect (1)Chorea, hereditary benign, 118700Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978;BENIGN HEREDITARY CHOREA						False	3	100;0;0	9.382	False		ENSG00000136352	ENSG00000136352	HGNC:11825													
NLGN3	gene	NLGN3	Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	AUTISM SPECTRUM DISORDERS						False	3	100;0;0	9.382	False		ENSG00000196338	ENSG00000196338	HGNC:14289													
NONO	gene	NONO	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked, syndromic 34, 300967;MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE;MRXSML;Macrocephaly-intellectual disability-left ventricular non compaction syndrome;Syndromic intellectual disability				26571461;27329731;27550220		False	3	100;0;0	9.382	False		ENSG00000147140	ENSG00000147140	HGNC:7871													
NOTCH3	gene	NOTCH3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				39191170		False	3	100;0;0	9.382	False		ENSG00000074181	ENSG00000074181	HGNC:7883													
NOVA2	gene	NOVA2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 618859				32197073		False	3	100;0;0	9.382	False		ENSG00000104967	ENSG00000104967	HGNC:7887													
NPC1	gene	NPC1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	NIEMANN-PICK DISEASE, TYPE C1				10521297;9211849;12554680;11349231;11333381;10480349;11479732;9245994		False	3	33;67;0	9.382	False		ENSG00000141458	ENSG00000141458	HGNC:7897													
NPC2	gene	NPC2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	NIEMANN-PICK DISEASE, TYPE C2				17470133;12447927;11125141;11567215		False	3	33;67;0	9.382	False		ENSG00000119655	ENSG00000119655	HGNC:14537													
NPHP1	gene	NPHP1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583;SENIOR-LOKEN SYNDROME TYPE 1 (SLSN1)						False	3	100;0;0	9.382	False		ENSG00000144061	ENSG00000144061	HGNC:7905													
NR2F1	gene	NR2F1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722				24462372		False	3	33;67;0	9.382	False		ENSG00000175745	ENSG00000175745	HGNC:7975													
NR2F2	gene	NR2F2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart defects, multiple types, 4, 615779 				29663647;37500725		False	3	80;0;20	9.382	False		ENSG00000185551	ENSG00000185551	HGNC:7976													
NR4A2	gene	NR4A2	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911				29770430;30504930;28544326;27569545;23554088;28135719;27479843;25363768;32366965		False	3	100;0;0	9.382	False		ENSG00000153234	ENSG00000153234	HGNC:7981													
NRAS	gene	NRAS	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autoimmune lymphoproliferative syndrome type IV, 614470Noonan syndrome 6, 613224Epidermal nevus, somatic, 162900Thyroid carcinoma, follicular, somatic, 188470Colorectal cancer, somatic, 114500;NOONAN SYNDROME TYPE 6						False	3	100;0;0	9.382	False		ENSG00000213281	ENSG00000213281	HGNC:7989													
NRCAM	gene	NRCAM	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833				35108495		False	3	100;0;0	9.382	False		ENSG00000091129	ENSG00000091129	HGNC:7994													
NRROS	gene	NRROS	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seizures, early-onset, with neurodegeneration and brain calcification 618875				32100099;32197075;28459434		False	3	100;0;0	9.382	False		ENSG00000174004	ENSG00000174004	HGNC:24613													
NRXN1	gene	NRXN1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR);Complex neurodevelopmental disorder (AD)						False	3	67;33;0	9.382	False		ENSG00000179915	ENSG00000179915	HGNC:8008													
NSD1	gene	NSD1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650;WEAVER SYNDROME (WES)						False	3	100;0;0	9.382	False		ENSG00000165671	ENSG00000165671	HGNC:14234													
NSD2	gene	NSD2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rauch-Steindl syndrome, OMIM:619695;Rauch-Steindl syndrome, MONDO:0859219				29892088;29760529;29884796;30244530		False	3	100;0;0	9.382	False		ENSG00000109685	ENSG00000109685	HGNC:12766													
NSDHL	gene	NSDHL	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	CHILD syndrome, 308050CK syndrome, 300831;CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (CHILD)						False	3	100;0;0	9.382	False		ENSG00000147383	ENSG00000147383	HGNC:13398													
NSRP1	gene	NSRP1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	NSRP1-associated developmental delay, epilepsy and microcephaly				34385670		False	3	100;0;0	9.382	False		ENSG00000126653	ENSG00000126653	HGNC:25305													
NSUN2	gene	NSUN2	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental Retardation, Recessive;Mental retardation, autosomal recessive 5, 611091;AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5						False	3	100;0;0	9.382	False		ENSG00000037474	ENSG00000037474	HGNC:25994													
NT5C2	gene	NT5C2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 45, autosomal recessive, 613162;Intellectual disability				20301682;24482476;19415352		False	3	100;0;0	9.382	False		ENSG00000076685	ENSG00000076685	HGNC:8022													
NTNG2	gene	NTNG2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, OMIM:618718				31372774;31668703		False	3	100;0;0	9.382	False		ENSG00000196358	ENSG00000196358	HGNC:14288													
NTRK1	gene	NTRK1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Insensitivity to pain, congenital, with anhidrosis, 256800				8696348; 11071380;10090906;10330344		False	3	50;0;50	9.382	False		ENSG00000198400	ENSG00000198400	HGNC:8031													
NTRK2	gene	NTRK2	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 58, 617830;Obesity, hyperphagia, and developmental delay, 613886				29100083;28135719;15494731;27884935		False	3	100;0;0	9.382	False		ENSG00000148053	ENSG00000148053	HGNC:8032													
NUBPL	gene	NUBPL	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 21, OMIM:618242				0		False	3	33;67;0	9.382	False		ENSG00000151413	ENSG00000151413	HGNC:20278													
NUDT2	gene	NUDT2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular hypotonia;Global developmental delay;Intellectual disability;Polyneuropathy;no OMIM number				27431290;30059600;33058507		False	3	50;50;0	9.382	False		ENSG00000164978	ENSG00000164978	HGNC:8049													
NUP214	gene	NUP214	Expert list;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	developmental delay;intellectual disability;epileptic encephalopathy;developmental regression;microcephaly;{Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426				31178128;30758658;29483668		False	3	67;33;0	9.382	False		ENSG00000126883	ENSG00000126883	HGNC:8064													
NUS1	gene	NUS1	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Mental retardation, autosomal dominant 55, with seizures, OMIM:617831;Congenital disorder of glycosylation, type 1aa, OMIM:617082				25066056;29100083;24824130;30348779		False	3	100;0;0	9.382	False		ENSG00000153989	ENSG00000153989	HGNC:21042													
OCLN	gene	OCLN	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay);Band-like calcification with simplified gyration and polymicrogyria				20727516		False	3	0;0;100	9.382	False		ENSG00000197822	ENSG00000197822	HGNC:8104													
OCRL	gene	OCRL	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lowe syndrome, 309000Dent disease 2, 300555;LOWE OCULOCEREBRORENAL SYNDROME (OCRL)				25529582;24896178;15627218;33517444		False	3	100;0;0	9.382	False		ENSG00000122126	ENSG00000122126	HGNC:8108													
ODC1	gene	ODC1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bachmann-Bupp syndrome, OMIM:619075				30239107;30475435		False	3	100;0;0	9.382	False		ENSG00000115758	ENSG00000115758	HGNC:8109													
OFD1	gene	OFD1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Oral-facial-digital syndrome 1, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209Joubert syndrome 10, 300804;ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 (OFD1)						False	3	100;0;0	9.382	False		ENSG00000046651	ENSG00000046651	HGNC:2567													
OGDHL	gene	OGDHL	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Yoon-Bellen neurodevelopmental syndrome, OMIM:619701				28017472;34800363		False	3	100;0;0	9.382	False		ENSG00000197444	ENSG00000197444	HGNC:25590													
OGT	gene	OGT	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked 106, 300997				25679214;28302723;28584052		False	3	0;0;100	9.382	False		ENSG00000147162	ENSG00000147162	HGNC:8127													
OPA1	gene	OPA1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Optic atrophy plus syndrome, OMIM: 125250				39233737		False	3	100;0;0	9.382	False		ENSG00000198836	ENSG00000198836	HGNC:8140													
OPA3	gene	OPA3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type III, 258501;Costeff syndrome; Cognitive regression				25201222; 11668429;24944951;25657044;20301646		False	3	50;50;0	9.382	False		ENSG00000125741	ENSG00000125741	HGNC:8142													
OPHN1	gene	OPHN1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486;MENTAL RETARDATION X-LINKED OPHN1-RELATED (MRXSO)						False	3	100;0;0	9.382	False		ENSG00000079482	ENSG00000079482	HGNC:8148													
OSGEP	gene	OSGEP	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 3, 617729;Intellectual disability				28805828		False	3	100;0;0	9.382	True		ENSG00000092094	ENSG00000092094	HGNC:18028													
OTC	gene	OTC	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	CGD Ornithine transcarbamylase deficiency, 311250;ORNITHINE TRANSCARBAMYLASE DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000036473	ENSG00000036473	HGNC:8512													
OTUD5	gene	OTUD5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056				33131077;33523931		False	3	100;0;0	9.382	False		ENSG00000068308	ENSG00000068308	HGNC:25402													
OTUD6B	gene	OTUD6B	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452				28343629		False	3	100;0;0	9.382	False		ENSG00000155100	ENSG00000155100	HGNC:24281													
OTUD7A	gene	OTUD7A	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	developmental and epileptic encephalopathy, MONDO:0100062;intellectual disability, MONDO:0001071				31997314;29395075;29395074;33381903;36180924		False	3	75;0;25	9.382	False		ENSG00000169918	ENSG00000169918	HGNC:20718													
OTX2	gene	OTX2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5)				19956411;18628516;20396904;19965921;18854396;15846561		False	3	33;67;0	9.382	False		ENSG00000165588	ENSG00000165588	HGNC:8522													
OXR1	gene	OXR1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000				31785787;22028674		False	3	100;0;0	9.382	False		ENSG00000164830	ENSG00000164830	HGNC:15822													
P4HTM	gene	P4HTM	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Abnormality of the eye;Seizures;Dysautonomia;Central hypotonia;Muscular hypotonia;Hypoventilation;Intellectual disability;Sleep apnea;Global developmental delay;Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia				30940925;25078763		False	3	100;0;0	9.382	False		ENSG00000178467	ENSG00000178467	HGNC:28858													
PABPC1	gene	PABPC1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Global developmental delay;Expressive language delay;Intellectual disability;Behavioral abnormality;Seizures				35511136		False	3	50;25;25	9.382	False		ENSG00000070756	ENSG00000070756	HGNC:8554													
PACS1	gene	PACS1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 17, 615009;INTELLECTUAL DISABILITY						False	3	100;0;0	9.382	False		ENSG00000175115	ENSG00000175115	HGNC:30032													
PACS2	gene	PACS2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 66, 618067;Global developmental delay;Intellectual disability;Seizures;Abnormality of the cerebellum				29656858;22488736;28867141		False	3	100;0;0	9.382	True		ENSG00000179364	ENSG00000179364	HGNC:23794													
PAFAH1B1	gene	PAFAH1B1	Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lissencephaly 1, OMIM:607432;Subcortical laminar heterotopia, OMIM:607432						False	3	100;0;0	9.382	False		ENSG00000007168	ENSG00000007168	HGNC:8574													
PAH	gene	PAH	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600;NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA (NON-PKU HPA)						False	3	100;0;0	9.382	False		ENSG00000171759	ENSG00000171759	HGNC:8582													
PAK1	gene	PAK1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158				30290153;31504246		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000149269	ENSG00000149269	HGNC:8590													
PAK3	gene	PAK3	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 30/47, 300558;Mental Retardation, X-linked;AGENESIS OF THE CORPUS CALLOSUM						False	3	100;0;0	9.382	False		ENSG00000077264	ENSG00000077264	HGNC:8592													
PAN2	gene	PAN2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384				29620724;35304602		False	3	67;33;0	9.382	False		ENSG00000135473	ENSG00000135473	HGNC:20074													
PARN	gene	PARN	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 6, OMIM:616353				25529582;25893599;26342108		False	3	100;0;0	9.382	False		ENSG00000140694	ENSG00000140694	HGNC:8609													
PAX8	gene	PAX8	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700;CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 (CHNG2)						False	3	100;0;0	9.382	False		ENSG00000125618	ENSG00000125618	HGNC:8622													
PBX1	gene	PBX1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay				28566479;29036646;28270404		False	3	100;0;0	9.382	False		ENSG00000185630	ENSG00000185630	HGNC:8632													
PC	gene	PC	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pyruvate carboxylase deficiency, OMIM:266150						False	3	100;0;0	9.382	False		ENSG00000173599	ENSG00000173599	HGNC:8636													
PCCA	gene	PCCA	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PROPIONIC ACIDEMIA				10820128;8295402;8411997;17966092;9887338;12189489;9683601;9385377;10101253;8225321		False	3	33;67;0	9.382	False		ENSG00000175198	ENSG00000175198	HGNC:8653													
PCCB	gene	PCCB	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PROPIONIC ACIDEMIA				0		False	3	33;67;0	9.382	False		ENSG00000114054	ENSG00000114054	HGNC:8654													
PCDH12	gene	PCDH12	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	intellectual disability;microcephaly;epilepsy;perithalamic hyperechogenicity;periventricular hyperechogenicity;midbrain abnormalities;hypothalamic abnormalities;Microcephaly, seizures, spasticity, and brain calcification, 251280				27164683;28804758;29556033;30178464;30459466;18477666		False	3	0;0;100	9.382	False		ENSG00000113555	ENSG00000113555	HGNC:8657													
PCDH19	gene	PCDH19	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Epileptic encephalopathy, early infantile, 9, 300088;EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 (EIEE9)				18469813;5116697;19752159;19214208;25529582;24896178,  28669061;28462982		False	3	100;0;0	9.382	False		ENSG00000165194	ENSG00000165194	HGNC:14270													
PCDHGC4	gene	PCDHGC4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880				34244665		False	3	100;0;0	9.382	False		ENSG00000242419	ENSG00000242419	HGNC:8717													
PCGF2	gene	PCGF2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;dysmorphic features;Global developmental delay;Abnormality of the cardiovascular system;Abnormality of the cerebrum;Abnormality of the skeletal system				25529582;25533962;30343942		False	3	80;0;20	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000056661	ENSG00000277258	HGNC:12929													
PCNT	gene	PCNT	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720						False	3	100;0;0	9.382	False		ENSG00000160299	ENSG00000160299	HGNC:16068													
PCYT2	gene	PCYT2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 82, autosomal recessive, 618770;Global developmental delay;Developmental regression;Intellectual disability;Spastic paraparesis;Seizures;Spastic tetraparesis;Cerebral atrophy;Cerebellar atrophy				31637422		False	3	100;0;0	9.382	False		ENSG00000185813	ENSG00000185813	HGNC:8756													
PDE4D	gene	PDE4D	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acrodysostosis 2, with or without hormone resistance, 614613;Acrodysostosis Orphanet:950						False	3	100;0;0	9.382	False	Other - please provide details in the comments 	ENSG00000113448	ENSG00000113448	HGNC:8783													
PDGFRB	gene	PDGFRB	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kosaki overgrowth syndrome, 616592;Intellectual disability				23731537;25454926;25454926;29226947;28639748		False	3	60;40;0	9.382	False		ENSG00000113721	ENSG00000113721	HGNC:8804													
PDHA1	gene	PDHA1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Pyruvate dehydrogenase E1-alpha deficiency, 312170Leigh syndrome, X-linked, 308930;PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES						False	3	100;0;0	9.382	False		ENSG00000131828	ENSG00000131828	HGNC:8806													
PDHB	gene	PDHB	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111				15138885;26014431;18164639;19924563		False	3	100;0;0	9.382	False		ENSG00000168291	ENSG00000168291	HGNC:8808													
PDHX	gene	PDHX	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lacticacidemia due to PDX1 deficiency, OMIM:245349						False	3	100;0;0	9.382	False		ENSG00000110435	ENSG00000110435	HGNC:21350													
PDSS1	gene	PDSS1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 2, 614651;COENZYME Q10 DEFICIENCY, PRIMARY, 2						False	3	100;0;0	9.382	False		ENSG00000148459	ENSG00000148459	HGNC:17759													
PDSS2	gene	PDSS2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 3, 614652;COENZYME Q10 DEFICIENCY, PRIMARY, 3						False	3	100;0;0	9.382	False		ENSG00000164494	ENSG00000164494	HGNC:23041													
PDZD8	gene	PDZD8	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability;Autistic behavior;Behavioral abnormality;Myopathy;Abnormality of the face;Hypertelorism;Seizures;Disproportionate tall stature				35227461		False	3	67;33;0	9.382	False		ENSG00000165650	ENSG00000165650	HGNC:26974													
PEPD	gene	PEPD	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Prolidase deficiency, 170100;PROLIDASE DEFICIENCY (PD)				1972707;6637477;2365824;16470701;8900231;15309682;17142620;19308961		False	3	100;0;0	9.382	False		ENSG00000124299	ENSG00000124299	HGNC:8840													
PET100	gene	PET100	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;Complex IV-deficient Leigh syndrome;Mitochondrial complex IV deficiency, nuclear type 12 OMIM:619055				26425749;24462369;25293719;31406627		False	3	50;50;0	9.382	False		ENSG00000229833	ENSG00000229833	HGNC:40038													
PEX1	gene	PEX1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 (PBD-CG1)						False	3	100;0;0	9.382	False		ENSG00000127980	ENSG00000127980	HGNC:8850													
PEX10	gene	PEX10	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871;ADRENOLEUKODYSTROPHY NEONATAL (NALD)						False	3	100;0;0	9.382	False		ENSG00000157911	ENSG00000157911	HGNC:8851													
PEX11B	gene	PEX11B	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 14B, 614920;Intellectual disability				22581968;28129423		False	3	33;0;67	9.382	False		ENSG00000131779	ENSG00000131779	HGNC:8853													
PEX12	gene	PEX12	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 3A (Zellweger), 614859Peroxisome biogenesis disorder 3B, 266510;ZELLWEGER SYNDROME (ZWS)						False	3	100;0;0	9.382	False		ENSG00000108733	ENSG00000108733	HGNC:8854													
PEX13	gene	PEX13	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 11A (Zellweger), 614883Peroxisome biogenesis disorder 11B, 614885;ADRENOLEUKODYSTROPHY NEONATAL (NALD)						False	3	100;0;0	9.382	False		ENSG00000162928	ENSG00000162928	HGNC:8855													
PEX14	gene	PEX14	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	ZELLWEGER SYNDROME (ZWS)				0		False	3	33;67;0	9.382	False		ENSG00000142655	ENSG00000142655	HGNC:8856													
PEX16	gene	PEX16	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9)						False	3	100;0;0	9.382	False		ENSG00000121680	ENSG00000121680	HGNC:8857													
PEX19	gene	PEX19	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 12A (Zellweger), 614886;ZELLWEGER SYNDROME (ZWS)						False	3	100;0;0	9.382	False		ENSG00000162735	ENSG00000162735	HGNC:9713													
PEX2	gene	PEX2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 5A (Zellweger), 614866Peroxisome biogenesis disorder 5B, 614867;ZELLWEGER SYNDROME (ZWS)						False	3	100;0;0	9.382	False		ENSG00000164751	ENSG00000164751	HGNC:9717													
PEX26	gene	PEX26	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 7A (Zellweger), 614872Peroxisome biogenesis disorder 7B, 614873;INFANTILE REFSUM DISEASE (IRD)						False	3	100;0;0	9.382	False		ENSG00000215193	ENSG00000215193	HGNC:22965													
PEX3	gene	PEX3	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 10A (Zellweger), 614882;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 (PBD-CG12)						False	3	100;0;0	9.382	False		ENSG00000034693	ENSG00000034693	HGNC:8858													
PEX5	gene	PEX5	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 2A (Zellweger), 214110Peroxisome biogenesis disorder 2B, 202370;ADRENOLEUKODYSTROPHY NEONATAL (NALD)						False	3	100;0;0	9.382	False		ENSG00000139197	ENSG00000139197	HGNC:9719													
PEX6	gene	PEX6	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863				25529582;29220678		False	3	100;0;0	9.382	False		ENSG00000124587	ENSG00000124587	HGNC:8859													
PEX7	gene	PEX7	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 1, 215100;Peroxisome biogenesis disorder 9B, 614879;REFSUM DISEASE (RD)						False	3	100;0;0	9.382	False		ENSG00000112357	ENSG00000112357	HGNC:8860													
PGAP1	gene	PGAP1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 42, 615802				27206732;26350515; 25804403;24784135;24482476; 25823418;26050939		False	3	100;0;0	9.382	False		ENSG00000197121	ENSG00000197121	HGNC:25712													
PGAP2	gene	PGAP2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 3, 614207;INTELLECTUAL DISABILITY						False	3	100;0;0	9.382	False		ENSG00000148985	ENSG00000148985	HGNC:17893													
PGAP3	gene	PGAP3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4				24439110		False	3	100;0;0	9.382	False		ENSG00000161395	ENSG00000161395	HGNC:23719													
PGK1	gene	PGK1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phosphoglycerate kinase 1 deficiency, 300653;PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (PGK1D)						False	3	100;0;0	9.382	False		ENSG00000102144	ENSG00000102144	HGNC:8896													
PGM2L1	gene	PGM2L1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191				33979636		False	3	100;0;0	9.382	False		ENSG00000165434	ENSG00000165434	HGNC:20898													
PGM3	gene	PGM3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 23, 615816;Intellectual disability;Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination				24589341;24698316;24931394;25529582		False	3	100;0;0	9.382	False		ENSG00000013375	ENSG00000013375	HGNC:8907													
PHACTR1	gene	PHACTR1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 70, OMIM:618298				30256902;28135719;23033978;27457812		False	3	25;0;75	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000112137	ENSG00000112137	HGNC:20990													
PHF21A	gene	PHF21A	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Potocki-Shaffer syndrome, 601224;PSS;Intellectual disability;Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725				22770980;26333423;8456828;8882796;14872200;9489802;11017806;11903336;15852040;23239541;28127865;30487643		False	3	50;50;0	9.382	False		ENSG00000135365	ENSG00000135365	HGNC:24156													
PHF6	gene	PHF6	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Borjeson-Forssman-Lehmann syndrome, OMIM:301900				15466013;15994862;12415272;25529582;24896178;24092917;25099957		False	3	100;0;0	9.382	False		ENSG00000156531	ENSG00000156531	HGNC:18145													
PHF8	gene	PHF8	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation syndrome, X-linked, Siderius type, 300263;MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE (MRXSSD)						False	3	100;0;0	9.382	False		ENSG00000172943	ENSG00000172943	HGNC:20672													
PHGDH	gene	PHGDH	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Phosphoglycerate dehydrogenase deficiency, 601815;NEU-LAXOVA SYNDROME; NLS						False	3	100;0;0	9.382	False		ENSG00000092621	ENSG00000092621	HGNC:8923													
PHIP	gene	PHIP	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	INTELLECTUAL DISABILITY;Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991				29209020;23033978;27900362		False	3	33;0;67	9.382	False		ENSG00000146247	ENSG00000146247	HGNC:15673													
PI4K2A	gene	PI4K2A	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732				30564627;32418222;35880319		False	3	100;0;0	9.382	False		ENSG00000155252	ENSG00000155252	HGNC:30031													
PI4KA	gene	PI4KA	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531				25855803;34415322;34415310		False	3	100;0;0	9.382	False		ENSG00000241973	ENSG00000241973	HGNC:8983													
PIBF1	gene	PIBF1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 33;OMIM #617767				26167768;30858804;29695797		False	3	100;0;0	9.382	False		ENSG00000083535	ENSG00000083535	HGNC:23352													
PIDD1	gene	PIDD1	Expert Review Green;Literature;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability;Seizures;Autism;Behavioral abnormality;Psychosis;Pachygyria;Lissencephaly;Abnormality of the corpus callosum				28397838;29302074;33414379;34163010		False	3	100;0;0	9.382	False		ENSG00000177595	ENSG00000177595	HGNC:16491													
PIGA	gene	PIGA	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2				22305531		False	3	33;67;0	9.382	False		ENSG00000165195	ENSG00000165195	HGNC:8957													
PIGB	gene	PIGB	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 80, OMIM:618580				31256876		False	3	100;0;0	9.382	False		ENSG00000069943	ENSG00000069943	HGNC:8959													
PIGC	gene	PIGC	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816				27694521;32707268		False	3	50;50;0	9.382	False		ENSG00000135845	ENSG00000135845	HGNC:8960													
PIGG	gene	PIGG	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917				28581210;26996948;30914295		False	3	100;0;0	9.382	False		ENSG00000174227	ENSG00000174227	HGNC:25985													
PIGH	gene	PIGH	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glycosylphosphatidylinositol biosynthesis defect, 17 OMIM:618010;Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures				29603516;29573052;29603510		False	3	100;0;0	9.382	False		ENSG00000100564	ENSG00000100564	HGNC:8964													
PIGK	gene	PIGK	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879				32220290		False	3	100;0;0	9.382	False		ENSG00000142892	ENSG00000142892	HGNC:8965													
PIGL	gene	PIGL	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome;ZUNICH NEUROECTODERMAL SYNDROME						False	3	100;0;0	9.382	False		ENSG00000108474	ENSG00000108474	HGNC:8966													
PIGN	gene	PIGN	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080;MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME						False	3	100;0;0	9.382	False		ENSG00000197563	ENSG00000197563	HGNC:8967													
PIGO	gene	PIGO	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 2, 614749;Hyperphosphatasia with Mental Retardation Syndrome;HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2						False	3	100;0;0	9.382	False		ENSG00000165282	ENSG00000165282	HGNC:23215													
PIGP	gene	PIGP	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 55, OMIM:617599				28334793;31139695;32042915		False	3	100;0;0	9.382	False		ENSG00000185808	ENSG00000185808	HGNC:3046													
PIGQ	gene	PIGQ	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548				32588908;24463883;25558065;31148362		False	3	40;0;60	9.382	False		ENSG00000007541	ENSG00000007541	HGNC:14135													
PIGS	gene	PIGS	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glycosylphosphatidylinositol biosynthesis defect 18 618143				30269814		False	3	100;0;0	9.382	False		ENSG00000087111	ENSG00000087111	HGNC:14937													
PIGT	gene	PIGT	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398"				24906948;28327575		False	3	33;67;0	9.382	False		ENSG00000124155	ENSG00000124155	HGNC:14938													
PIGU	gene	PIGU	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590				31353022		False	3	100;0;0	9.382	False		ENSG00000101464	ENSG00000101464	HGNC:15791													
PIGV	gene	PIGV	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 1, 239300;Hyperphosphatasia with Mental Retardation Syndrome;HYPERPHOSPHATASIA WITH MENTAL RETARDATION (HPMR)						False	3	100;0;0	9.382	False		ENSG00000060642	ENSG00000060642	HGNC:26031													
PIGW	gene	PIGW	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glycosylphosphatidylinositol biosynthesis defect 11, 616025				24367057;27626616;27626616;30078644		False	3	100;0;0	9.382	False		ENSG00000184886	ENSG00000277161	HGNC:23213													
PIK3CA	gene	PIK3CA	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501;Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040						False	3	100;0;0	9.382	False	Other - please provide details in the comments 	ENSG00000121879	ENSG00000121879	HGNC:8975													
PIK3R2	gene	PIK3R2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387						False	3	100;0;0	9.382	False		ENSG00000105647	ENSG00000105647	HGNC:8980													
PIP5K1C	gene	PIP5K1C	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				37451268		False	3	100;0;0	9.382	False		ENSG00000186111	ENSG00000186111	HGNC:8996													
PITRM1	gene	PITRM1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405				26697887;29764912;29383861		False	3	100;0;0	9.382	False		ENSG00000107959	ENSG00000107959	HGNC:17663													
PLA2G6	gene	PLA2G6	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953;NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B						False	3	100;0;0	9.382	False		ENSG00000184381	ENSG00000184381	HGNC:9039													
PLAA	gene	PLAA	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527;NDMSBA;Epileptic Encephalopathy				28413018;28007986		False	3	100;0;0	9.382	False		ENSG00000137055	ENSG00000137055	HGNC:9043													
PLCB1	gene	PLCB1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 12, 613722;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12						False	3	100;0;0	9.382	False		ENSG00000182621	ENSG00000182621	HGNC:15917													
PLEKHG2	gene	PLEKHG2	Expert Review;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy and acquired microcephaly with or without dystonia, OMIM:616763;leukodystrophy and acquired microcephaly with or without dystonia;MONDO:0014766				26539891;24001768;26573021;34326120;35203342		False	3	33;67;0	9.382	False		ENSG00000090924	ENSG00000090924	HGNC:29515													
PLK1	gene	PLK1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epilepsy;microcephaly;intellectual disability				33875846		False	3	100;0;0	9.382	False		ENSG00000166851	ENSG00000166851	HGNC:9077													
PLK4	gene	PLK4	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY				25344692		False	3	33;67;0	9.382	False		ENSG00000142731	ENSG00000142731	HGNC:11397													
PLP1	gene	PLP1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pelizaeus-Merzbacher disease, 312080Spastic paraplegia 2, X-linked, 312920;LEUKODYSTROPHY HYPOMYELINATING TYPE 1 (HLD1)						False	3	100;0;0	9.382	False		ENSG00000123560	ENSG00000123560	HGNC:9086													
PLPBP	gene	PLPBP	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, early-onset, vitamin B6-dependent, 617290				27912044		False	3	0;100;0	9.382	False		ENSG00000147471	ENSG00000147471	HGNC:9457													
PLXNA1	gene	PLXNA1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955;developmental and epileptic encephalopathy, MONDO:0100062				28464511;34054129;34415653		False	3	100;0;0	9.382	False		ENSG00000114554	ENSG00000114554	HGNC:9099													
PLXNB2	gene	PLXNB2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	amelogenesis imperfecta, MONDO:0019507;sensorineural hearing loss disorder, MONDO:0020678;intellectual disability, MONDO:0001071				38458752		False	3	100;0;0	9.382	False		ENSG00000196576	ENSG00000196576	HGNC:9104													
PMM2	gene	PMM2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ia, 212065;CONGENITAL DISORDERS OF GLYCOSYLATION						False	3	100;0;0	9.382	False		ENSG00000140650	ENSG00000140650	HGNC:9115													
PMPCB	gene	PMPCB	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785				29576218		False	3	100;0;0	9.382	False		ENSG00000105819	ENSG00000105819	HGNC:9119													
PNKP	gene	PNKP	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 10, 613402;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10						False	3	100;0;0	9.382	False		ENSG00000039650	ENSG00000039650	HGNC:9154													
PNPLA6	gene	PNPLA6	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Boucher-Neuhauser syndrome, 215470;Oliver-McFarlane syndrome, 275400;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome				24355708;25033069; 25299038; 25480986;23733235		False	3	50;50;0	9.382	False		ENSG00000032444	ENSG00000032444	HGNC:16268													
PNPLA8	gene	PNPLA8	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial myopathy with lactic acidosis, OMIM:251950;mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825				39082157		False	3	100;0;0	9.382	False		ENSG00000135241	ENSG00000135241	HGNC:28900													
PNPT1	gene	PNPT1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 13, OMIM:614932;Combined oxidative phosphorylation defect type 13, MONDO:0013977				31752325		False	3	100;0;0	9.382	False		ENSG00000138035	ENSG00000138035	HGNC:23166													
POGZ	gene	POGZ	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	White-Sutton syndrome, OMIM:616364				25533962;26739615;26763879;26942287		False	3	100;0;0	9.382	False		ENSG00000143442	ENSG00000143442	HGNC:18801													
POLA1	gene	POLA1	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220;XLPDR;X-Linked Intellectual Disability associated with short stature, microcephaly, and hypogonadism				15844784;27019227;19377476;31006512		False	3	25;0;75	9.382	False		ENSG00000101868	ENSG00000101868	HGNC:9173													
POLG	gene	POLG	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)				0		False	3	33;67;0	9.382	False		ENSG00000140521	ENSG00000140521	HGNC:9179													
POLR1C	gene	POLR1C	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 11, OMIM:616494				26151409;32042905		False	3	100;0;0	9.382	False		ENSG00000171453	ENSG00000171453	HGNC:20194													
POLR2A	gene	POLR2A	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603;Global developmental delay;Generalized hypotonia;Feeding difficulties				31353023		False	3	100;0;0	9.382	False		ENSG00000181222	ENSG00000181222	HGNC:9187													
POLR3A	gene	POLR3A	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropichypogonadism, 607694;LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM						False	3	100;0;0	9.382	False		ENSG00000148606	ENSG00000148606	HGNC:30074													
POLR3B	gene	POLR3B	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381;POLR3B-related neurodevelopmental disorder;Ataxia, spasticity, and demyelinating neuropathy				22036171;22036172;24190003;25339210;26204956;27159321;32319736;33417887		False	3	100;0;0	9.382	False		ENSG00000013503	ENSG00000013503	HGNC:30348													
POLRMT	gene	POLRMT	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 55, OMIM:619743;combined oxidative phosphorylation deficiency 55, MONDO:0859228				24386581;33602924;40583167		False	3	75;25;0	9.382	False		ENSG00000099821	ENSG00000099821	HGNC:9200													
POMGNT1	gene	POMGNT1	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 (MDDGB3)						False	3	100;0;0	9.382	False		ENSG00000085998	ENSG00000085998	HGNC:19139													
POMGNT2	gene	POMGNT2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal					22958903		False	3	33;67;0	9.382	False		ENSG00000144647	ENSG00000144647	HGNC:25902													
POMT1	gene	POMT1	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 (MDDGA1)						False	3	100;0;0	9.382	False		ENSG00000130714	ENSG00000130714	HGNC:9202													
POMT2	gene	POMT2	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 (MDDGB2)						False	3	100;0;0	9.382	False		ENSG00000009830	ENSG00000009830	HGNC:19743													
PORCN	gene	PORCN	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Focal dermal hypoplasia, 305600;FOCAL DERMAL HYPOPLASIA (FODH)						False	3	100;0;0	9.382	False		ENSG00000102312	ENSG00000102312	HGNC:17652													
POU3F2	gene	POU3F2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	neurodevelopmental delay with hyperphagic obesity				37207645		False	3	100;0;0	9.382	False		ENSG00000184486	ENSG00000184486	HGNC:9215													
POU3F3	gene	POU3F3	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Snijders Blok-Fisher syndrome, 618604;Generalized hypotonia;Delayed speech and language development;Global developmental delay;Intellectual disability;Autistic behavior				31303265;24550763		False	3	100;0;0	9.382	False		ENSG00000198914	ENSG00000198914	HGNC:9216													
PPFIBP1	gene	PPFIBP1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024				35830857;30214071		False	3	100;0;0	9.382	False		ENSG00000110841	ENSG00000110841	HGNC:9249													
PPIL1	gene	PPIL1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly				33220177		False	3	100;0;0	9.382	False		ENSG00000137168	ENSG00000137168	HGNC:9260													
PPM1D	gene	PPM1D	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450;IDDGIP				28343630;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000170836	ENSG00000170836	HGNC:9277													
PPOX	gene	PPOX	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, MONDO:0008297				8290408;9811936;2004012;35164799;37879139;40114189;33159949		False	3	50;0;50	9.382	False		ENSG00000143224	ENSG00000143224	HGNC:9280													
PPP1CB	gene	PPP1CB	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome-like disorder with loose anagen hair 2 617506				25529582;27868344;27264673;28211982		False	3	100;0;0	9.382	False		ENSG00000213639	ENSG00000213639	HGNC:9282													
PPP1R12A	gene	PPP1R12A	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Genitourinary and/or/brain malformation syndrome, 618820				31883643		False	3	100;0;0	9.382	False		ENSG00000058272	ENSG00000058272	HGNC:7618													
PPP1R15B	gene	PPP1R15B	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, short stature, and impaired glucose metabolism 2, 616817				26159176;26307080;27640355		False	3	100;0;0	9.382	False		ENSG00000158615	ENSG00000158615	HGNC:14951													
PPP1R21	gene	PPP1R21	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383				29808498;28940097;30520571		False	3	100;0;0	9.382	False		ENSG00000162869	ENSG00000162869	HGNC:30595													
PPP1R3F	gene	PPP1R3F	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				37531237		False	3	100;0;0	9.382	False		ENSG00000049769	ENSG00000049769	HGNC:14944													
PPP2CA	gene	PPP2CA	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Abnormality of nervous system morphology;Seizures;Language impairment;Muscular hypotonia;Feeding difficulties;Intellectual disability;Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354;Global developmental delay				29274472;30030003;30595372		False	3	100;0;0	9.382	False		ENSG00000113575	ENSG00000113575	HGNC:9299													
PPP2R1A	gene	PPP2R1A	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Houge-Janssens syndrome 2, OMIM:616362;Houge-Janssens syndrome 2, MONDO:0014605				25533962;33106617		False	3	100;0;0	9.382	False		ENSG00000105568	ENSG00000105568	HGNC:9302													
PPP2R2B	gene	PPP2R2B	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental syndrome				39565297;25356899		False	3	75;0;25	9.382	False		ENSG00000156475	ENSG00000156475	HGNC:9305													
PPP2R5C	gene	PPP2R5C	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Houge-Janssens syndrome 4, OMIM:621185				25972378;39696819;39978342		False	3	100;0;0	9.382	False		ENSG00000078304	ENSG00000078304	HGNC:9311													
PPP2R5D	gene	PPP2R5D	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	INTELLECTUAL DISABILITY				25533962		False	3	100;0;0	9.382	False		ENSG00000112640	ENSG00000112640	HGNC:9312													
PPP3CA	gene	PPP3CA	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, infantile or early childhood, 1, 617711				28942967		False	3	100;0;0	9.382	False		ENSG00000138814	ENSG00000138814	HGNC:9314													
PPT1	gene	PPT1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 1, 256730;NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 (CLN1)						False	3	100;0;0	9.382	False		ENSG00000131238	ENSG00000131238	HGNC:9325													
PQBP1	gene	PQBP1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Renpenning syndrome, 309500;RENPENNING S(YNDROME 1 (RENS1)						False	3	100;0;0	9.382	False		ENSG00000102103	ENSG00000102103	HGNC:9330													
PRDM13	gene	PRDM13	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	congenital hypogonadotropic hypogonadism, MONDO:0015770;Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761				34730112;35390279		False	3	67;33;0	9.382	False		ENSG00000112238	ENSG00000112238	HGNC:13998													
PRICKLE2	gene	PRICKLE2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder;global developmental delay				34092786		False	3	67;0;33	9.382	False		ENSG00000163637	ENSG00000163637	HGNC:20340													
PRKAR1B	gene	PRKAR1B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680				25414040;33833410		False	3	75;25;0	9.382	False		ENSG00000188191	ENSG00000188191	HGNC:9390													
PRMT7	gene	PRMT7	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Short stature, brachydactyly, intellectual developmental disability, and seizures	617157"						False	3	100;0;0	9.382	False		ENSG00000132600	ENSG00000132600	HGNC:25557													
PRPF8	gene	PRPF8	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	PRPF8-related developmental disorder (monoallelic);Retinitis pigmentosa 13, OMIM:600059				20811066;23714367;30420816;31696658;35543142		False	3	67;33;0	9.382	False		ENSG00000174231	ENSG00000174231	HGNC:17340													
PRPS1	gene	PRPS1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070;Arts syndrome, 301835;Deafness, X-linked 1, 304500;CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 (CMTX5);Gout, PRPS-related, 300661;Phosphoribosylpyrophosphate synthetase superactivity, 300661				25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000147224	ENSG00000147224	HGNC:9462													
PRR12	gene	PRR12	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Global developmental delay, Intellectual disability, Abnormality of the iris, Abnormality of vision, Behavioral abnormality;Abnormality of the iris;Behavioral abnormality;Intellectual disability;Global developmental delay;Abnormality of vision				28135719;26163108;29556724		False	3	100;0;0	9.382	False		ENSG00000126464	ENSG00000126464	HGNC:29217													
PRSS12	gene	PRSS12	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 1, 249500;Mental Retardation, Recessive;MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 (MRT1)				12459588;25529582		False	3	80;20;0	9.382	False		ENSG00000164099	ENSG00000164099	HGNC:9477													
PRUNE1	gene	PRUNE1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481;neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490;NMIHBA;Complex neurological syndrome				26539891;28334956;33105479		False	3	100;0;0	9.382	False		ENSG00000143363	ENSG00000143363	HGNC:13420													
PSAP	gene	PSAP	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Metachromatic leukodystrophy due to SAP-b deficiency, 249900Gaucher disease, atypical, 610539Combined SAP deficiency, 611721Krabbe disease, atypical, 611722;ATYPICAL KRABBE DISEASE						False	3	100;0;0	9.382	False		ENSG00000197746	ENSG00000197746	HGNC:9498													
PSMC3	gene	PSMC3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354;neurodevelopmental disorder, MONDO:0700092				32500975;37256937		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000165916	ENSG00000165916	HGNC:9549													
PSMC5	gene	PSMC5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				33057194;38776958		False	3	67;33;0	9.382	False		ENSG00000087191	ENSG00000087191	HGNC:9552													
PSMD12	gene	PSMD12	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Stankiewicz-Isidor syndrome, 617516;Syndromic Neurodevelopmental Disorder				28132691		False	3	100;0;0	9.382	False		ENSG00000197170	ENSG00000197170	HGNC:9557													
PSPH	gene	PSPH	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PHOSPHOSERINE PHOSPHATASE DEFICIENCY				25152457		False	3	33;67;0	9.382	False		ENSG00000146733	ENSG00000146733	HGNC:9577													
PTBP1	gene	PTBP1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, MONDO:0700092;STAD syndrome, OMIM:621495				40965981		False	3	100;0;0	9.382	False		ENSG00000011304	ENSG00000011304	HGNC:9583													
PTCH1	gene	PTCH1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 7, OMIM:610828						False	3	100;0;0	9.382	False		ENSG00000185920	ENSG00000185920	HGNC:9585													
PTCHD1	gene	PTCHD1	Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	AUTISM/ID						False	3	100;0;0	9.382	False		ENSG00000165186	ENSG00000165186	HGNC:26392													
PTDSS1	gene	PTDSS1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM				24241535		False	3	50;50;0	9.382	False		ENSG00000156471	ENSG00000156471	HGNC:9587													
PTEN	gene	PTEN	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355;PROTEUS SYNDROME						False	3	100;0;0	9.382	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
PTF1A	gene	PTF1A	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS				21749365;15543146;10507728		False	3	33;67;0	9.382	False		ENSG00000168267	ENSG00000168267	HGNC:23734													
PTPN11	gene	PTPN11	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250;LEOPARD SYNDROME TYPE 1						False	3	100;0;0	9.382	False		ENSG00000179295	ENSG00000179295	HGNC:9644													
PTPN23	gene	PTPN23	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental epileptic encephalopathy with hypomyelination and brain;Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 atrophy;Intellectual disability;Severe developmental delay,				29899372;29090338;25558065		False	3	100;0;0	9.382	False		ENSG00000076201	ENSG00000076201	HGNC:14406													
PTPN4	gene	PTPN4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, MONDO:0001071				17953619;25424712;30238967;https://doi.org/10.1016/j.xhgg.2021.100033		False	3	100;0;0	9.382	False		ENSG00000088179	ENSG00000088179	HGNC:9656													
PTRH2	gene	PTRH2	Expert Review;Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263;neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012				25574476;28175314;28328138;25558065;27129381;39176129;39766776		False	3	100;0;0	9.382	False		ENSG00000141378	ENSG00000141378	HGNC:24265													
PTRHD1	gene	PTRHD1	Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747				30398675;27134041;27753167;29143421		False	3	50;50;0	9.382	True		ENSG00000184924	ENSG00000184924	HGNC:33782													
PTS	gene	PTS	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY				8178819;10220141;9450907		False	3	33;67;0	9.382	False		ENSG00000150787	ENSG00000150787	HGNC:9689													
PUF60	gene	PUF60	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Syndromic intellectual disability;Verheij syndrome, 615583;VRJS;Chromosome 8q24.3 deletion syndrome;PUF60 syndrome;Intellectual disability				 28327570;  27804958; 24140112		False	3	50;0;50	9.382	False		ENSG00000179950	ENSG00000179950	HGNC:17042													
PUM1	gene	PUM1	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 47 617931				29474920;30903679;31859446;25768905		False	3	100;0;0	9.382	False		ENSG00000134644	ENSG00000134644	HGNC:14957													
PURA	gene	PURA	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	INTELLECTUAL DISABILITY				25342064		False	3	100;0;0	9.382	False		ENSG00000185129	ENSG00000185129	HGNC:9701													
PUS1	gene	PUS1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462;Mitochondrial myopathy and sideroblastic anemia 1; MLASA;  Intellectual disability				28832011;26556812;25037980;25227147;21686963		False	3	33;0;67	9.382	False		ENSG00000177192	ENSG00000177192	HGNC:15508													
PUS3	gene	PUS3	Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051				30697592;30308082;27055666		False	3	0;100;0	9.382	False		ENSG00000110060	ENSG00000110060	HGNC:25461													
PUS7	gene	PUS7	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342;Short stature;Microcephaly;Intellectual disability;Behavioral abnormality				30778726;30526862		False	3	100;0;0	9.382	False		ENSG00000091127	ENSG00000091127	HGNC:26033													
PYCR1	gene	PYCR1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIB, 612940;ARCL2B;Intellectual disability				27756598;19401719;27796797;26516448		False	3	25;25;50	9.382	False		ENSG00000183010	ENSG00000183010	HGNC:9721													
PYCR2	gene	PYCR2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 10, 616420; intellectual disability;Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume				25865492;27130255; 27860360		False	3	33;67;0	9.382	False		ENSG00000143811	ENSG00000143811	HGNC:30262													
QARS	gene	QARS	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760;Intellectual disability				28620870;24656866;25041233; 25471517;25432320;24709618		False	3	50;50;0	9.382	False		ENSG00000172053	ENSG00000172053	HGNC:9751													
QDPR	gene	QDPR	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	BH4-DEFICIENT HYPERPHENYLALANINEMIA C				9744478;9341885;2116088;8326489;11153907		False	3	33;67;0	9.382	False		ENSG00000151552	ENSG00000151552	HGNC:9752													
QRICH1	gene	QRICH1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ververi-Brady syndrome, 617982;Intellectual disability				28692176;25529582		False	3	100;0;0	9.382	False		ENSG00000198218	ENSG00000198218	HGNC:24713													
RAB11A	gene	RAB11A	Expert Review;Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay, HP:0001263;Intellectual disability, HP:0001249				29100083;33875846		False	3	67;33;0	9.382	False		ENSG00000103769	ENSG00000103769	HGNC:9760													
RAB11B	gene	RAB11B	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807				19344873;29106825		False	3	100;0;0	9.382	False		ENSG00000185236	ENSG00000185236	HGNC:9761													
RAB18	gene	RAB18	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 3, 614222;WARBURG MICRO SYNDROME TYPE 3						False	3	100;0;0	9.382	False		ENSG00000099246	ENSG00000099246	HGNC:14244													
RAB23	gene	RAB23	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	ACROCEPHALOPOLYSYNDACTYLY TYPE 2				17503333;20358613		False	3	33;67;0	9.382	False		ENSG00000112210	ENSG00000112210	HGNC:14263													
RAB39B	gene	RAB39B	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked 72, OMIM:300271;Waisman syndrome, OMIM:311510				20159109;25434005;11050621;29152164;32873259;34761259		False	3	100;0;0	9.382	False		ENSG00000155961	ENSG00000155961	HGNC:16499													
RAB3GAP1	gene	RAB3GAP1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 1, 600118;WARBURG MICRO SYNDROME TYPE 1						False	3	100;0;0	9.382	False		ENSG00000115839	ENSG00000115839	HGNC:17063													
RAB3GAP2	gene	RAB3GAP2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225						False	3	100;0;0	9.382	False		ENSG00000118873	ENSG00000118873	HGNC:17168													
RAB5C	gene	RAB5C	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder MONDO:0700092, RAB5C-related				37552066		False	3	100;0;0	9.382	False		ENSG00000108774	ENSG00000108774	HGNC:9785													
RAC1	gene	RAC1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	intellectual disability; developmental delay				27479843; 28886345		False	3	0;100;0	9.382	False		ENSG00000136238	ENSG00000136238	HGNC:9801													
RAC3	gene	RAC3	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577				29276006;30293988;35851598;35595279		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000169750	ENSG00000169750	HGNC:9803													
RAD21	gene	RAD21	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 4, OMIM:614701				22633399;30716475;24378232;27882533;27620904;31334757;32193685		False	3	100;0;0	9.382	False		ENSG00000164754	ENSG00000164754	HGNC:9811													
RAF1	gene	RAF1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 5, 611553LEOPARD syndrome 2, 611554;NOONAN SYNDROME 5						False	3	100;0;0	9.382	False		ENSG00000132155	ENSG00000132155	HGNC:9829													
RAI1	gene	RAI1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Immunodeficiency 9, 612782;SMITH-MAGENIS SYNDROME (SMS)						False	3	100;0;0	9.382	False		ENSG00000108557	ENSG00000108557	HGNC:9834													
RALA	gene	RALA	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Seizures;Abnormality of nervous system morphology;Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology;Intellectual disability				30500825		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000006451	ENSG00000006451	HGNC:9839													
RALGAPA1	gene	RALGAPA1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797				32004447		False	3	100;0;0	9.382	False		ENSG00000174373	ENSG00000174373	HGNC:17770													
RAP1B	gene	RAP1B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654;Syndromic intellectual disability				26280580;32627184;35451551		False	3	100;0;0	9.382	False		ENSG00000127314	ENSG00000127314	HGNC:9857													
RARB	gene	RARB	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Microphthalmia, syndromic 12, OMIM:615524;neurodevelopmental disorder, MONDO:0700092				17506106;24075189;25457163;27120018;30281527;30880327		False	3	50;50;0	9.382	False		ENSG00000077092	ENSG00000077092	HGNC:9865													
RARS	gene	RARS	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 9, OMIM:616140				31814314;28905880;24777941;30500859		False	3	100;0;0	9.382	False		ENSG00000113643	ENSG00000113643	HGNC:9870													
RARS2	gene	RARS2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 6, 611523;PONTOCEREBELLAR HYPOPLASIA TYPE 6				25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000146282	ENSG00000146282	HGNC:21406													
RBBP5	gene	RBBP5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				39036895		False	3	100;0;0	9.382	False		ENSG00000117222	ENSG00000117222	HGNC:9888													
RBBP8	gene	RBBP8	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Jawad syndrome, 251255;Microcephaly with mental retardation and digital anomalies;Seckel syndrome, 24389050;growth retardation, microcephaly with mental retardation, and a characteristic facial appearance				18071751;21998596;24389050;11781686		False	3	50;50;0	9.382	False		ENSG00000101773	ENSG00000101773	HGNC:9891													
RBL2	gene	RBL2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brunet-Wagner neurodevelopmental syndrome, OMIM:619690				33980986;32105419;9806916		False	3	67;0;33	9.382	False		ENSG00000103479	ENSG00000103479	HGNC:9894													
RBM10	gene	RBM10	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	TARP syndrome, 311900;TARP SYNDROME						False	3	100;0;0	9.382	False		ENSG00000182872	ENSG00000182872	HGNC:9896													
RBSN	gene	RBSN	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937;Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939				25233840;29784638;35652444		False	3	100;0;0	9.382	False		ENSG00000131381	ENSG00000131381	HGNC:20759													
RELN	gene	RELN	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Lissencephaly 2 (Norman-Roberts type), OMIM:257320;neurodevelopmental disorder, MONDO:0700092				35769015		False	3	100;0;0	9.382	False		ENSG00000189056	ENSG00000189056	HGNC:9957													
RERE	gene	RERE	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 616975				27087320;25529582		False	3	100;0;0	9.382	False		ENSG00000142599	ENSG00000142599	HGNC:9965													
RFT1	gene	RFT1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type In, 612015;CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N						False	3	0;100;0	9.382	False		ENSG00000163933	ENSG00000163933	HGNC:30220													
RFX3	gene	RFX3	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, MONDO:0001071;Autism spectrum disorder, MONDO:0005258;Attention deficit-hyperactivity disorder, MONDO:0007743				33658631		False	3	100;0;0	9.382	False		ENSG00000080298	ENSG00000080298	HGNC:9984													
RFX4	gene	RFX4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, MONDO:0001071;Autism spectrum disorder, MONDO:0005258				33658631		False	3	100;0;0	9.382	False		ENSG00000111783	ENSG00000111783	HGNC:9985													
RFX7	gene	RFX7	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, OMIM:620330				33658631		False	3	100;0;0	9.382	False		ENSG00000181827	ENSG00000181827	HGNC:25777													
RHOBTB2	gene	RHOBTB2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental and epileptic encephalopathy 64, OMIM:618004;developmental and epileptic encephalopathy, 64, MONDO:0033373				29276004;29768694;26740508;37165955		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000008853	ENSG00000008853	HGNC:18756													
RIT1	gene	RIT1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 8, 615355;NOONAN SYNDROME 8						False	3	100;0;0	9.382	False		ENSG00000143622	ENSG00000143622	HGNC:10023													
RLIM	gene	RLIM	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 61, 300978; Intellectual disability				25644381;25735484;19945382		False	3	33;0;67	9.382	False		ENSG00000131263	ENSG00000131263	HGNC:13429													
RMND1	gene	RMND1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 11, 614922;ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT						False	3	100;0;0	9.382	False		ENSG00000155906	ENSG00000155906	HGNC:21176													
RNASEH2A	gene	RNASEH2A	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 4, 610333;AICARDI-GOUTIERES SYNDROME 4						False	3	100;0;0	9.382	False		ENSG00000104889	ENSG00000104889	HGNC:18518													
RNASEH2B	gene	RNASEH2B	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 2, OMIM:610181						False	3	100;0;0	9.382	False		ENSG00000136104	ENSG00000136104	HGNC:25671													
RNASEH2C	gene	RNASEH2C	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 3, 610329;AICARDI-GOUTIERES SYNDROME 3						False	3	100;0;0	9.382	False		ENSG00000172922	ENSG00000172922	HGNC:24116													
RNASET2	gene	RNASET2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy, cystic, without megalencephaly, 612951;LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY						False	3	100;0;0	9.382	False		ENSG00000026297	ENSG00000026297	HGNC:21686													
RNF113A	gene	RNF113A	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Trichothiodystrophy 5, nonphotosensitive, OMIM:300953				25612912;29144457;31880405;31793730;29133357;30506991;15256591;24026126;23555887		False	3	25;0;75	9.382	False		ENSG00000125352	ENSG00000125352	HGNC:12974													
RNF125	gene	RNF125	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tenorio syndrome, 616260;Intellectual disability				25196541		False	3	100;0;0	9.382	False		ENSG00000101695	ENSG00000101695	HGNC:21150													
RNF13	gene	RNF13	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental and epileptic encephalopathy 73, OMIM:618379				30595371		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000082996	ENSG00000082996	HGNC:10057													
RNU2-2P	gene	RNU2-2P	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 119, OMIM:621304				40210679;40442284		False	3	75;0;25	9.382	False		ENSG00000222328	ENSG00000222328	HGNC:10152													
RNU4-2	gene	RNU4-2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ReNU syndrome, OMIM:620851				38821540;38645094;38991538		False	3	100;0;0	9.382	False		ENSG00000202538	ENSG00000202538	HGNC:10193													
RNU5B-1	gene	RNU5B-1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302;RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179				40379786;40442284		False	3	100;0;0	9.382	False		ENSG00000200156	ENSG00000200156	HGNC:10212													
RNU7-1	gene	RNU7-1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 9, OMIM:619487;Type I interferonopathy				33230297		False	3	100;0;0	9.382	False		ENSG00000238923	ENSG00000238923	HGNC:34033													
ROBO1	gene	ROBO1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability, MONDO:0001071;Neurooculorenal syndrome, OMIM:620305				35348658;35227688;34193621;31448886;30692597;29194579;28592524;28402530;28286008		False	3	67;33;0	9.382	False		ENSG00000169855	ENSG00000169855	HGNC:10249													
ROGDI	gene	ROGDI	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Kohlschutter-Tonz syndrome, 226750;KOHLSCH TTER-T _NZ SYNDROME						False	3	100;0;0	9.382	False		ENSG00000067836	ENSG00000067836	HGNC:29478													
RORA	gene	RORA	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060				29656859		False	3	0;100;0	9.382	False		ENSG00000069667	ENSG00000069667	HGNC:10258													
RPGRIP1L	gene	RPGRIP1L	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360;COACH SYNDROME (COACHS)						False	3	100;0;0	9.382	False		ENSG00000103494	ENSG00000103494	HGNC:29168													
RPIA	gene	RPIA	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ribose 5-phosphate isomerase deficiency, OMIM:608611				20499043;31056085;14988808;30088433;28801340		False	3	100;0;0	9.382	False		ENSG00000153574	ENSG00000153574	HGNC:10297													
RPL10	gene	RPL10	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998				25316788;25316788;25316788;35876338		False	3	60;0;40	9.382	False		ENSG00000147403	ENSG00000147403	HGNC:10298													
RPS6KA3	gene	RPS6KA3	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Coffin-Lowry syndrome, OMIM:303600;Intellectual developmental disorder, X-linked 19, OMIM:300844				14986828;9837815;10094187;9887375;8955270;17717706;15214012;11992250;12439904;10528858;12210291;12030896;12558110;17318637		False	3	100;0;0	9.382	False		ENSG00000177189	ENSG00000177189	HGNC:10432													
RREB1	gene	RREB1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	RASopathy, MONDO:0021060				38332451;40418122		False	3	100;0;0	9.382	False		ENSG00000124782	ENSG00000124782	HGNC:10449													
RRM2B	gene	RRM2B	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;Mitochondrial depletion syndrome; Intellectual disability				23107649; 17486094; 19138848;19667227; 21378381		False	3	100;0;0	9.382	False		ENSG00000048392	ENSG00000048392	HGNC:17296													
RSPRY1	gene	RSPRY1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723				26365341;30063090;38562122;39940902		False	3	100;0;0	9.382	False		ENSG00000159579	ENSG00000159579	HGNC:29420													
RSRC1	gene	RSRC1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 70 618402				28640246;29522154;32227164		False	3	100;0;0	9.382	False		ENSG00000174891	ENSG00000174891	HGNC:24152													
RTEL1	gene	RTEL1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5				23453664		False	3	33;67;0	9.382	False		ENSG00000258366	ENSG00000258366	HGNC:15888													
RTN4IP1	gene	RTN4IP1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Optic atrophy 10, with or without ataxia, mental retardation, and seizures				5529582;29181510;26593267		False	3	50;50;0	9.382	False		ENSG00000130347	ENSG00000130347	HGNC:18647													
RTTN	gene	RTTN	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, short stature, and polymicrogyria with seizures, 614833; Intellectual disability				26846091; 26608784;22939636		False	3	50;50;0	9.382	False		ENSG00000176225	ENSG00000176225	HGNC:18654													
SAMD9	gene	SAMD9	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MIRAGE syndrome, 617053 				 27182967		False	3	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000205413	ENSG00000205413	HGNC:1348													
SAMHD1	gene	SAMHD1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	AICARDI-GOUTIERES SYNDROME				PMID: 19525956		False	3	33;67;0	9.382	False		ENSG00000101347	ENSG00000101347	HGNC:15925													
SARS	gene	SARS	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709				28236339;34570399;35790048		False	3	50;50;0	9.382	False		ENSG00000031698	ENSG00000031698	HGNC:10537													
SARS2	gene	SARS2	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845				21255763;24034276;27279129		False	3	100;0;0	9.382	False		ENSG00000104835	ENSG00000104835	HGNC:17697													
SATB1	gene	SATB1	Expert Review Green;Other	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	intellectual disability;developmental disorders				33057194;33513338		False	3	67;33;0	9.382	False		ENSG00000182568	ENSG00000182568	HGNC:10541													
SATB2	gene	SATB2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cleft palate and mental retardation, 119540;CLEFT PALATE ISOLATED (CPI)						False	3	100;0;0	9.382	False		ENSG00000119042	ENSG00000119042	HGNC:21637													
SBF1	gene	SBF1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4B3 615284				24799518;23749797;30039846;28902413		False	3	100;0;0	9.382	False		ENSG00000100241	ENSG00000100241	HGNC:10542													
SC5D	gene	SC5D	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lathosterolosis, 607330;LATHOSTEROLOSIS (LATHST)						False	3	100;0;0	9.382	False		ENSG00000109929	ENSG00000109929	HGNC:10547													
SCAF4	gene	SCAF4	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fliedner-Zweier syndrome, OMIM:620511				32730804		False	3	100;0;0	9.382	False		ENSG00000156304	ENSG00000156304	HGNC:19304													
SCAMP5	gene	SCAMP5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability;Seizures;Abnormality of nervous system morphology;Behavioral abnormality				31439720;20071347;32020363;33390987		False	3	75;25;0	9.382	False	Other	ENSG00000198794	ENSG00000198794	HGNC:30386													
SCAPER	gene	SCAPER	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	AUTOSOMAL RECESSIVE MENTAL RETARDATION;Intellectual developmental disorder and retinitis pigmentosa, 618195				21937992;28794130;28041643		False	3	33;0;67	9.382	False		ENSG00000140386	ENSG00000140386	HGNC:13081													
SCN1A	gene	SCN1A	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, generalized, with febrile seizures plus, type 2, 604403Dravet syndrome, 607208Migraine, familial hemiplegic, 3, 609634Febrile seizures, familial, 3A, 604403;SCN1A-RELATED SEIZURE DISORDERS						False	3	100;0;0	9.382	False		ENSG00000144285	ENSG00000144285	HGNC:10585													
SCN2A	gene	SCN2A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721;NONSPECIFIC SEVERE ID						False	3	100;0;0	9.382	False		ENSG00000136531	ENSG00000136531	HGNC:10588													
SCN3A	gene	SCN3A	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, early infantile, 62, 617938;intellectual disability				29466837		False	3	100;0;0	9.382	False		ENSG00000153253	ENSG00000153253	HGNC:10590													
SCN8A	gene	SCN8A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cognitive impairment with or without cerebellar ataxia, OMIM:614306;Developmental and epileptic encephalopathy 13, OMIM:614558				31625145;24194747;22365152;16236810;25529582;24896178		False	3	100;0;0	9.382	False	Other	ENSG00000196876	ENSG00000196876	HGNC:10596													
SCO2	gene	SCO2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377;Myopia 6, 608908;FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY						False	3	100;0;0	9.382	False		ENSG00000130489	ENSG00000130489	HGNC:10604													
SCYL1	gene	SCYL1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719;acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744				26581903;30914295;29419818;17571074;30531813		False	3	100;0;0	9.382	False		ENSG00000142186	ENSG00000142186	HGNC:14372													
SDCCAG8	gene	SDCCAG8	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 7, 613615;Bardet-Biedl syndrome 16, 615993;Intellectual disability				22626039;20835237;22190896;25529582		False	3	100;0;0	9.382	False		ENSG00000054282	ENSG00000054282	HGNC:10671													
SDHA	gene	SDHA	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165;LEIGH SYNDROME (NUCLEAR DNA MUTATION)						False	3	100;0;0	9.382	False		ENSG00000073578	ENSG00000073578	HGNC:10680													
SDHAF1	gene	SDHAF1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MITOCHONDRIAL COMPLEX II DEFICIENCY				0		False	3	33;67;0	9.382	False		ENSG00000205138	ENSG00000205138	HGNC:33867													
SEL1L	gene	SEL1L	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068;?Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, OMIM:621067				37943610;37943617		False	3	100;0;0	9.382	False		ENSG00000071537	ENSG00000071537	HGNC:10717													
SEMA6B	gene	SEMA6B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, MONDO:0001071				35604360		False	3	100;0;0	9.382	False		ENSG00000167680	ENSG00000167680	HGNC:10739													
SEPHS1	gene	SEPHS1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ververi-Brady syndrome 2, OMIM:621325;Neurodevelopmental disorder, MONDO:0700092				38531365		False	3	100;0;0	9.382	False		ENSG00000086475	ENSG00000086475	HGNC:19685													
SEPSECS	gene	SEPSECS	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2D, 613811				26805434;29464431;28133863;26115735;27576344;26888482		False	3	100;0;0	9.382	False		ENSG00000109618	ENSG00000109618	HGNC:30605													
SERAC1	gene	SERAC1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739				29205472;22683713; 16527507;28482397; 28778788; 27186703;27604308		False	3	33;0;67	9.382	False		ENSG00000122335	ENSG00000122335	HGNC:21061													
SET	gene	SET	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability;SET syndrome;Mental retardation, autosomal dominant 58, 618106				28135719		False	3	67;33;0	9.382	False		ENSG00000119335	ENSG00000119335	HGNC:10760													
SETBP1	gene	SETBP1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078;Schinzel-Giedion midface retraction syndrome, OMIM: 269150;Schinzel-Giedion syndrome, MONDO:0010010				20436468;21037274;22473152;23020937;25217958;25356899;25028416;25082129;25663181;26096993;26188272;28346496;29463886;32445275;32460883		False	3	100;0;0	9.382	False		ENSG00000152217	ENSG00000152217	HGNC:15573													
SETD1A	gene	SETD1A	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056;Epilepsy, early-onset, with or without developmental delay, 618832				28135719;26974950;31197650;32346159		False	3	75;0;25	9.382	False		ENSG00000099381	ENSG00000099381	HGNC:29010													
SETD1B	gene	SETD1B	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder with seizures and language delay, OMIM:619000;Intellectual developmental disorder with seizures and language delay, MONDO:0033559				29322246;27106595;25428890;31110234;32546566		False	3	40;60;0	9.382	False		ENSG00000139718	ENSG00000139718	HGNC:29187													
SETD2	gene	SETD2	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Luscan-Lumish syndrome, 616831;intellectual disability				25363768;26084711;24852293;27317772		False	3	100;0;0	9.382	False		ENSG00000181555	ENSG00000181555	HGNC:18420													
SETD5	gene	SETD5	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23				24680889;29484850		False	3	100;0;0	9.382	False		ENSG00000168137	ENSG00000168137	HGNC:25566													
SF1	gene	SF1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				40987292		False	3	100;0;0	9.382	False		ENSG00000168066	ENSG00000168066	HGNC:12950													
SFXN4	gene	SFXN4	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 18 615578				31059822;24119684		False	3	100;0;0	9.382	False		ENSG00000183605	ENSG00000183605	HGNC:16088													
SGPL1	gene	SGPL1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Nephrotic syndrome 14	617575"				28181337; 28165339; 28165343		False	3	100;0;0	9.382	False		ENSG00000166224	ENSG00000166224	HGNC:10817													
SGSH	gene	SGSH	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MUCOPOLYSACCHARIDOSIS TYPE 3A (MPS3A)				0		False	3	100;0;0	9.382	False		ENSG00000181523	ENSG00000181523	HGNC:10818													
SHANK1	gene	SHANK1	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				34113010		False	3	83;0;17	9.382	False		ENSG00000161681	ENSG00000161681	HGNC:15474													
SHANK2	gene	SHANK2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SUSCEPTIBILITY TO AUTISM TYPE 17 (AUTS17)				20473310		False	3	100;0;0	9.382	False		ENSG00000162105	ENSG00000162105	HGNC:14295													
SHANK3	gene	SHANK3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phelan-McDermid syndrome, 606232{Schizophrenia 15}, 613950;PHELAN-MCDERMID SYNDROME						False	3	100;0;0	9.382	False		ENSG00000251322	ENSG00000251322	HGNC:14294													
SHH	gene	SHH	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160;TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME (TPTPS)						False	3	100;0;0	9.382	False		ENSG00000164690	ENSG00000164690	HGNC:10848													
SHMT2	gene	SHMT2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121				33015733		False	3	100;0;0	9.382	False		ENSG00000182199	ENSG00000182199	HGNC:10852													
SHOC2	gene	SHOC2	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan-like syndrome with loose anagen hair, 607721;NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR						False	3	100;0;0	9.382	False		ENSG00000108061	ENSG00000108061	HGNC:15454													
SHQ1	gene	SHQ1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Dystonia 35, childhood-onset, OMIM:619921;dystonia 35, childhood-onset, MONDO:0030958;Neurodevelopmental disorder with dystonia and seizures, OMIM:619922;neurodevelopmental disorder with dystonia and seizures, MONDO:0859258				34542157;29178645;36810590;36847845;36416405;37475611;36189577		False	3	50;50;0	9.382	False		ENSG00000144736	ENSG00000144736	HGNC:25543													
SIAH1	gene	SIAH1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay;Infantile hypotonia;Dysmorphic features;Laryngomalacia				32430360		False	3	100;0;0	9.382	False		ENSG00000196470	ENSG00000196470	HGNC:10857													
SIK1	gene	SIK1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	NEONATAL EPILEPSY SPECTRUM				25839329		False	3	33;67;0	9.382	False		ENSG00000142178	ENSG00000142178	HGNC:11142													
SIL1	gene	SIL1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Marinesco-Sjogren syndrome, 248800;MARINESCO-SJOEGREN SYNDROME (MSS)						False	3	100;0;0	9.382	False		ENSG00000120725	ENSG00000120725	HGNC:24624													
SIN3A	gene	SIN3A	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Witteveen-Kolk syndrome, 613406;Syndromic intellectual disability				27399968;28135719;25529582		False	3	100;0;0	9.382	False		ENSG00000169375	ENSG00000169375	HGNC:19353													
SIN3B	gene	SIN3B	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic intellectual disability				33811806		False	3	50;50;0	9.382	False		ENSG00000127511	ENSG00000127511	HGNC:19354													
SIX3	gene	SIX3	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly-2, 157170;Schizensephaly, 269160;HOLOPROSENCEPHALY						False	3	100;0;0	9.382	False		ENSG00000138083	ENSG00000138083	HGNC:10889													
SKI	gene	SKI	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Shprintzen-Goldberg syndrome, 182212;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS						False	3	100;0;0	9.382	False		ENSG00000157933	ENSG00000157933	HGNC:10896													
SLC12A2	gene	SLC12A2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Kilquist syndrome;deafness;intellectual disability;dysmorphic features;absent salivation;ectodermal dysplasia;constipation;intestinal malrotation;multiple congenital anomalies				28940097;30740830;32754646;32658972		False	3	100;0;0	9.382	False		ENSG00000064651	ENSG00000064651	HGNC:10911													
SLC12A5	gene	SLC12A5	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 34, OMIM;616645				24668262;26333769		False	3	33;0;67	9.382	False		ENSG00000124140	ENSG00000124140	HGNC:13818													
SLC12A6	gene	SLC12A6	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000				12368912;31439721;27485015;16606917;17893295;21628467		False	3	100;0;0	9.382	False		ENSG00000140199	ENSG00000140199	HGNC:10914													
SLC13A5	gene	SLC13A5	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE				24995870		False	3	33;67;0	9.382	False		ENSG00000141485	ENSG00000141485	HGNC:23089													
SLC16A2	gene	SLC16A2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Allan-Herndon-Dudley syndrome, OMIM:300523						False	3	100;0;0	9.382	False		ENSG00000147100	ENSG00000147100	HGNC:10923													
SLC17A5	gene	SLC17A5	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Salla disease, OMIM:604369;Sialic acid storage disorder, infantile, OMIM:269920						False	3	100;0;0	9.382	False		ENSG00000119899	ENSG00000119899	HGNC:10933													
SLC19A3	gene	SLC19A3	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2)				15871139;19387023;20065143		False	3	33;67;0	9.382	False		ENSG00000135917	ENSG00000135917	HGNC:16266													
SLC1A1	gene	SLC1A1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dicarboxylic aminoaciduria 222730				21123949;16311588;894411		False	3	100;0;0	9.382	False		ENSG00000106688	ENSG00000106688	HGNC:10939													
SLC1A2	gene	SLC1A2	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 41, OMIM:617105;developmental and epileptic encephalopathy, 41, MONDO:0014916				27476654;28777935		False	3	100;0;0	9.382	False		ENSG00000110436	ENSG00000110436	HGNC:10940													
SLC1A4	gene	SLC1A4	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657;Intellectual disability				29989513;27193218;26138499;26041762;25930971		False	3	100;0;0	9.382	False		ENSG00000115902	ENSG00000115902	HGNC:10942													
SLC25A1	gene	SLC25A1	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"	Combined D-2- and L-2-hydroxyglutaric aciduria	615182"						False	3	100;0;0	9.382	False		ENSG00000100075	ENSG00000100075	HGNC:10979													
SLC25A12	gene	SLC25A12	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 39,612949;Hypomyelination, global cerebral;Epileptic encephalopathy with global cerebral demyelination;Delayed psychomotor development				27290639;25655951;24515575;19641205;31403263;24515575;19641205;27290639;26633542		False	3	50;50;0	9.382	False		ENSG00000115840	ENSG00000115840	HGNC:10982													
SLC25A15	gene	SLC25A15	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970						False	3	100;0;0	9.382	False		ENSG00000102743	ENSG00000102743	HGNC:10985													
SLC25A22	gene	SLC25A22	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 3, 609304;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3						False	3	100;0;0	9.382	False		ENSG00000177542	ENSG00000177542	HGNC:19954													
SLC2A1	gene	SLC2A1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	GLUT1 deficiency syndrome 1, 606777;GLUT1 deficiency syndrome 2, 612126;{Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847;Dystonia 9, 601042;GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1)						False	3	100;0;0	9.382	False		ENSG00000117394	ENSG00000117394	HGNC:11005													
SLC30A9	gene	SLC30A9	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Birk-Landau-Perez syndrome, OMIM:617595				28334855;34716203;37041080		False	3	100;0;0	9.382	False		ENSG00000014824	ENSG00000014824	HGNC:1329													
SLC32A1	gene	SLC32A1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 114, OMIM:620774				36073542		False	3	100;0;0	9.382	False		ENSG00000101438	ENSG00000101438	HGNC:11018													
SLC33A1	gene	SLC33A1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital cataracts, hearing loss, and neurodegeneration, 614482				25529582;24896178;22243965		False	3	50;0;50	9.382	False		ENSG00000169359	ENSG00000169359	HGNC:95													
SLC35A1	gene	SLC35A1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIf, 603585;intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria				23873973;15576474;28856833;30115659		False	3	33;50;17	9.382	False		ENSG00000164414	ENSG00000164414	HGNC:11021													
SLC35A2	gene	SLC35A2	Expert Review Green	Intellectual disability		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				0		False	3	33;67;0	9.382	False		ENSG00000102100	ENSG00000102100	HGNC:11022													
SLC35C1	gene	SLC35C1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIc, 266265;CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C (CDG2C)						False	3	100;0;0	9.382	False		ENSG00000181830	ENSG00000181830	HGNC:20197													
SLC38A3	gene	SLC38A3	Expert Review Green;Literature;NHS GMS;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 102, 619881				34605855		False	3	100;0;0	9.382	False		ENSG00000188338	ENSG00000188338	HGNC:18044													
SLC39A14	gene	SLC39A14	Expert Review;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Hypermanganesemia with dystonia 2	617013"						False	3	100;0;0	9.382	False		ENSG00000104635	ENSG00000104635	HGNC:20858													
SLC39A8	gene	SLC39A8	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIn 616721						False	3	100;0;0	9.382	False		ENSG00000138821	ENSG00000138821	HGNC:20862													
SLC46A1	gene	SLC46A1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Folate malabsorption, hereditary, OMIM:229050				17446347;18559978;11804211;11807405;20795774;21333572		False	3	33;67;0	9.382	False		ENSG00000076351	ENSG00000076351	HGNC:30521													
SLC4A10	gene	SLC4A10	Expert Review Green;NHS GMS;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746				37459438;38054405;31130284		False	3	100;0;0	9.382	False		ENSG00000144290	ENSG00000144290	HGNC:13811													
SLC4A4	gene	SLC4A4	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Renal tubular acidosis, proximal, with ocular abnormalities, 604278;PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES (PRTA-OA)						False	3	100;0;0	9.382	False		ENSG00000080493	ENSG00000080493	HGNC:11030													
SLC5A6	gene	SLC5A6	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973				27904971;31392107;31754459;23104561;29669219		False	3	100;0;0	9.382	False		ENSG00000138074	ENSG00000138074	HGNC:11041													
SLC5A7	gene	SLC5A7	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143				27569547;39135055;36840359;36611016;33250374		False	3	100;0;0	9.382	False		ENSG00000115665	ENSG00000115665	HGNC:14025													
SLC6A1	gene	SLC6A1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myoclonic-atonic epilepsy, OMIM:616421				25865495;29315614;32469098;34006619;34028503		False	3	100;0;0	9.382	False		ENSG00000157103	ENSG00000157103	HGNC:11042													
SLC6A17	gene	SLC6A17	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48				25704603		False	3	100;0;0	9.382	False		ENSG00000197106	ENSG00000197106	HGNC:31399													
SLC6A19	gene	SLC6A19	Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"	Hartnup disorder	234500; Iminoglycinuria, digenic	242600"				27604308 20399395; 19335424		False	3	100;0;0	9.382	False		ENSG00000174358	ENSG00000174358	HGNC:27960													
SLC6A3	gene	SLC6A3	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PARKINSONISM-DYSTONIA, INFANTILE				0		False	3	33;67;0	9.382	False		ENSG00000142319	ENSG00000142319	HGNC:11049													
SLC6A8	gene	SLC6A8	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Cerebral creatine deficiency syndrome 1, 300352;X-LINKED CREATINE DEFICIENCY SYNDROME (XL-CDS)						False	3	100;0;0	9.382	False		ENSG00000130821	ENSG00000130821	HGNC:11055													
SLC6A9	gene	SLC6A9	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy with normal serum glycine, OMIM:617301				27481395;27773429		False	3	50;50;0	9.382	False		ENSG00000196517	ENSG00000196517	HGNC:11056													
SLC9A6	gene	SLC9A6	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked syndromic, Christianson type, 300243;MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE (MRXSC)				18342287;25044251;20395263;10528855;18342287;25529582;24896178;27256868		False	3	100;0;0	9.382	False		ENSG00000198689	ENSG00000198689	HGNC:11079													
SLX4	gene	SLX4	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	FANCONI ANEMIA COMPLEMENTATION GROUP P				21240275;21240277		False	3	33;67;0	9.382	False		ENSG00000188827	ENSG00000188827	HGNC:23845													
SMAD4	gene	SMAD4	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myhre syndrome, 139210;Includes intellectual disability				22243968;22585601;25529582;24896178		False	3	50;0;50	9.382	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
SMARCA1	gene	SMARCA1	Expert Review Green;NHS GMS;Other	Intellectual disability		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 intellectual disability, MONDO:0100284				26539891;26740508;27479843;27457812;33057194;40316778		False	3	67;0;33	9.382	False		ENSG00000102038	ENSG00000102038	HGNC:11097													
SMARCA2	gene	SMARCA2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nicolaides-Baraitser syndrome, OMIM:601358;Coffin-siris syndrome;Blepharophimosis intellectual disability syndrome				22822383;22366787;32694869		False	3	100;0;0	9.382	False		ENSG00000080503	ENSG00000080503	HGNC:11098													
SMARCA4	gene	SMARCA4	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 4, OMIM:614609						False	3	100;0;0	9.382	False		ENSG00000127616	ENSG00000127616	HGNC:11100													
SMARCA5	gene	SMARCA5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability;postnatal microcephaly;hypotonia;failure to thrive				33980485		False	3	100;0;0	9.382	False		ENSG00000153147	ENSG00000153147	HGNC:11101													
SMARCB1	gene	SMARCB1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 3, OMIM:614608						False	3	100;0;0	9.382	False		ENSG00000099956	ENSG00000099956	HGNC:11103													
SMARCC2	gene	SMARCC2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;neurodevelopmental delay and growth retardation;prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features				26350204;27392482;30580808		False	3	25;0;75	9.382	False		ENSG00000139613	ENSG00000139613	HGNC:11105													
SMARCD1	gene	SMARCD1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Generalized hypotonia;Feeding difficulties;Global developmental delay;Intellectual disability;Abnormality of the hand;Abnormality of the foot;Coffin-Siris syndrome 11, 618779				26350204;30879640		False	3	40;0;60	9.382	False		ENSG00000066117	ENSG00000066117	HGNC:11106													
SMARCE1	gene	SMARCE1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 5, OMIM:616938				22426308		False	3	100;0;0	9.382	False		ENSG00000073584	ENSG00000073584	HGNC:11109													
SMC1A	gene	SMC1A	Emory Genetics Laboratory;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370;Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044;Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771						False	3	100;0;0	9.382	False		ENSG00000072501	ENSG00000072501	HGNC:11111													
SMC3	gene	SMC3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cornelia de Lange syndrome 3, 610759;CDLS3				17273969;25655089;25125236;25529582		False	3	50;0;50	9.382	False		ENSG00000108055	ENSG00000108055	HGNC:2468													
SMG8	gene	SMG8	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;Microcephaly;Short stature;Facial dysmorphism				31130284;33242396		False	3	100;0;0	9.382	False		ENSG00000167447	ENSG00000167447	HGNC:25551													
SMOC1	gene	SMOC1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia with limb anomalies, 206920;OPHTHALMOACROMELIC SYNDROME (OAS)						False	3	100;0;0	9.382	False		ENSG00000198732	ENSG00000198732	HGNC:20318													
SMPD1	gene	SMPD1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Niemann-Pick disease, type A, 257200Niemann-Pick disease, type B, 607616;NIEMANN-PICK DISEASE TYPE A (NPDA)						False	3	100;0;0	9.382	False		ENSG00000166311	ENSG00000166311	HGNC:11120													
SMPD4	gene	SMPD4	Expert Review Green;Research	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis				31495489		False	3	0;100;0	9.382	False		ENSG00000136699	ENSG00000136699	HGNC:32949													
SMS	gene	SMS	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, Snyder-Robinson type, 309583;SNYDER-ROBINSON SYNDROME (SRS)						False	3	100;0;0	9.382	False		ENSG00000102172	ENSG00000102172	HGNC:11123													
SNAP25	gene	SNAP25	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Myasthenic syndrome, congenital 18, 616330;?Myasthenic syndrome, congenital, 18, 616330				29100083;28135719;25003006;29491473;25381298;30914295		False	3	100;0;0	9.382	False		ENSG00000132639	ENSG00000132639	HGNC:11132													
SNAP29	gene	SNAP29	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528;CEDNIK SYNDROME						False	3	100;0;0	9.382	False		ENSG00000099940	ENSG00000099940	HGNC:11133													
SNF8	gene	SNF8	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				38423010		False	3	100;0;0	9.382	False		ENSG00000159210	ENSG00000159210	HGNC:17028													
SNIP1	gene	SNIP1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501;psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787				22279524;34570759		False	3	0;0;100	9.382	False		ENSG00000163877	ENSG00000163877	HGNC:30587													
SNORD118	gene	SNORD118	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy, brain calcifications, and cysts 614561						False	3	80;20;0	9.382	False		ENSG00000200463	ENSG00000200463	HGNC:32952													
SNRPB	gene	SNRPB	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CEREBRO-COSTO-MANDIBULAR SYNDROME				0		False	3	33;67;0	9.382	False		ENSG00000125835	ENSG00000125835	HGNC:11153													
SNX14	gene	SNX14	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA				0		False	3	60;40;0	9.382	False		ENSG00000135317	ENSG00000135317	HGNC:14977													
SNX27	gene	SNX27	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Generalized hypotonia;Global developmental delay;Intellectual disability;Seizures				25894286;31721175;21300787;23524343		False	3	100;0;0	9.382	False		ENSG00000143376	ENSG00000143376	HGNC:20073													
SOD1	gene	SOD1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598				31314961;31332433;34380534;34788402;36935613;39629626		False	3	100;0;0	9.382	False		ENSG00000142168	ENSG00000142168	HGNC:11179													
SON	gene	SON	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"ZTTK syndrome	617140"						False	3	100;0;0	9.382	False		ENSG00000159140	ENSG00000159140	HGNC:11183													
SOS1	gene	SOS1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fibromatosis, gingival, 135300Noonan syndrome 4, 610733;NOONAN SYNDROME 4						False	3	100;0;0	9.382	False		ENSG00000115904	ENSG00000115904	HGNC:11187													
SOS2	gene	SOS2	Expert Review Green;Other	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 9				25795793;26173643		False	3	0;0;0	9.382	False		ENSG00000100485	ENSG00000100485	HGNC:11188													
SOX10	gene	SOX10	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Waardenburg syndrome, type 4C, 613266Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584PCWH syndrome, 609136;PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (PCWH)						False	3	100;0;0	9.382	False		ENSG00000100146	ENSG00000100146	HGNC:11190													
SOX11	gene	SOX11	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 9, OMIM:615866				24886874;26543203		False	3	100;0;0	9.382	False		ENSG00000176887	ENSG00000176887	HGNC:11191													
SOX2	gene	SOX2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	AEG SYNDROME				0		False	3	33;67;0	9.382	False		ENSG00000181449	ENSG00000181449	HGNC:11195													
SOX4	gene	SOX4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Coffin-Siris syndrome 10, OMIM:618506;Syndromic intellectual disability;Global developmental delay;Intellectual disability;Growth delay;Clinodactyly of the 5th finger;facial dysmorphism				30661772;35232796		False	3	100;0;0	9.382	False		ENSG00000124766	ENSG00000124766	HGNC:11200													
SOX5	gene	SOX5	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY				22290657		False	3	100;0;0	9.382	False		ENSG00000134532	ENSG00000134532	HGNC:11201													
SOX6	gene	SOX6	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual diability;ADHD;Craniosynostosis;Osteochondromas				32442410		False	3	100;0;0	9.382	False		ENSG00000110693	ENSG00000110693	HGNC:16421													
SPART	gene	SPART	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Troyer syndrome, OMIM:275900				18413476; 20437587; 26003402; 28679690		False	3	100;0;0	9.382	False		ENSG00000133104	ENSG00000133104	HGNC:18514													
SPAST	gene	SPAST	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438				39731306;39457434		False	3	75;0;25	9.382	False		ENSG00000021574	ENSG00000021574	HGNC:11233													
SPATA5	gene	SPATA5	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577				26299366;29343804;25529582		False	3	100;0;0	9.382	False		ENSG00000145375	ENSG00000145375	HGNC:18119													
SPATA5L1	gene	SPATA5L1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616				34626583		False	3	100;0;0	9.382	False		ENSG00000171763	ENSG00000171763	HGNC:28762													
SPECC1L	gene	SPECC1L	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Opitz GBBB syndrome, type II,145410;Intellectual disability;Autosomal dominant Opitz G/BBB syndrome				1897571;8849002;25412741		False	3	50;50;0	9.382	False		ENSG00000100014	ENSG00000100014	HGNC:29022													
SPEN	gene	SPEN	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental disorders				33057194;33596411		False	3	100;0;0	9.382	False		ENSG00000065526	ENSG00000065526	HGNC:17575													
SPG11	gene	SPG11	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 11, autosomal recessive, 604360;SPASTIC PARAPLEGIA-11						False	3	100;0;0	9.382	False		ENSG00000104133	ENSG00000104133	HGNC:11226													
SPOP	gene	SPOP	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nabais Sa-de Vries syndrome, type 1, 618828;Nabais Sa-de Vries syndrome, type 2, 618829				32109420		False	3	100;0;0	9.382	False	Other	ENSG00000121067	ENSG00000121067	HGNC:11254													
SPOUT1	gene	SPOUT1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154				39962046		False	3	100;0;0	9.382	False		ENSG00000198917	ENSG00000198917	HGNC:26933													
SPR	gene	SPR	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716				11443547		False	3	33;67;0	9.382	False		ENSG00000116096	ENSG00000116096	HGNC:11257													
SPRED1	gene	SPRED1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Legius syndrome, 611431;LEGIUS SYNDROME						False	3	100;0;0	9.382	False		ENSG00000166068	ENSG00000166068	HGNC:20249													
SPRED2	gene	SPRED2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	developmental delay;intellectual disability;cardiac defects;short stature;skeletal anomalies;a typical facial gestalt				34626534		False	3	100;0;0	9.382	False		ENSG00000198369	ENSG00000198369	HGNC:17722													
SPTAN1	gene	SPTAN1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 5, OMIM:613477;Developmental delay with or without epilepsy, OMIM:620540;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538				36331550;20493457;22258530;24896178		False	3	100;0;0	9.382	False		ENSG00000197694	ENSG00000197694	HGNC:11273													
SPTBN1	gene	SPTBN1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	autosomal dominant neurodevelopmental syndrome				34211179		False	3	100;0;0	9.382	False		ENSG00000115306	ENSG00000115306	HGNC:11275													
SPTBN2	gene	SPTBN2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386				23236289; 23838597; 28636205		False	3	100;0;0	9.382	False		ENSG00000173898	ENSG00000173898	HGNC:11276													
SPTBN4	gene	SPTBN4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519				28540413;28940097;29861105;31230720;31857255		False	3	100;0;0	9.382	False		ENSG00000160460	ENSG00000160460	HGNC:14896													
SRCAP	gene	SRCAP	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, OMIM:619595;Floating-Harbor syndrome, OMIM:136140				33909990;20358590;22265015		False	3	100;0;0	9.382	False		ENSG00000080603	ENSG00000080603	HGNC:16974													
SRD5A3	gene	SRD5A3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Iq, 612379Kahrizi syndrome, 612713;CONGENITAL DISORDERS OF GLYCOSYLATION						False	3	100;0;0	9.382	False		ENSG00000128039	ENSG00000128039	HGNC:25812													
SRPK3	gene	SRPK3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked 114, OMIM:301134				39073169		False	3	100;0;0	9.382	False		ENSG00000184343	ENSG00000184343	HGNC:11402													
SRRM2	gene	SRRM2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 72, OMIM:620439				35567594;33057194		False	3	60;40;0	9.382	False		ENSG00000167978	ENSG00000167978	HGNC:16639													
SRSF1	gene	SRSF1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489				37071997		False	3	100;0;0	9.382	False		ENSG00000136450	ENSG00000136450	HGNC:10780													
SSR4	gene	SSR4	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Congenital disorder of glycosylation, type Iy, 300934;CDG syndrome type Iy;SSR4-CDG				26264460;24218363		False	3	100;0;0	9.382	False		ENSG00000180879	ENSG00000180879	HGNC:11326													
ST3GAL3	gene	ST3GAL3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003;Intellectual developmental disorder, autosomal recessive 12, OMIM:611090;intellectual disability, autosomal recessive 12, MONDO:0012612				27604308;21907012;23252400;31584066;17120046;25529582		False	3	100;0;0	9.382	False		ENSG00000126091	ENSG00000126091	HGNC:10866													
ST3GAL5	gene	ST3GAL5	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Salt and pepper developmental regression syndrome, 609056;Developmental regression;Intellectual disability				24026681;27232954;26649472;25529582		False	3	50;50;0	9.382	False		ENSG00000115525	ENSG00000115525	HGNC:10872													
STAG1	gene	STAG1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 47, 617635;Syndromic unspecific intellectual disability				28119487;26350204;25529582		False	3	50;0;50	9.382	False		ENSG00000118007	ENSG00000118007	HGNC:11354													
STAG2	gene	STAG2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	STAG2-related developmental delay with microcephaly and congenital anomalies;STAG2-related X-linked Intellectual Deficiency;cohesinopathy;Global developmental delay;Intellectual disability;Abnormality of head or neck;Microcephaly;Growth delay;Hearing impairment;Abnormal heart morphology				29263825;28296084;30158690;30447054;19449417;26443594;25677961;23637084;25450604		False	3	100;0;0	9.382	False		ENSG00000101972	ENSG00000101972	HGNC:11355													
STAMBP	gene	STAMBP	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly-capillary malformation syndrome, OMIM:614261				23542699		False	3	33;67;0	9.382	False		ENSG00000124356	ENSG00000124356	HGNC:16950													
STIL	gene	STIL	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 7, primary, autosomal recessive, 612703;MICROCEPHALY PRIMARY TYPE 7						False	3	100;0;0	9.382	False		ENSG00000123473	ENSG00000123473	HGNC:10879													
STRA6	gene	STRA6	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186;MICROPHTHALMIA SYNDROMIC TYPE 9 (MCOPS9)						False	3	100;0;0	9.382	False		ENSG00000137868	ENSG00000137868	HGNC:30650													
STRADA	gene	STRADA	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation); severe psychomotor retardation				27170158;17522105;28688840		False	3	50;50;0	9.382	False		ENSG00000266173	ENSG00000266173	HGNC:30172													
STT3A	gene	STT3A	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714;Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596				23842455;28424003;30701557;34653363		False	3	50;0;50	9.382	False		ENSG00000134910	ENSG00000134910	HGNC:6172													
STX1A	gene	STX1A	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				36564538		False	3	100;0;0	9.382	False		ENSG00000106089	ENSG00000106089	HGNC:11433													
STX1B	gene	STX1B	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9				25362483		False	3	33;67;0	9.382	False		ENSG00000099365	ENSG00000099365	HGNC:18539													
STXBP1	gene	STXBP1	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 4, OMIM:612164;developmental and epileptic encephalopathy, 4, MONDO:0012812				35190816;31855252;18469812;19557857		False	3	100;0;0	9.382	False		ENSG00000136854	ENSG00000136854	HGNC:11444													
SUCLG1	gene	SUCLG1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	FATAL INFANTILE LACTIC ACIDOSIS				0		False	3	33;67;0	9.382	False		ENSG00000163541	ENSG00000163541	HGNC:11449													
SUFU	gene	SUFU	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 32, OMIM:617757				21289193;28965847;33024317;34675124		False	3	100;0;0	9.382	False		ENSG00000107882	ENSG00000107882	HGNC:16466													
SUMF1	gene	SUMF1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	SULFATIDOSIS, JUVENILE, AUSTIN TYPE				12757706;21224894;12757705		False	3	33;67;0	9.382	False		ENSG00000144455	ENSG00000144455	HGNC:20376													
SUOX	gene	SUOX	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sulfite oxidase deficiency, 272300				27604308;  27289259;  12112661 		False	3	0;0;100	9.382	False		ENSG00000139531	ENSG00000139531	HGNC:11460													
SUPT16H	gene	SUPT16H	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480;Global developmental delay;Intellectual disability;Abnormality of the corpus callosum				31924697;36226587;36255738		False	3	0;100;0	9.382	False		ENSG00000092201	ENSG00000092201	HGNC:11465													
SUPV3L1	gene	SUPV3L1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome				35023579;39596606		False	3	100;0;0	9.382	False		ENSG00000156502	ENSG00000156502	HGNC:11471													
SURF1	gene	SURF1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, due to COX deficiency, 256000;LEIGH SYNDROME (NUCLEAR DNA MUTATION)						False	3	100;0;0	9.382	False		ENSG00000148290	ENSG00000148290	HGNC:11474													
SUZ12	gene	SUZ12	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Imagawa-Matsumoto syndrome 618786				28229514;30019515;31736240;15385962;19535498;31724824		False	3	100;0;0	9.382	False		ENSG00000178691	ENSG00000178691	HGNC:17101													
SVBP	gene	SVBP	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569;Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816				26350204;31363758;30607023		False	3	33;0;67	9.382	False		ENSG00000177868	ENSG00000177868	HGNC:29204													
SYN1	gene	SYN1	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491;EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS						False	3	100;0;0	9.382	False		ENSG00000008056	ENSG00000008056	HGNC:11494													
SYNCRIP	gene	SYNCRIP	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Autism;Myoclonic atonic seizures;Abnormality of nervous system morphology				34157790;30504930;27479843;26350204;23020937		False	3	0;25;75	9.382	False		ENSG00000135316	ENSG00000135316	HGNC:16918													
SYNGAP1	gene	SYNGAP1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 5, OMIM:612621						False	3	100;0;0	9.382	False		ENSG00000197283	ENSG00000197283	HGNC:11497													
SYNJ1	gene	SYNJ1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	early onset refractory seizures and progressive neurological decline;Epileptic encephalopathy, early infantile, 53, 617389				27435091		False	3	100;0;0	9.382	False		ENSG00000159082	ENSG00000159082	HGNC:11503													
SYP	gene	SYP	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental Retardation, X-linked;Mental retardation, X-linked 96, 300802;MENTAL RETARDATION X-LINKED SYP-RELATED (MRXSYP)						False	3	100;0;0	9.382	False		ENSG00000102003	ENSG00000102003	HGNC:11506													
SYT1	gene	SYT1	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	INTELLECTUAL DISABILITY;SYT1-associated neurodevelopmental disorder				26350204;25705886;30107533		False	3	40;40;20	9.382	False		ENSG00000067715	ENSG00000067715	HGNC:11509													
SZT2	gene	SZT2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 18, 615476; developmental delay; non-syndromic intellectual disability; absent developmental milestones				28893434; 23932106; 24324832		False	3	33;67;0	9.382	False		ENSG00000198198	ENSG00000198198	HGNC:29040													
TAF1	gene	TAF1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic 33, 300966; global developmental delay; intellectual disability				26637982; 25644381; 26350204		False	3	50;0;50	9.382	False		ENSG00000147133	ENSG00000147133	HGNC:11535													
TAF2	gene	TAF2	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 40, OMIM:615599				21937992;22633631;24084144;26350204;34474177		False	3	50;0;50	9.382	False		ENSG00000064313	ENSG00000064313	HGNC:11536													
TAF4	gene	TAF4	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 73, OMIM:620450				27026076;28191890;33875846;35904126		False	3	100;0;0	9.382	False		ENSG00000130699	ENSG00000130699	HGNC:11537													
TAF6	gene	TAF6	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Alazami-Yuan syndrome, 617126;Intellectual disability				25558065;25574841		False	3	100;0;0	9.382	False		ENSG00000106290	ENSG00000106290	HGNC:11540													
TAF8	gene	TAF8	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972				29648665;35759269		False	3	50;50;0	9.382	False		ENSG00000137413	ENSG00000137413	HGNC:17300													
TANC2	gene	TANC2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906;intellectual developmental disorder with autistic features and language delay, with or without seizures, MONDO:0030051				26350204;31616000;33160097;30021165		False	3	40;20;40	9.382	False		ENSG00000170921	ENSG00000170921	HGNC:30212													
TANGO2	gene	TANGO2	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration  616878				26805782;26805781		False	3	100;0;0	9.382	False		ENSG00000183597	ENSG00000183597	HGNC:25439													
TAOK1	gene	TAOK1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575				31230721		False	3	100;0;0	9.382	False		ENSG00000160551	ENSG00000160551	HGNC:29259													
TAOK2	gene	TAOK2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neuronevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				39737487;29467497		False	3	100;0;0	9.382	False		ENSG00000149930	ENSG00000149930	HGNC:16835													
TARS2	gene	TARS2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 21, OMIM: 615918;combined oxidative phosphorylation defect type 21,NDO:0014398				39394138;33153448;34508595;37454282		False	3	100;0;0	9.382	False		ENSG00000143374	ENSG00000143374	HGNC:30740													
TASP1	gene	TASP1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Suleiman-El-Hattab syndrome, OMIM:618950				29633245;31209944;31350873;35512351		False	3	100;0;0	9.382	False		ENSG00000089123	ENSG00000089123	HGNC:15859													
TAT	gene	TAT	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Tyrosinemia, type II, 276600;TYROSINEMIA TYPE 2 (TYRO2)						False	3	100;0;0	9.382	False		ENSG00000198650	ENSG00000198650	HGNC:11573													
TAZ	gene	TAZ	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	BARTH SYNDROME; BTHS				8630491		False	3	33;67;0	9.382	False		ENSG00000102125	ENSG00000102125	HGNC:11577													
TBC1D20	gene	TBC1D20	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 4, 615663;mental retardation;developmental delay				24239381;26063829		False	3	100;0;0	9.382	False		ENSG00000125875	ENSG00000125875	HGNC:16133													
TBC1D23	gene	TBC1D23	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 11, 617695;Intellectual disability				28823707;28823706;28397838		False	3	100;0;0	9.382	False		ENSG00000036054	ENSG00000036054	HGNC:25622													
TBC1D24	gene	TBC1D24	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338;NON SYNDROMAL HEARING LOSS						False	3	75;0;25	9.382	False		ENSG00000162065	ENSG00000162065	HGNC:29203													
TBC1D2B	gene	TBC1D2B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323;neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148				32623794;38374468		False	3	67;33;0	9.382	False		ENSG00000167202	ENSG00000167202	HGNC:29183													
TBC1D7	gene	TBC1D7	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000				23687350;24515783;35584673;36669495		False	3	75;25;0	9.382	False		ENSG00000145979	ENSG00000145979	HGNC:21066													
TBCD	gene	TBCD	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193;Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646						False	3	100;0;0	9.382	False		ENSG00000141556	ENSG00000141556	HGNC:11581													
TBCE	gene	TBCE	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Kenny-Caffey syndrome, type 1, OMIM:244460;autosomal recessive Kenny-Caffey syndrome, MONDO:0009486;Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410;hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426						False	3	100;0;0	9.382	False		ENSG00000116957	ENSG00000116957	HGNC:11582													
TBCK	gene	TBCK	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 616900				27040692;25529582		False	3	100;0;0	9.382	False		ENSG00000145348	ENSG00000145348	HGNC:28261													
TBL1XR1	gene	TBL1XR1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	AUTISM				23160955		False	3	100;0;0	9.382	False		ENSG00000177565	ENSG00000177565	HGNC:29529													
TBR1	gene	TBR1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autism;Intellectual developmental disorder with autism and speech delay, 606053;Abnormal cortical gyration				23160955;30268909;25356899;22495311;30250039		False	3	67;33;0	9.382	False		ENSG00000136535	ENSG00000136535	HGNC:11590													
TCEAL1	gene	TCEAL1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094				36368327		False	3	100;0;0	9.382	False		ENSG00000172465	ENSG00000172465	HGNC:11616													
TCF20	gene	TCF20	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	TCF20 syndrome;Intellectual disability;developmental delay;Developmental delay with variable intellectual impairment and behavioral abnormalities 618430				27436265;25533962;27479843;28135719;30739909;27436265;25228304;27479843;28333917;28554332;30525188		False	3	100;0;0	9.382	False		ENSG00000100207	ENSG00000100207	HGNC:11631													
TCF4	gene	TCF4	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pitt-Hopkins syndrome, 610954;PITT-HOPKINS SYNDROME (PTHS)				29588831;18728071;17436255;17436254;25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000196628	ENSG00000196628	HGNC:11634													
TCF7L2	gene	TCF7L2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental disorders;Global developmental delay;Intellectual disability;Autism;Attention deficit hyperactivity disorder;Myopia;Abnormality of skeletal system				33057194;34003604		False	3	67;33;0	9.382	False		ENSG00000148737	ENSG00000148737	HGNC:11641													
TCN2	gene	TCN2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.				PMID: 24305960;7980584;7849710;20352340;18956255		False	3	100;0;0	9.382	False		ENSG00000185339	ENSG00000185339	HGNC:11653													
TCTN2	gene	TCTN2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	JOUBERT SYNDROME AND RELATED DISORDERS				0		False	3	0;100;0	9.382	False		ENSG00000168778	ENSG00000168778	HGNC:25774													
TCTN3	gene	TCTN3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome IV, 258860;Joubert syndrome 18, 614815				22883145;25118024;26092869		False	3	100;0;0	9.382	False		ENSG00000119977	ENSG00000119977	HGNC:24519													
TDP2	gene	TDP2	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 23, 616949)				24658003;30109272;31410782		False	3	100;0;0	9.382	False		ENSG00000111802	ENSG00000111802	HGNC:17768													
TECPR2	gene	TECPR2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 49, autosomal recessive,  615031				23176824;26542466;25529582		False	3	25;75;0	9.382	False		ENSG00000196663	ENSG00000196663	HGNC:19957													
TEFM	gene	TEFM	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 58, OMIM:620451				36823193		False	3	100;0;0	9.382	False		ENSG00000172171	ENSG00000172171	HGNC:26223													
TELO2	gene	TELO2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	You-Hoover-Fong syndrome, 616954, syndromic intellectual disability				27132593;28944240		False	3	100;0;0	9.382	False		ENSG00000100726	ENSG00000100726	HGNC:29099													
TENM3	gene	TENM3	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 15, OMIM:615145;?Microphthalmia, isolated, with coloboma 9, OMIM:615145;Microphthalmia, isolated, with coloboma 9, MONDO:0014059				30513139;22766609;27103084;29753094		False	3	100;0;0	9.382	False		ENSG00000218336	ENSG00000218336	HGNC:29944													
TET3	gene	TET3	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Beck-Fahrner syndrome OMIM:618798				31928709		False	3	100;0;0	9.382	False		ENSG00000187605	ENSG00000187605	HGNC:28313													
TFE3	gene	TFE3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		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, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066				30595499;31833172;32409512		False	3	100;0;0	9.382	False		ENSG00000068323	ENSG00000068323	HGNC:11752													
TFG	gene	TFG	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 57, autosomal recessive, OMIM:615658				23479643;27601211;27492651;28124177;29971521;30467354;33767317		False	3	75;0;25	9.382	False		ENSG00000114354	ENSG00000114354	HGNC:11758													
TGIF1	gene	TGIF1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HOLOPROSENCEPHALY				0		False	3	33;67;0	9.382	False		ENSG00000177426	ENSG00000177426	HGNC:11776													
TH	gene	TH	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	DOPA-RESPONSIVE DYSTONIA				7814018;17696123;9732974;8528210;21937992;8817341;10585338;9703425;11246459		False	3	33;67;0	9.382	False		ENSG00000180176	ENSG00000180176	HGNC:11782													
THOC2	gene	THOC2	Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 12/35, 300957				26166480; 19377476		False	3	0;33;67	9.382	False		ENSG00000125676	ENSG00000125676	HGNC:19073													
THOC6	gene	THOC6	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Beaulieu-Boycott-Innes syndrome,  613680;Includes developmental delay and mental retardation				23621916		False	3	100;0;0	9.382	False		ENSG00000131652	ENSG00000131652	HGNC:28369													
THRA	gene	THRA	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6				22168587;22494134		False	3	50;50;0	9.382	False		ENSG00000126351	ENSG00000126351	HGNC:11796													
THUMPD1	gene	THUMPD1	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989				30237576;35196516		False	3	57;0;43	9.382	False		ENSG00000066654	ENSG00000066654	HGNC:23807													
TIAM1	gene	TIAM1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with language delay and seizures, OMIM:619908				35240055;33328293		False	3	67;33;0	9.382	False		ENSG00000156299	ENSG00000156299	HGNC:11805													
TIMM50	gene	TIMM50	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type IX, 617698				27573165;30190335;31058414;Serajee et al. (ASHG conference 2015 - abstract Nr. 2299T)		False	3	100;0;0	9.382	False		ENSG00000105197	ENSG00000105197	HGNC:23656													
TLK2	gene	TLK2	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 57, OMIM:618050;Mental retardation, autosomal dominant 57, MONDO:0054837				27479843;29861108;33323470		False	3	0;0;100	9.382	False		ENSG00000146872	ENSG00000146872	HGNC:11842													
TMCO1	gene	TMCO1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132;CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME						False	3	100;0;0	9.382	False		ENSG00000143183	ENSG00000143183	HGNC:18188													
TMEM106B	gene	TMEM106B	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791				29186371;29444210;30643851;32595021		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000106460	ENSG00000106460	HGNC:22407													
TMEM147	gene	TMEM147	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, OMIM:620075				36044892		False	3	100;0;0	9.382	False		ENSG00000105677	ENSG00000105677	HGNC:30414													
TMEM165	gene	TMEM165	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIk, 614727;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK						False	3	100;0;0	9.382	False		ENSG00000134851	ENSG00000134851	HGNC:30760													
TMEM216	gene	TMEM216	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	JOUBERT SYNDROME 2				20036350;20512146		False	3	0;100;0	9.382	False		ENSG00000187049	ENSG00000187049	HGNC:25018													
TMEM222	gene	TMEM222	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470				33824500;27457812		False	3	100;0;0	9.382	False		ENSG00000186501	ENSG00000186501	HGNC:25363													
TMEM237	gene	TMEM237	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 14, 614424;JOUBERT SYNDROME 14						False	3	100;0;0	9.382	False		ENSG00000155755	ENSG00000155755	HGNC:14432													
TMEM240	gene	TMEM240	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 21,  607454				25070513		False	3	100;0;0	9.382	False		ENSG00000205090	ENSG00000205090	HGNC:25186													
TMEM5	gene	TMEM5	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	SEVERE COBBLESTONE LISSENCEPHALY				23217329;23519211		False	3	33;67;0	9.382	False		ENSG00000118600	ENSG00000118600	HGNC:13530													
TMEM63B	gene	TMEM63B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 118, OMIM:621250				37421948		False	3	100;0;0	9.382	False		ENSG00000137216	ENSG00000137216	HGNC:17735													
TMEM63C	gene	TMEM63C	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 87, autosomal recessive, OMIM:619966				35718349		False	3	100;0;0	9.382	False		ENSG00000165548	ENSG00000165548	HGNC:23787													
TMEM67	gene	TMEM67	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550;COACH SYNDROME(COACHS)						False	3	100;0;0	9.382	False		ENSG00000164953	ENSG00000164953	HGNC:28396													
TMEM70	gene	TMEM70	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2				18953340;21147908		False	3	33;67;0	9.382	False		ENSG00000175606	ENSG00000175606	HGNC:26050													
TMEM94	gene	TMEM94	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316				30526868		False	3	0;100;0	9.382	False		ENSG00000177728	ENSG00000177728	HGNC:28983													
TMTC3	gene	TMTC3	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 8,  617255;includes intellectual disability						False	3	100;0;0	9.382	False		ENSG00000139324	ENSG00000139324	HGNC:26899													
TMX2	gene	TMX2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730;Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887				31586943;31270415;31735293		False	3	100;0;0	9.382	False		ENSG00000213593	ENSG00000213593	HGNC:30739													
TNPO2	gene	TNPO2	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability;Dysmorphic features;Microcephaly;Seizures;Hypotonia				26350204;34314705		False	3	25;0;75	9.382	False		ENSG00000105576	ENSG00000105576	HGNC:19998													
TNR	gene	TNR	Expert list;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653				28334938;32099069		False	3	100;0;0	9.382	False		ENSG00000116147	ENSG00000116147	HGNC:11953													
TNRC6B	gene	TNRC6B	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Autistic behaviour				32152250;28135719;25363768;27479843;28959963;25228304		False	3	100;0;0	9.382	False		ENSG00000100354	ENSG00000100354	HGNC:29190													
TOE1	gene	TOE1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	 Pontocerebellar hypoplasia, type 7  614969 				 28092684		False	3	100;0;0	9.382	False		ENSG00000132773	ENSG00000132773	HGNC:15954													
TOR1A	gene	TOR1A	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis multiplex congenita 5, OMIM:618947;Arthrogryposis multiplex congenita 5, MONDO:0100218				30244176;29053766;28516161;24896178		False	3	67;0;33	9.382	False		ENSG00000136827	ENSG00000136827	HGNC:3098													
TP73	gene	TP73	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466				31130284;34077761		False	3	100;0;0	9.382	False		ENSG00000078900	ENSG00000078900	HGNC:12003													
TPP1	gene	TPP1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 2, 204500;NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2)						False	3	100;0;0	9.382	False		ENSG00000166340	ENSG00000166340	HGNC:2073													
TPP2	gene	TPP2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220				33586135;25414442;25525876;30533531		False	3	100;0;0	9.382	False		ENSG00000134900	ENSG00000134900	HGNC:12016													
TRA2B	gene	TRA2B	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ramond-Elliott neurodevelopmental syndrome, OMIM:621421				36549593		False	3	100;0;0	9.382	False		ENSG00000136527	ENSG00000136527	HGNC:10781													
TRAF7	gene	TRAF7	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiac, facial, and digital anomalies with developmental delay, 618164;Global developmental delay;Abnormal heart morphology;Abnormality of digit;Abnormality of limbs				29961569;27479843;28135719;25363760;25961944		False	3	100;0;0	9.382	False		ENSG00000131653	ENSG00000131653	HGNC:20456													
TRAIP	gene	TRAIP	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 9, OMIM:616777				26595769;30914295		False	3	100;0;0	9.382	False		ENSG00000183763	ENSG00000183763	HGNC:30764													
TRAPPC12	gene	TRAPPC12	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669;Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696				28777934;32369837		False	3	100;0;0	9.382	False		ENSG00000171853	ENSG00000171853	HGNC:24284													
TRAPPC4	gene	TRAPPC4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741				31794024		False	3	100;0;0	9.382	False		ENSG00000196655	ENSG00000196655	HGNC:19943													
TRAPPC6B	gene	TRAPPC6B	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862				28626029;28397838;31687267		False	3	50;50;0	9.382	False		ENSG00000182400	ENSG00000182400	HGNC:23066													
TRAPPC9	gene	TRAPPC9	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 13, OMIM:613192				20004763;20004764;20004765;21629298;22549410;22989526;29031008;30853973		False	3	100;0;0	9.382	False		ENSG00000167632	ENSG00000167632	HGNC:30832													
TREX1	gene	TREX1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 1, dominant and recessive, 225750Chilblain lupus, 610448Vasculopathy, retinal, with cerebral leukodystrophy, 192315{Systemic lupus erythematosus, susceptibility to}, 152700;AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE						False	3	100;0;0	9.382	False		ENSG00000213689	ENSG00000213689	HGNC:12269													
TRIM8	gene	TRIM8	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Global developmental delay;Intellectual disability;Seizures				30244534;27346735;23934111		False	3	100;0;0	9.382	False		ENSG00000171206	ENSG00000171206	HGNC:15579													
TRIO	gene	TRIO	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061;Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825				26721934;27418539;32109419		False	3	100;0;0	9.382	False		ENSG00000038382	ENSG00000038382	HGNC:12303													
TRIP12	gene	TRIP12	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Mental retardation, autosomal dominant 49	617752"						False	3	100;0;0	9.382	False		ENSG00000153827	ENSG00000153827	HGNC:12306													
TRIT1	gene	TRIT1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 35, OMIM:617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742				28185376; 24901367		False	3	100;0;0	9.382	False		ENSG00000043514	ENSG00000043514	HGNC:20286													
TRMT1	gene	TRMT1	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	autosomal recessive intellectual disorder;ARID;Mental retardation, autosomal recessive 68, 618302;Global developmental delay;Intellectual disability				21937992;26308914;30289604;28784718		False	3	25;25;50	9.382	False		ENSG00000104907	ENSG00000104907	HGNC:25980													
TRMT10A	gene	TRMT10A	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, short stature, and impaired glucose metabolism 1, 616033;Young onset diabetes, short stature and microcephaly with intellectual disability				26535115; 26526202; 24204302; 25053765; 26297882		False	3	100;0;0	9.382	False		ENSG00000145331	ENSG00000145331	HGNC:28403													
TRMT5	gene	TRMT5	Expert list;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539				35342985;26189817;29021354		False	3	100;0;0	9.382	False		ENSG00000126814	ENSG00000126814	HGNC:23141													
TRNT1	gene	TRNT1	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084				25193871;23553769;29170023;25652405;27370603		False	3	100;0;0	9.382	False		ENSG00000072756	ENSG00000072756	HGNC:17341													
TRPM3	gene	TRPM3	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224				31278393;32439617;32343227;32427099		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000083067	ENSG00000083067	HGNC:17992													
TRRAP	gene	TRRAP	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microcephaly;Seizures;Abnormal heart morphology;Autism;Developmental delay with or without dysmorphic facies and autism, 603015;Intellectual disability;Abnormality of the urinary system;Global developmental delay				30827496;30424743		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000196367	ENSG00000196367	HGNC:12347													
TSC1	gene	TSC1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis-1, 191100Lymphangioleiomyomatosis, 606690;Focal cortical dysplasia, Taylor balloon cell type, 607341;TUBEROUS SCLEROSIS TYPE 1 (TSC1)				28215400;19175396;16114042;12112044		False	3	100;0;0	9.382	False		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis-2, 613254Lymphangioleiomyomatosis, somatic, 606690;LYMPHANGIOLEIOMYOMATOSIS (LAM)				25529582;24896178		False	3	100;0;0	9.382	False		ENSG00000103197	ENSG00000103197	HGNC:12363													
TSEN2	gene	TSEN2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4				0		False	3	100;0;0	9.382	False		ENSG00000154743	ENSG00000154743	HGNC:28422													
TSEN34	gene	TSEN34	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2C, OMIM:612390;pontocerebellar hypoplasia type 2C, MONDO:0012891				20952379;27370523;32476018;37544645		False	3	67;33;0	9.382	False		ENSG00000170892	ENSG00000170892	HGNC:15506													
TSEN54	gene	TSEN54	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Pontocerebellar hypoplasia type 5, OMIM:610204;Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753				16470708;20956791;20952379		False	3	100;0;0	9.382	False		ENSG00000182173	ENSG00000182173	HGNC:27561													
TSFM	gene	TSFM	Expert Review;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 3 610505						False	3	100;0;0	9.382	False		ENSG00000123297	ENSG00000123297	HGNC:12367													
TSHB	gene	TSHB	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4				2792087		False	3	33;67;0	9.382	False		ENSG00000134200	ENSG00000134200	HGNC:12372													
TSPOAP1	gene	TSPOAP1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia, intellectual disability and cerebellar atrophy				33539324		False	3	100;0;0	9.382	False		ENSG00000005379	ENSG00000005379	HGNC:16831													
TTC19	gene	TTC19	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MITOCHONDRIAL COMPLEX III DEFICIENCY				0		False	3	33;67;0	9.382	False		ENSG00000011295	ENSG00000011295	HGNC:26006													
TTC37	gene	TTC37	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichohepatoenteric syndrome 1, 222470						False	3	100;0;0	9.382	False		ENSG00000198677	ENSG00000198677	HGNC:23639													
TTC5	gene	TTC5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244				29302074;32439809		False	3	100;0;0	9.382	False		ENSG00000136319	ENSG00000136319	HGNC:19274													
TTC8	gene	TTC8	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 8, 209900Retinitis pigmentosa 51, 613464;RETINITIS PIGMENTOSA TYPE 51 (RP51)						False	3	100;0;0	9.382	False		ENSG00000165533	ENSG00000165533	HGNC:20087													
TTI1	gene	TTI1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445				36724785		False	3	100;0;0	9.382	False		ENSG00000101407	ENSG00000101407	HGNC:29029													
TTI2	gene	TTI2	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	AUTOSOMAL RECESSIVE MENTAL RETARDATION;Mental retardation, autosomal recessive 39, 615541				21937992;23956177		False	3	100;0;0	9.382	False		ENSG00000129696	ENSG00000129696	HGNC:26262													
TUBA1A	gene	TUBA1A	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lissencephaly 3, 611603;INTELLECTUAL DISABILITY						False	3	100;0;0	9.382	False		ENSG00000167552	ENSG00000167552	HGNC:20766													
TUBB	gene	TUBB	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6				23246003		False	3	33;67;0	9.382	False		ENSG00000196230	ENSG00000196230	HGNC:20778													
TUBB2A	gene	TUBB2A	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763;Complex cortical dysplasia with other brain malformations 5, MONDO:0014337				24702957;32571897		False	3	50;50;0	9.382	False		ENSG00000137267	ENSG00000137267	HGNC:12412													
TUBB2B	gene	TUBB2B	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031						False	3	100;0;0	9.382	False		ENSG00000137285	ENSG00000137285	HGNC:30829													
TUBB3	gene	TUBB3	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES				20074521		False	3	0;100;0	9.382	False		ENSG00000258947	ENSG00000258947	HGNC:20772													
TUBB4A	gene	TUBB4A	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC)				23582646		False	3	33;67;0	9.382	False		ENSG00000104833	ENSG00000104833	HGNC:20774													
TUBG1	gene	TUBG1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cortical dysplasia, complex, with other brain malformations 4, 615412				23603762;24860126;27010057;29706637;31151415		False	3	100;0;0	9.382	False		ENSG00000131462	ENSG00000131462	HGNC:12417													
TUBGCP2	gene	TUBGCP2	Expert list;Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737				31630790;40017707		False	3	100;0;0	9.382	False		ENSG00000130640	ENSG00000130640	HGNC:18599													
TUBGCP6	gene	TUBGCP6	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION				22279524		False	3	100;0;0	9.382	False		ENSG00000128159	ENSG00000128159	HGNC:18127													
TUSC3	gene	TUSC3	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 7, OMIM:611093				18452889;18455129;21739581;27148795		False	3	100;0;0	9.382	False		ENSG00000104723	ENSG00000104723	HGNC:30242													
TWIST1	gene	TWIST1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SAETHRE-CHOTZEN SYNDROME				17343269		False	3	33;67;0	9.382	False		ENSG00000122691	ENSG00000122691	HGNC:12428													
U2AF2	gene	U2AF2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				28135719;31785789;33057194;34112922;36747105;37092751;37134193		False	3	75;25;0	9.382	False		ENSG00000063244	ENSG00000063244	HGNC:23156													
UBA5	gene	UBA5	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 44, 617132;Intellectual disability				25529582;27545674;27545681		False	3	100;0;0	9.382	False		ENSG00000081307	ENSG00000081307	HGNC:23230													
UBAP2L	gene	UBAP2L	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494				35977029		False	3	100;0;0	9.382	False		ENSG00000143569	ENSG00000143569	HGNC:29877													
UBE2A	gene	UBE2A	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Nascimento-type, 300860;UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION						False	3	100;0;0	9.382	False		ENSG00000077721	ENSG00000077721	HGNC:12472													
UBE3A	gene	UBE3A	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Angelman syndrome, 105830;ANGELMAN SYNDROME						False	3	100;0;0	9.382	False		ENSG00000114062	ENSG00000114062	HGNC:12496													
UBE3B	gene	UBE3B	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	BLEPHAROPHIMOSIS-MENTAL RETARDATION				21567902;23200864		False	3	100;0;0	9.382	False		ENSG00000151148	ENSG00000151148	HGNC:13478													
UBE4A	gene	UBE4A	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability				33420346		False	3	100;0;0	9.382	False		ENSG00000110344	ENSG00000110344	HGNC:12499													
UBR1	gene	UBR1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Johanson-Blizzard syndrome, 243800;JOHANSON-BLIZZARD SYNDROME (JBS)						False	3	100;0;0	9.382	False		ENSG00000159459	ENSG00000159459	HGNC:16808													
UBR5	gene	UBR5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	complex neurodevelopmental disorder, MONDO:0100038				39721588		False	3	100;0;0	9.382	False		ENSG00000104517	ENSG00000104517	HGNC:16806													
UBR7	gene	UBR7	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;epilepsy;hypothyroidism;congenital anomalies;dysmorphic features				21937992;33340455		False	3	25;0;75	9.382	False		ENSG00000012963	ENSG00000012963	HGNC:20344													
UBTF	gene	UBTF	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672				28777933;29300972;30517966;31931739;33026538		False	3	33;0;67	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000108312	ENSG00000108312	HGNC:12511													
UFM1	gene	UFM1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	global developmental delay with progressive microcephaly;Leukodystrophy hypomyelinating 14, 617899;Leukodystrophy, hypomyelinating, 14, 617899				28931644;29868776;30914295		False	3	100;0;0	9.382	False		ENSG00000120686	ENSG00000120686	HGNC:20597													
UFSP2	gene	UFSP2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Abnormal muscle tone;Seizures;Global developmental delay;Delayed speech and language development;Intellectual disability;Strabismus				33473208		False	3	100;0;0	9.382	False		ENSG00000109775	ENSG00000109775	HGNC:25640													
UGDH	gene	UGDH	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 84 - MIM #618792				32001716		False	3	100;0;0	9.382	False		ENSG00000109814	ENSG00000109814	HGNC:12525													
UGGT1	gene	UGGT1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	congenital disorder of glycosylation, MONDO:0015286				40267907		False	3	100;0;0	9.382	False		ENSG00000136731	ENSG00000136731	HGNC:15663													
UGP2	gene	UGP2	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 83, OMIM:618744				31820119		False	3	100;0;0	9.382	False		ENSG00000169764	ENSG00000169764	HGNC:12527													
UMPS	gene	UMPS	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	OROTIC ACIDURIA TYPE 1 (ORAC1)				9042911		False	3	33;67;0	9.382	False		ENSG00000114491	ENSG00000114491	HGNC:12563													
UNC13A	gene	UNC13A	Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, OMIM:621456;Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455;?Intellectual development disorder with seizures and dysmorphic facies , OMIM:621457				28192369;39634123;41125872		False	3	50;25;25	9.382	False		ENSG00000130477	ENSG00000130477	HGNC:23150													
UNC80	gene	UNC80	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801				26708751;26708753;26545877;29572195		False	3	100;0;0	9.382	False		ENSG00000144406	ENSG00000144406	HGNC:26582													
UPF1	gene	UPF1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				28135719;28539120;33057194;39571789;39993774		False	3	75;25;0	9.382	False		ENSG00000005007	ENSG00000005007	HGNC:9962													
UPF3B	gene	UPF3B	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental Retardation, X-linked;Mental retardation, X-linked, syndromic 14, 300676;MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 (MRXS14)						False	3	100;0;0	9.382	False		ENSG00000125351	ENSG00000125351	HGNC:20439													
UROC1	gene	UROC1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Urocanase deficiency , OMIM:276880;urocanic aciduria, MONDO:0010167				19304569;25529582;27391121;30619714;32439973		False	3	25;50;25	9.382	False		ENSG00000159650	ENSG00000159650	HGNC:26444													
USP7	gene	USP7	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hao-Fountain syndrome, 616863				19946331;26365382;30679821;33012787		False	3	100;0;0	9.382	False		ENSG00000187555	ENSG00000187555	HGNC:12630													
USP9X	gene	USP9X	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked 99 300919 XLR;Mental retardation, X-linked 99, syndromic, female-restricted 300968				24607389		False	3	100;0;0	9.382	False		ENSG00000124486	ENSG00000124486	HGNC:12632													
VAMP2	gene	VAMP2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cortical visual impairment;Seizures;Stereotypic behavior;Generalized hypotonia;Intellectual disability;Abnormality of movement;Global developmental delay;Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment;Autistic behavior				30929742		False	3	100;0;0	9.382	False		ENSG00000220205	ENSG00000220205	HGNC:12643													
VARS	gene	VARS	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	NDMSCA;Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802;# 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY				26539891;30275004;29691655		False	3	100;0;0	9.382	False		ENSG00000204394	ENSG00000204394	HGNC:12651													
VARS2	gene	VARS2	Expert list;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 20, OMIM #615917				24827421;25058219;29137650;29314548;31064326		False	3	100;0;0	9.382	False		ENSG00000137411	ENSG00000137411	HGNC:21642													
VCP	gene	VCP	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				37883978		False	3	100;0;0	9.382	False		ENSG00000165280	ENSG00000165280	HGNC:12666													
VLDLR	gene	VLDLR	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050;CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 (CMARQ1)						False	3	100;0;0	9.382	False		ENSG00000147852	ENSG00000147852	HGNC:12698													
VPS11	gene	VPS11	Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 12, 616683;Leukodystrophy, hypomyelinating, 12 (MIM 616683)				27473128;26307567;27120463		False	3	100;0;0	9.382	False		ENSG00000160695	ENSG00000160695	HGNC:14583													
VPS13B	gene	VPS13B	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cohen syndrome, 216550;COHEN SYNDROME						False	3	100;0;0	9.382	False		ENSG00000132549	ENSG00000132549	HGNC:2183													
VPS33A	gene	VPS33A	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis-plus syndrome, OMIM:617303;mucopolysaccharidosis-plus syndrome, MONDO:0015012				27547915;28013294;31070736;39273517		False	3	100;0;0	9.382	False		ENSG00000139719	ENSG00000139719	HGNC:18179													
VPS41	gene	VPS41	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia;Intellectual disability				32808683;33764426;33851776		False	3	100;0;0	9.382	False		ENSG00000006715	ENSG00000006715	HGNC:12713													
VPS4A	gene	VPS4A	Expert Review Green;Literature;Research	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CIMDAG syndrome				33186545;33186543;33460484		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000132612	ENSG00000132612	HGNC:13488													
VPS53	gene	VPS53	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 2E, 615851;Progressive cerebello-cerebral atrophy;intellectual disability;developmental delay				24577744;2920088		False	3	0;100;0	9.382	False		ENSG00000141252	ENSG00000141252	HGNC:25608													
VRK1	gene	VRK1	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 1A, 607596;PONTOCEREBELLAR HYPOPLASIA TYPE 1						False	3	100;0;0	9.382	False		ENSG00000100749	ENSG00000100749	HGNC:12718													
WAC	gene	WAC	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Paper out in august				0		False	3	100;0;0	9.382	False		ENSG00000095787	ENSG00000095787	HGNC:17327													
WARS	gene	WARS	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, OMIM:620317;neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, MONDO:0957218				34585293;35790048;35815345		False	3	100;0;0	9.382	False		ENSG00000140105	ENSG00000140105	HGNC:12729													
WARS2	gene	WARS2	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710				29783990;28236339;29120065;28650581;28905505		False	3	100;0;0	9.382	False		ENSG00000116874	ENSG00000116874	HGNC:12730													
WASF1	gene	WASF1	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with absent language and variable seizures, 618707;ID associated with autistic features, seizures, and developmental delay;intellectual disability				29961568		False	3	100;0;0	9.382	False		ENSG00000112290	ENSG00000112290	HGNC:12732													
WBP4	gene	WBP4	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852;neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MONDO:0971043				37963460		False	3	100;0;0	9.382	False		ENSG00000120688	ENSG00000120688	HGNC:12739													
WDFY3	gene	WDFY3	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly 18, primary, autosomal dominant, 617520				27008544;31327001;25198012;28191889		False	3	100;0;0	9.382	False		ENSG00000163625	ENSG00000163625	HGNC:20751													
WDPCP	gene	WDPCP	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	BARDET-BIEDL SYNDROME TYPE 15 (BBS15)				0		False	3	33;67;0	9.382	False		ENSG00000143951	ENSG00000143951	HGNC:28027													
WDR26	gene	WDR26	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Skraban-Deardorff syndrome;617616;intellectual disability				28686853;28921851		False	3	100;0;0	9.382	False		ENSG00000162923	ENSG00000162923	HGNC:21208													
WDR37	gene	WDR37	Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurooculocardiogenitourinary syndrome, OMIM:618652				31327510;31327508		False	3	100;0;0	9.382	False	Other	ENSG00000047056	ENSG00000047056	HGNC:31406													
WDR4	gene	WDR4	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 6, OMIM:61834;Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347				29597095;26416026;28617965;30079490		False	3	100;0;0	9.382	False		ENSG00000160193	ENSG00000160193	HGNC:12756													
WDR45	gene	WDR45	Expert Review Green;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Neurodegeneration with brain iron accululation 5, 300894;NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA)						False	3	100;0;0	9.382	False		ENSG00000196998	ENSG00000196998	HGNC:28912													
WDR45B	gene	WDR45B	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977				21937992;28503735;27431290		False	3	0;0;100	9.382	False		ENSG00000141580	ENSG00000141580	HGNC:25072													
WDR47	gene	WDR47	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				39609633		False	3	100;0;0	9.382	False		ENSG00000085433	ENSG00000085433	HGNC:29141													
WDR5	gene	WDR5	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				36408368		False	3	100;0;0	9.382	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000196363	ENSG00000196363	HGNC:12757													
WDR62	gene	WDR62	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317				20890278;20729831;21834044;10573015;20890279;30500859		False	3	100;0;0	9.382	False		ENSG00000075702	ENSG00000075702	HGNC:24502													
WDR73	gene	WDR73	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME;Galloway-Mowat syndrome 1, 251300				25466283		False	3	33;67;0	9.382	False		ENSG00000177082	ENSG00000177082	HGNC:25928													
WDR81	gene	WDR81	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	cerebellar ataxia, intellectual disability and quadrupedal locomotion;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185				28972664; 21885617; 26437881; 28961333		False	3	25;0;75	9.382	False		ENSG00000167716	ENSG00000167716	HGNC:26600													
WDR83OS	gene	WDR83OS	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with variable familial hypercholanemia, OMIM:621016				30250217;39471804		False	3	75;0;25	9.382	False		ENSG00000105583	ENSG00000105583	HGNC:30203													
WIPI2	gene	WIPI2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453				30968111;34557665		False	3	100;0;0	9.382	False		ENSG00000157954	ENSG00000157954	HGNC:32225													
WNK3	gene	WNK3	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Prieto syndrome, OMIM:309610;Intellectual disability, MONDO:0001071				26350204;35678782		False	3	25;0;75	9.382	False		ENSG00000196632	ENSG00000196632	HGNC:14543													
WNT1	gene	WNT1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XV, 615220;{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221						False	3	100;0;0	9.382	False		ENSG00000125084	ENSG00000125084	HGNC:12774													
WWOX	gene	WWOX	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12				24456803		False	3	33;67;0	9.382	False		ENSG00000186153	ENSG00000186153	HGNC:12799													
XRCC4	gene	XRCC4	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Short stature, microcephaly, and endocrine dysfunction, OMIM:616541				25728776		False	3	33;67;0	9.382	False		ENSG00000152422	ENSG00000152422	HGNC:12831													
XYLT1	gene	XYLT1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343				23982343;24581741;22711505;30554721		False	3	100;0;0	9.382	False		ENSG00000103489	ENSG00000103489	HGNC:15516													
YIF1B	gene	YIF1B	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Kaya-Barakat-Masson syndrome, OMIM:619125				32006098		False	3	100;0;0	9.382	False		ENSG00000167645	ENSG00000167645	HGNC:30511													
YIPF5	gene	YIPF5	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278				33164986		False	3	100;0;0	9.382	False		ENSG00000145817	ENSG00000145817	HGNC:24877													
YWHAG	gene	YWHAG	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile 56, 617665;Intellectual disability				28777935;28135719;25363760;26297819;27288018		False	3	0;100;0	9.382	False		ENSG00000170027	ENSG00000170027	HGNC:12852													
YY1	gene	YY1	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Gabriele-de Vries syndrome	617557"				21076407;28575647		False	3	100;0;0	9.382	False		ENSG00000100811	ENSG00000100811	HGNC:12856													
ZBTB18	gene	ZBTB18	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	intellectual disability with variable features; global developmental delay; Mental retardation, autosomal dominant 22,  612337				28345786;27598823;24193349;23020937;26740508;25529582		False	3	50;0;50	9.382	False		ENSG00000179456	ENSG00000179456	HGNC:13030													
ZBTB20	gene	ZBTB20	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	PRIMROSE SYNDROME				25017102		False	3	33;67;0	9.382	False		ENSG00000181722	ENSG00000181722	HGNC:13503													
ZBTB24	gene	ZBTB24	Expert Review Green;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069;intellectual disability				21596365;22786748;23486536		False	3	100;0;0	9.382	False		ENSG00000112365	ENSG00000112365	HGNC:21143													
ZBTB47	gene	ZBTB47	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, MONDO;0700092				37743782		False	3	100;0;0	9.382	False		ENSG00000114853	ENSG00000114853	HGNC:26955													
ZBTB7A	gene	ZBTB7A	Expert Review Green;Literature;NHS GMS;Other	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769				31645653;34515416		False	3	75;25;0	9.382	False		ENSG00000178951	ENSG00000178951	HGNC:18078													
ZC4H2	gene	ZC4H2	Expert Review Green;NHS GMS	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Wieacker-Wolff syndrome, OMIM:314580;Wieacker-Wolff syndrome, female-restricted, OMIM:301041				23623388;1915520;4039531		False	3	100;0;0	9.382	False		ENSG00000126970	ENSG00000126970	HGNC:24931													
ZDHHC9	gene	ZDHHC9	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Raymond type, OMIM:300799						False	3	100;0;0	9.382	False		ENSG00000188706	ENSG00000188706	HGNC:18475													
ZEB2	gene	ZEB2	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mowat-Wilson syndrome, 235730;MOWAT-WILSON SYNDROME (MWIS)						False	3	100;0;0	9.382	False		ENSG00000169554	ENSG00000169554	HGNC:14881													
ZFHX3	gene	ZFHX3	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	syndromic intellectual disability				38412861;38035881;37292950		False	3	100;0;0	9.382	False		ENSG00000140836	ENSG00000140836	HGNC:777													
ZFHX4	gene	ZFHX4	Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental disorders;intellectual disability, dysmorphic features				26350204;21802062;33057194;24038936;39148819		False	3	25;0;75	9.382	False		ENSG00000091656	ENSG00000091656	HGNC:30939													
ZFX	gene	ZFX	Expert Review Green;NHS GMS	Intellectual disability		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 syndromic 37, OMIM:301118				26350204;26740508;38325380		False	3	50;0;50	9.382	False		ENSG00000005889	ENSG00000005889	HGNC:12869													
ZFYVE26	gene	ZFYVE26	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 15, autosomal recessive, OMIM:270700				19805727;17661097;18098276;11342696		False	3	100;0;0	9.382	False		ENSG00000072121	ENSG00000072121	HGNC:20761													
ZIC1	gene	ZIC1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736;?Craniosynostosis 6, 616602				26340333;30391508		False	3	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000152977	ENSG00000152977	HGNC:12872													
ZIC2	gene	ZIC2	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly-5, 609637;HOLOPROSENCEPHALY						False	3	100;0;0	9.382	False		ENSG00000043355	ENSG00000043355	HGNC:12873													
ZMIZ1	gene	ZMIZ1	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Abnormality of head or neck;Microcephaly;Abnormality of the cardiovascular system;Abnormality of the skeletal system;Feeding difficulties;Intellectual disability;Global developmental delay;Abnormality of the urinary system;Growth abnormality;Global developmental delay, Intellectual disability, Feeding difficulties, Growth abnormality, Microcephaly, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the cardiovascular system, Abnormality of head or neck				29754769;18053775;17967885;30639322;26163108;27479843		False	3	100;0;0	9.382	False		ENSG00000108175	ENSG00000108175	HGNC:16493													
ZMYM2	gene	ZMYM2	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522				32891193		False	3	75;25;0	9.382	False		ENSG00000121741	ENSG00000121741	HGNC:12989													
ZMYM3	gene	ZMYM3	Expert Review Green;NHS GMS	Intellectual disability		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 112, OMIM:301111				26350204;24721225;8817323;36586412		False	3	40;0;60	9.382	False		ENSG00000147130	ENSG00000147130	HGNC:13054													
ZMYND11	gene	ZMYND11	Expert Review Green;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	INTELLECTUAL DISABILITY				25217958;25281490		False	3	100;0;0	9.382	False		ENSG00000015171	ENSG00000015171	HGNC:16966													
ZMYND8	gene	ZMYND8	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Delayed speech and language development;Motor delay;Intellectual disability;Abnormality of cardiovascular system morphology;Hearing abnormality;Abnormality of vision;Abnormality of the face;Seizures				35916866;32530565		False	3	100;0;0	9.382	False		ENSG00000101040	ENSG00000101040	HGNC:9397													
ZNF142	gene	ZNF142	Expert Review;Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seizures;Dystonia;Intellectual disability;Global developmental delay;Tremor;Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425				31036918		False	3	100;0;0	9.382	False		ENSG00000115568	ENSG00000115568	HGNC:12927													
ZNF292	gene	ZNF292	Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder, autosomal dominant 64, OMIM:619188;intellectual developmental disorder, autosomal dominant 64, MONDO:0030934				31723249;29904178		False	3	100;0;0	9.382	False		ENSG00000188994	ENSG00000188994	HGNC:18410													
ZNF335	gene	ZNF335	Expert Review Green;NHS GMS;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 10, primary, autosomal recessive, 615095				23178126;27540107;29652087;30500859;31187448		False	3	67;33;0	9.382	False		ENSG00000198026	ENSG00000198026	HGNC:15807													
ZNF462	gene	ZNF462	Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Prominent metopic ridge;Ptosis;Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior;Intellectual disability;Global developmental delay;Craniosynostosis;Autistic behavior				28513610;12825074;29427787;14564155		False	3	0;100;0	9.382	False		ENSG00000148143	ENSG00000148143	HGNC:21684													
ZNF526	gene	ZNF526	Expert Review Green	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;Microcephaly;Cataracts;Epilepsy;Hypertonia;Dystonia				21937992;25558065;33397746		False	3	25;0;75	9.382	False		ENSG00000167625	ENSG00000167625	HGNC:29415													
ZNF699	gene	ZNF699	Expert Review Green;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	DEGCAGS syndrome, OMIM:619488				33875846		False	3	100;0;0	9.382	False		ENSG00000196110	ENSG00000196110	HGNC:24750													
ZNF711	gene	ZNF711	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental Retardation, X-linked;Mental retardation, X-linked 97, 300803;MENTAL RETARDATION X-LINKED ZNF711-RELATED (MRXZ)						False	3	100;0;0	9.382	False		ENSG00000147180	ENSG00000147180	HGNC:13128													
ZNFX1	gene	ZNFX1	Expert Review Green;Literature;NHS GMS	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 91 and hyperinflammation, OMIM:619644;immunodeficiency 91 and hyperinflammation, MONDO:0030491				33876776;33872655		False	3	100;0;0	9.382	False		ENSG00000124201	ENSG00000124201	HGNC:29271													
ZSWIM6	gene	ZSWIM6	Expert Review Green;Other	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acromelic frontonasal dysostosis, 603671;Includes mental retardation;acromelic frontonasal dysostosis with severe intellectual disability				25105228;26706854		False	3	0;100;0	9.382	False		ENSG00000130449	ENSG00000130449	HGNC:29316													
ABI2	gene	ABI2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability, MONDO:0001071;neurodevelopmental disorder, MONDO:0700092				28397838;39774290;40475134		False	2	50;0;50	9.382	False		ENSG00000138443	ENSG00000138443	HGNC:24011													
ACADSB	gene	ACADSB	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	2-methylbutyrylglycinuria, 610006						False	2	0;100;0	9.382	False		ENSG00000196177	ENSG00000196177	HGNC:91													
ACADVL	gene	ACADVL	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	VLCAD deficiency, 201475						False	2	100;0;0	9.382	False		ENSG00000072778	ENSG00000072778	HGNC:92													
ACAT1	gene	ACAT1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000075239	ENSG00000075239	HGNC:93													
ACP5	gene	ACP5	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spondyloenchondrodysplasia with immune dysregulation, 607944 						False	2	100;0;0	9.382	False		ENSG00000102575	ENSG00000102575	HGNC:124													
ACTA2	gene	ACTA2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False	Other - please provide details in the comments	ENSG00000107796	ENSG00000107796	HGNC:130													
ACVR1	gene	ACVR1	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fibrodysplasia ossificans progressiva 135100						False	2	0;33;67	9.382	False		ENSG00000115170	ENSG00000115170	HGNC:171													
ADA	gene	ADA	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000196839	ENSG00000196839	HGNC:186													
ADAMTS10	gene	ADAMTS10	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Weill-Marchesani syndrome 1, recessive, MIM#277600						False	2	0;100;0	9.382	False		ENSG00000142303	ENSG00000142303	HGNC:13201													
ADCY5	gene	ADCY5	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000173175	ENSG00000173175	HGNC:236													
ADPRHL2	gene	ADPRHL2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000116863	ENSG00000116863	HGNC:21304													
AGAP1	gene	AGAP1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cerebral palsy				31700678;25666757;30472483		False	2	0;100;0	9.382	False		ENSG00000157985	ENSG00000157985	HGNC:16922													
AGMO	gene	AGMO	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	microcephaly;intellectual disability;epilepsy;developmental delay				31555905;27000257		False	2	100;0;0	9.382	False		ENSG00000187546	ENSG00000187546	HGNC:33784													
AGPAT3	gene	AGPAT3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				37821758		False	2	0;100;0	9.382	False		ENSG00000160216	ENSG00000160216	HGNC:326													
AGPS	gene	AGPS	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 3, 600121				7807941;11152660;11152660;21990100		False	2	20;60;20	9.382	False		ENSG00000018510	ENSG00000018510	HGNC:327													
AGXT	gene	AGXT	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperoxaluria, primary, type 1, 259900						False	2	100;0;0	9.382	False		ENSG00000172482	ENSG00000172482	HGNC:341													
AIMP2	gene	AIMP2	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		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	9.382	False		ENSG00000106305	ENSG00000106305	HGNC:20609													
AIPL1	gene	AIPL1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 4, 604393;Retinitis pigmentosa, juvenile, 604393;Cone-rod dystrophy, 604393						False	2	100;0;0	9.382	False		ENSG00000129221	ENSG00000129221	HGNC:359													
AIRE	gene	AIRE	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000160224	ENSG00000160224	HGNC:360													
AK2	gene	AK2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	NA						False	2	100;0;0	9.382	False		ENSG00000004455	ENSG00000004455	HGNC:362													
AKR1D1	gene	AKR1D1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bile acid synthesis defect, congenital, 2, 235555						False	2	100;0;0	9.382	False		ENSG00000122787	ENSG00000122787	HGNC:388													
AKT1	gene	AKT1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cowden syndrome 6 OMIM:164730				25529582		False	2	50;50;0	9.382	False	Other - please provide details in the comments 	ENSG00000142208	ENSG00000142208	HGNC:391													
ALAD	gene	ALAD	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Porphyria, acute hepatic, 612740; {Lead poisoning, susceptibility to}, 612740						False	2	100;0;0	9.382	False	Other - please provide details in the comments 	ENSG00000148218	ENSG00000148218	HGNC:395													
ALDOA	gene	ALDOA	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False	Other - please provide details in the comments 	ENSG00000149925	ENSG00000149925	HGNC:414													
ALG14	gene	ALG14	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Intellectual disability				30221345;23404334;28733338		False	2	100;0;0	9.382	False		ENSG00000172339	ENSG00000172339	HGNC:28287													
ALPL	gene	ALPL	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False	Other - please provide details in the comments 	ENSG00000162551	ENSG00000162551	HGNC:438													
ALX3	gene	ALX3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000156150	ENSG00000156150	HGNC:449													
ALX4	gene	ALX4	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000052850	ENSG00000052850	HGNC:450													
ANKS1B	gene	ANKS1B	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	complex neurodevelopmental disorder, MONDO:0100038				31388001;38129387		False	2	50;50;0	9.382	False		ENSG00000185046	ENSG00000185046	HGNC:24600													
ANO5	gene	ANO5	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False	Other - please provide details in the comments 	ENSG00000171714	ENSG00000171714	HGNC:27337													
ANTXR1	gene	ANTXR1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	{Hemangioma, capillary infantile, susceptibility to}, 602089; GAPO syndrome, 230740						False	2	100;0;0	9.382	False		ENSG00000169604	ENSG00000169604	HGNC:21014													
AP1B1	gene	AP1B1	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000100280	ENSG00000100280	HGNC:554													
AP2S1	gene	AP2S1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental disorder				33057194		False	2	0;100;0	9.382	False		ENSG00000042753	ENSG00000042753	HGNC:565													
ARHGAP35	gene	ARHGAP35	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental disorder				33057194		False	2	0;100;0	9.382	False		ENSG00000160007	ENSG00000160007	HGNC:4591													
ARHGEF40	gene	ARHGEF40	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	developmental delay				39838643		False	2	0;100;0	9.382	False		ENSG00000165801	ENSG00000165801	HGNC:25516													
ARL14EP	gene	ARL14EP	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	AUTOSOMAL RECESSIVE MENTAL RETARDATION				21937992		False	2	0;33;67	9.382	False		ENSG00000152219	ENSG00000152219	HGNC:26798													
ARMC4	gene	ARMC4	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 23, 615451 						False	2	100;0;0	9.382	False		ENSG00000169126	ENSG00000169126	HGNC:25583													
ASTN1	gene	ASTN1	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				29706646;27431290;26539891;41544630		False	2	67;33;0	9.382	False		ENSG00000152092	ENSG00000152092	HGNC:773													
ATG12	gene	ATG12	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000145782	ENSG00000145782	HGNC:588													
ATG4D	gene	ATG4D	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				36765070		False	2	50;50;0	9.382	False		ENSG00000130734	ENSG00000130734	HGNC:20789													
ATOH1	gene	ATOH1	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000172238	ENSG00000172238	HGNC:797													
ATP11A	gene	ATP11A	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder				34403372;39432785		False	2	0;100;0	9.382	False		ENSG00000068650	ENSG00000068650	HGNC:13552													
ATP6AP1	gene	ATP6AP1	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Immunodeficiency 47, MIM#300972				27231034		False	2	50;50;0	9.382	False		ENSG00000071553	ENSG00000071553	HGNC:868													
ATXN2L	gene	ATXN2L	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;Macrocephaly				33283965;33057194		False	2	0;100;0	9.382	False		ENSG00000168488	ENSG00000168488	HGNC:31326													
B3GALT6	gene	B3GALT6	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000176022	ENSG00000176022	HGNC:17978													
B4GALT1	gene	B4GALT1	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IId, OMIM:607091				11901181;21920538;30653653;32157688		False	2	0;40;60	9.382	False		ENSG00000086062	ENSG00000086062	HGNC:924													
BAIAP2	gene	BAIAP2	Expert Review Amber;Other	Intellectual disability		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	9.382	False		ENSG00000175866	ENSG00000175866	HGNC:947													
BCORL1	gene	BCORL1	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000085185	ENSG00000085185	HGNC:25657													
BHLHE22	gene	BHLHE22	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Neurodevelopmental disorder, MONDO:0700092				39502664		False	2	100;0;0	9.382	False		ENSG00000180828	ENSG00000180828	HGNC:11963													
BORCS5	gene	BORCS5	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	arthrogryposis multiplex congenita, MONDO:0015168;neurodevelopmental disorder, MONDO:0700092				27435318;40385417;40621786		False	2	100;0;0	9.382	False		ENSG00000165714	ENSG00000165714	HGNC:17950													
BRF2	gene	BRF2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042;intellectual disability, MONDO:0001071				40229899;40781771		False	2	100;0;0	9.382	False		ENSG00000104221	ENSG00000104221	HGNC:17298													
BRSK1	gene	BRSK1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder, MONDO:0700092				41035394		False	2	0;100;0	9.382	False		ENSG00000160469	ENSG00000160469	HGNC:18994													
BSN	gene	BSN	Expert Review Amber;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				36600631;39616287;40393460		False	2	100;0;0	9.382	False		ENSG00000164061	ENSG00000164061	HGNC:1117													
BSND	gene	BSND	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000162399	ENSG00000162399	HGNC:16512													
C16orf62	gene	C16orf62	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	3C/Ritscher-Schinzel-like syndrome				25434475;31712251		False	2	0;100;0	9.382	False		ENSG00000103544	ENSG00000103544	HGNC:24641													
C8orf37	gene	C8orf37	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 64, 614500;Cone-rod dystrophy 16, 614500						False	2	100;0;0	9.382	False		ENSG00000156172	ENSG00000156172	HGNC:27232													
CACNA2D2	gene	CACNA2D2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000007402	ENSG00000007402	HGNC:1400													
CACNB4	gene	CACNB4	Expert Review Amber;NHS GMS	Intellectual disability		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	9.382	False		ENSG00000182389	ENSG00000182389	HGNC:1404													
CAMK2G	gene	CAMK2G	Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 59, 618522				26350204;24896178;23033978;30184290		False	2	0;25;75	9.382	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	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	intellectual disability				32338762		False	2	0;100;0	9.382	False		ENSG00000198898	ENSG00000198898	HGNC:1490													
CARS2	gene	CARS2	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 27 616672				25361775;25787132;30139652;32571458;32348839		False	2	50;50;0	9.382	False		ENSG00000134905	ENSG00000134905	HGNC:25695													
CASR	gene	CASR	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypocalciuric hypercalcemia, type I, 145980				21667241;  27390877; 		False	2	50;50;0	9.382	False		ENSG00000036828	ENSG00000036828	HGNC:1514													
CCDC186	gene	CCDC186	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	failure to thrive and developmental delay				33259146;28600779		False	2	0;100;0	9.382	False		ENSG00000165813	ENSG00000165813	HGNC:24349													
CCNK	gene	CCNK	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000090061	ENSG00000090061	HGNC:1596													
CCT3	gene	CCT3	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000163468	ENSG00000163468	HGNC:1616													
CCT8	gene	CCT8	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CCT8-related neurodevelopmental disorder with brain abnormalities				39480921		False	2	0;100;0	9.382	False		ENSG00000156261	ENSG00000156261	HGNC:1623													
CD96	gene	CD96	Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	C syndrome, 211750				17847009		False	2	0;100;0	9.382	False		ENSG00000153283	ENSG00000153283	HGNC:16892													
CDC42BPB	gene	CDC42BPB	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000198752	ENSG00000198752	HGNC:1738													
CDKN1C	gene	CDKN1C	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000129757	ENSG00000129757	HGNC:1786													
CELF4	gene	CELF4	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				40108438		False	2	50;50;0	9.382	False		ENSG00000101489	ENSG00000101489	HGNC:14015													
CELSR3	gene	CELSR3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				38429302		False	2	100;0;0	9.382	False		ENSG00000008300	ENSG00000008300	HGNC:3230													
CEP295	gene	CEP295	Expert Review;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 11, OMIM:620767				38154379		False	2	50;50;0	9.382	False		ENSG00000166004	ENSG00000166004	HGNC:29366													
CEP63	gene	CEP63	Expert Review Amber	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	?Seckel syndrome 6 614728; Developmental dyslexia				21983783; 26400686		False	2	0;100;0	9.382	False		ENSG00000182923	ENSG00000182923	HGNC:25815													
CHD1	gene	CHD1	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pilarowski-Bjornsson syndrome, MIM#617682				28866611		False	2	100;0;0	9.382	False	Other	ENSG00000153922	ENSG00000153922	HGNC:1915													
CHL1	gene	CHL1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	verbal function and developmental delay				24896178; 26350204; 27708271; 27933663; 25451713 		False	2	0;33;67	9.382	False		ENSG00000134121	ENSG00000134121	HGNC:1939													
CHRM1	gene	CHRM1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental delay;intellectual disability, MONDO:0001071;autism				34212451;31981491;12483218		False	2	0;100;0	9.382	False		ENSG00000168539	ENSG00000168539	HGNC:1950													
CHST14	gene	CHST14	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000169105	ENSG00000169105	HGNC:24464													
CLCN2	gene	CLCN2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with ataxia, OMIM:615651				23707145;26539602;28473625;31291907		False	2	100;0;0	9.382	False		ENSG00000114859	ENSG00000114859	HGNC:2020													
CNPY3	gene	CNPY3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 60 (MIM 617929)				29394991;30237576		False	2	100;0;0	9.382	False		ENSG00000137161	ENSG00000137161	HGNC:11968													
COG3	gene	COG3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIbb, OMIM:620546				37711075		False	2	0;100;0	9.382	False		ENSG00000136152	ENSG00000136152	HGNC:18619													
COPB1	gene	COPB1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Baralle-Macken syndrome, OMIM:619255;Severe intellectual disability;Cataracts;Variable microcephaly				33632302		False	2	0;100;0	9.382	False		ENSG00000129083	ENSG00000129083	HGNC:2231													
COQ5	gene	COQ5	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000110871	ENSG00000110871	HGNC:28722													
COQ9	gene	COQ9	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000088682	ENSG00000088682	HGNC:25302													
COX7B	gene	COX7B	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000131174	ENSG00000131174	HGNC:2291													
CPSF3	gene	CPSF3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876				35121750		False	2	0;100;0	9.382	False		ENSG00000119203	ENSG00000119203	HGNC:2326													
CRBN	gene	CRBN	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 2  607417 				28143899;18414909		False	2	0;33;67	9.382	False		ENSG00000113851	ENSG00000113851	HGNC:30185													
CRMP1	gene	CRMP1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				36511780;39758889		False	2	0;100;0	9.382	False		ENSG00000072832	ENSG00000072832	HGNC:2365													
CSTF2	gene	CSTF2	Expert Review Amber	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual disability, MONDO:0001071				26350204;32816001		False	2	0;40;60	9.382	False		ENSG00000101811	ENSG00000101811	HGNC:2484													
CTC1	gene	CTC1	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199				22387016;22267198		False	2	25;75;0	9.382	False		ENSG00000178971	ENSG00000178971	HGNC:26169													
CTNND2	gene	CTNND2	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CTNND2-related neurodevelopmental disorder						False	2	0;0;0	9.382	False		ENSG00000169862	ENSG00000169862	HGNC:2516													
CYP27A1	gene	CYP27A1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebrotendinous xanthomatosis  213700				24442603;29484516		False	2	50;50;0	9.382	False		ENSG00000135929	ENSG00000135929	HGNC:2605													
CYP2U1	gene	CYP2U1	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	HEREDITARY SPASTIC PARAPLEGIA				23176821		False	2	20;60;20	9.382	False		ENSG00000155016	ENSG00000155016	HGNC:20582													
DALRD3	gene	DALRD3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Developmental and epileptic encephalopathy 86, # 618910				32427860;39482881		False	2	0;100;0	9.382	False		ENSG00000178149	ENSG00000178149	HGNC:25536													
DAP3	gene	DAP3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Perrault syndrome 7, OMIM:621101				39701103		False	2	0;100;0	9.382	False		ENSG00000132676	ENSG00000132676	HGNC:2673													
DCC	gene	DCC	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542				28250456		False	2	20;60;20	9.382	False		ENSG00000187323	ENSG00000187323	HGNC:2701													
DDOST	gene	DDOST	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR; CDG1R				22305527		False	2	60;20;20	9.382	False		ENSG00000244038	ENSG00000244038	HGNC:2728													
DDX53	gene	DDX53	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000184735	ENSG00000184735	HGNC:20083													
DENND5A	gene	DENND5A	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 49 617281				27866705;27431290		False	2	50;50;0	9.382	False		ENSG00000184014	ENSG00000184014	HGNC:19344													
DHX32	gene	DHX32	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, spastic diplegia, dystonia, brain abnormalities				32989326		False	2	0;100;0	9.382	False		ENSG00000089876	ENSG00000089876	HGNC:16717													
DLAT	gene	DLAT	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pyruvate dehydrogenase E2 deficiency, 245348						False	2	50;50;0	9.382	False		ENSG00000150768	ENSG00000150768	HGNC:2896													
DLG1	gene	DLG1	Expert Review Amber	Intellectual disability		Developmental disorders						26350204;24896178; 24838842;20830797;15918153		False	2	0;33;67	9.382	False		ENSG00000075711	ENSG00000075711	HGNC:2900													
DLG2	gene	DLG2	Expert Review Amber	Intellectual disability		Developmental disorders						28724449		False	2	0;33;67	9.382	False		ENSG00000150672	ENSG00000150672	HGNC:2901													
DOCK8	gene	DOCK8	Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000107099	ENSG00000107099	HGNC:19191													
DONSON	gene	DONSON	Expert Review;Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		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	9.382	False		ENSG00000159147	ENSG00000159147	HGNC:2993													
DPH2	gene	DPH2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Diphthamide-deficiency syndrome				32576952;27421267		False	2	0;100;0	9.382	False		ENSG00000132768	ENSG00000132768	HGNC:3004													
DPM3	gene	DPM3	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O				28357185		False	2	0;75;25	9.382	False		ENSG00000179085	ENSG00000179085	HGNC:3007													
DPYSL2	gene	DPYSL2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000092964	ENSG00000092964	HGNC:3014													
DROSHA	gene	DROSHA	Expert Review Amber;Literature;NHS GMS	Intellectual disability		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	9.382	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													
DYNC1I2	gene	DYNC1I2	Expert Review;Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492				31079899		False	2	0;100;0	9.382	False		ENSG00000077380	ENSG00000077380	HGNC:2964													
EEF1B2	gene	EEF1B2	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	AUTOSOMAL RECESSIVE MENTAL RETARDATION				21937992;24188901		False	2	0;33;67	9.382	False		ENSG00000114942	ENSG00000114942	HGNC:3208													
EFNB1	gene	EFNB1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000090776	ENSG00000090776	HGNC:3226													
EIPR1	gene	EIPR1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				41058046		False	2	100;0;0	9.382	False		ENSG00000032389	ENSG00000032389	HGNC:12383													
EMG1	gene	EMG1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bowen-Conradi syndrome, 211180				30914295		False	2	0;0;0	9.382	False		ENSG00000126749	ENSG00000126749	HGNC:16912													
EMX2	gene	EMX2	Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen	Intellectual disability		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	9.382	False		ENSG00000170370	ENSG00000170370	HGNC:3341													
EPB41L1	gene	EPB41L1	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Mental retardation, autosomal dominant 11  614257				21376300;25572454		False	2	0;50;50	9.382	False		ENSG00000088367	ENSG00000088367	HGNC:3378													
EPHA7	gene	EPHA7	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000135333	ENSG00000135333	HGNC:3390													
ERGIC3	gene	ERGIC3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability, MONDO:0001071				33710394;31585110		False	2	0;100;0	9.382	False		ENSG00000125991	ENSG00000125991	HGNC:15927													
EXOC2	gene	EXOC2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000112685	ENSG00000112685	HGNC:24968													
EXOC7	gene	EXOC7	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	brain atrophy;seizures;developmental delay;microcephaly				32103185		False	2	100;0;0	9.382	False		ENSG00000182473	ENSG00000182473	HGNC:23214													
FAAH2	gene	FAAH2	Expert Review Amber	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females					25885783;20655035;34645488		False	2	17;33;50	9.382	False		ENSG00000165591	ENSG00000165591	HGNC:26440													
FAM120C	gene	FAM120C	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000184083	ENSG00000184083	HGNC:16949													
FANCA	gene	FANCA	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000187741	ENSG00000187741	HGNC:3582													
FANCC	gene	FANCC	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000158169	ENSG00000158169	HGNC:3584													
FANCD2	gene	FANCD2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000144554	ENSG00000144554	HGNC:3585													
FANCE	gene	FANCE	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000112039	ENSG00000112039	HGNC:3586													
FANCF	gene	FANCF	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group F, 603467 						False	2	100;0;0	9.382	False		ENSG00000183161	ENSG00000183161	HGNC:3587													
FANCG	gene	FANCG	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group G, 614082 						False	2	100;0;0	9.382	False		ENSG00000221829	ENSG00000221829	HGNC:3588													
FANCI	gene	FANCI	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group I, 609053 						False	2	100;0;0	9.382	False		ENSG00000140525	ENSG00000140525	HGNC:25568													
FARSB	gene	FARSB	Expert list;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000116120	ENSG00000116120	HGNC:17800													
FDFT1	gene	FDFT1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Squalene synthase deficiency, 618156				29909962		False	2	33;67;0	9.382	False		ENSG00000079459	ENSG00000079459	HGNC:3629													
FEM1C	gene	FEM1C	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, MONDO:0001071				28135719;36336956		False	2	0;100;0	9.382	False		ENSG00000145780	ENSG00000145780	HGNC:16933													
FGF13	gene	FGF13	Expert Review Amber;Literature	Intellectual disability		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	9.382	False	Other	ENSG00000129682	ENSG00000129682	HGNC:3670													
FGF14	gene	FGF14	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 27  609307				12489043;15470364;21600715;30017992		False	2	67;33;0	9.382	False		ENSG00000102466	ENSG00000102466	HGNC:3671													
FGFR2	gene	FGFR2	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000066468	ENSG00000066468	HGNC:3689													
FICD	gene	FICD	Expert review;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000198855	ENSG00000198855	HGNC:18416													
FOXP4	gene	FOXP4	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder;multiple congenital abnormalities				33110267;36301021;36646976		False	2	33;67;0	9.382	False		ENSG00000137166	ENSG00000137166	HGNC:20842													
FOXR1	gene	FOXR1	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000176302	ENSG00000176302	HGNC:29980													
FRAS1	gene	FRAS1	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome 1  219000				12766769;16894541;17163535		False	2	50;0;50	9.382	False		ENSG00000138759	ENSG00000138759	HGNC:19185													
FREM2	gene	FREM2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000150893	ENSG00000150893	HGNC:25396													
FRRS1L	gene	FRRS1L	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		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	9.382	False		ENSG00000260230	ENSG00000260230	HGNC:1362													
FRY	gene	FRY	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	AUTOSOMAL RECESSIVE MENTAL RETARDATION				31487712;27457812;21937992		False	2	0;25;75	9.382	False		ENSG00000073910	ENSG00000073910	HGNC:20367													
FRYL	gene	FRYL	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000075539	ENSG00000075539	HGNC:29127													
FSD1L	gene	FSD1L	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				41720098;41720099		False	2	100;0;0	9.382	False		ENSG00000106701	ENSG00000106701	HGNC:13753													
FTO	gene	FTO	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Growth retardation, developmental delay, facial dysmorphism  612938				19559399;26378117		False	2	0;33;67	9.382	False		ENSG00000140718	ENSG00000140718	HGNC:24678													
GABBR1	gene	GABBR1	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000204681	ENSG00000204681	HGNC:4070													
GABRA3	gene	GABRA3	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000011677	ENSG00000011677	HGNC:4077													
GATA6	gene	GATA6	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False	Other - please provide details in the comments 	ENSG00000141448	ENSG00000141448	HGNC:4174													
GBA	gene	GBA	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000177628	ENSG00000177628	HGNC:4177													
GBA2	gene	GBA2	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Spastic paraplegia 46, autosomal recessive,	614409"				23332916;23332917;24252062;28052128		False	2	25;50;25	9.382	False		ENSG00000070610	ENSG00000070610	HGNC:18986													
GIGYF1	gene	GIGYF1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental disorder				33057194		False	2	0;100;0	9.382	False		ENSG00000146830	ENSG00000146830	HGNC:9126													
GJB1	gene	GJB1	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability		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	9.382	False		ENSG00000169562	ENSG00000169562	HGNC:4283													
GJB3	gene	GJB3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000188910	ENSG00000188910	HGNC:4285													
GLI3	gene	GLI3	Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000106571	ENSG00000106571	HGNC:4319													
GLS	gene	GLS	Expert list;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000115419	ENSG00000115419	HGNC:4331													
GMNN	gene	GMNN	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Meier-Gorlin syndrome 6, OMIM:616835				26637980;30914295		False	2	0;0;0	9.382	False		ENSG00000112312	ENSG00000112312	HGNC:17493													
GNE	gene	GNE	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sialuria, MIM#269921						False	2	50;50;0	9.382	False		ENSG00000159921	ENSG00000159921	HGNC:23657													
GON4L	gene	GON4L	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000116580	ENSG00000116580	HGNC:25973													
GOT2	gene	GOT2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000125166	ENSG00000125166	HGNC:4433													
GPSM2	gene	GPSM2	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Chudley-McCullough syndrome, 604213				27180139;23494849;22578326;20602914;21348867		False	2	20;60;20	9.382	False		ENSG00000121957	ENSG00000121957	HGNC:29501													
GSS	gene	GSS	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000100983	ENSG00000100983	HGNC:4624													
GSX2	gene	GSX2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000180613	ENSG00000180613	HGNC:24959													
GTF2I	gene	GTF2I	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				40962490		False	2	100;0;0	9.382	False		ENSG00000077809	ENSG00000263001	HGNC:4659													
HADHB	gene	HADHB	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trifunctional protein deficiency, MIM#609015						False	2	50;50;0	9.382	False		ENSG00000138029	ENSG00000138029	HGNC:4803													
HARS	gene	HARS	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	multisystem ataxic syndrome;mild-severe intellectual disability				32296180		False	2	0;100;0	9.382	False		ENSG00000170445	ENSG00000170445	HGNC:4816													
HAX1	gene	HAX1	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neutropenia, severe congenital 3, autosomal recessive, 610738				18611981;24896178;26503795;25529582		False	2	33;0;67	9.382	False		ENSG00000143575	ENSG00000143575	HGNC:16915													
HCN2	gene	HCN2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000099822	ENSG00000099822	HGNC:4846													
HEATR3	gene	HEATR3	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000155393	ENSG00000155393	HGNC:26087													
HEATR5B	gene	HEATR5B	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures				33824466		False	2	0;100;0	9.382	False		ENSG00000008869	ENSG00000008869	HGNC:29273													
HINT1	gene	HINT1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000169567	ENSG00000169567	HGNC:4912													
HIRA	gene	HIRA	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder				33417013;28135719;25363760		False	2	50;50;0	9.382	False		ENSG00000100084	ENSG00000100084	HGNC:4916													
HIST1H4I	gene	HIST1H4I	Expert Review Amber;Literature	Intellectual disability		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	9.382	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	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Tessadori-van Haaften neurodevelopmental syndrome 2 , OMIM:619759				31804630;35202563		False	2	0;100;0	9.382	False		ENSG00000197238	ENSG00000197238	HGNC:4785													
HNF1B	gene	HNF1B	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNRNPD	gene	HNRNPD	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental disorders				33057194;33874999		False	2	50;50;0	9.382	False		ENSG00000138668	ENSG00000138668	HGNC:5036													
HS2ST1	gene	HS2ST1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;dysmorphic features;congenital anomalies				33159882		False	2	100;0;0	9.382	False		ENSG00000153936	ENSG00000153936	HGNC:5193													
HSPG2	gene	HSPG2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717				25529582		False	2	100;0;0	9.382	False		ENSG00000142798	ENSG00000142798	HGNC:5273													
HTT	gene	HTT	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lopes-Maciel-Rodan syndrome, OMIM:617435;LOMARS				26740508;27329733;33432339		False	2	50;50;0	9.382	False		ENSG00000197386	ENSG00000197386	HGNC:4851													
IFT27	gene	IFT27	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 19, OMIM:615996				24488770;30761183		False	2	0;100;0	9.382	False		ENSG00000100360	ENSG00000100360	HGNC:18626													
IFT43	gene	IFT43	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 3, 614099 						False	2	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000119650	ENSG00000119650	HGNC:29669													
IL1RAPL2	gene	IL1RAPL2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000189108	ENSG00000189108	HGNC:5997													
IPO8	gene	IPO8	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	VISS syndrome, OMIM:619472;VISS syndrome, MONDO:0859177				34010604;34010605;33875846		False	2	0;100;0	9.382	False		ENSG00000133704	ENSG00000133704	HGNC:9853													
IQSEC1	gene	IQSEC1	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000144711	ENSG00000144711	HGNC:29112													
ISCA2	gene	ISCA2	Expert Review Amber;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 4, 616370				25539947;29297947;29359243;29122497		False	2	100;0;0	9.382	False		ENSG00000165898	ENSG00000165898	HGNC:19857													
ITFG2	gene	ITFG2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental abnormality;Intellectual disability;Developmental regression;Ataxia				28397838;33083013		False	2	0;100;0	9.382	False		ENSG00000111203	ENSG00000111203	HGNC:30879													
ITGA7	gene	ITGA7	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000135424	ENSG00000135424	HGNC:6143													
ITGAV	gene	ITGAV	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	syndromic disease, MONDO:0002254				39526957		False	2	0;100;0	9.382	False		ENSG00000138448	ENSG00000138448	HGNC:6150													
JAKMIP1	gene	JAKMIP1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability, MONDO:0001071;seizures				29158550;26627310;27799067		False	2	0;100;0	9.382	False		ENSG00000152969	ENSG00000152969	HGNC:26460													
JKAMP	gene	JKAMP	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				41643666		False	2	100;0;0	9.382	False		ENSG00000050130	ENSG00000050130	HGNC:20184													
JMJD1C	gene	JMJD1C	Expert Review;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;Autism				26181491;31954878;32996679;28378413		False	2	50;50;0	9.382	False		ENSG00000171988	ENSG00000171988	HGNC:12313													
KATNB1	gene	KATNB1	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534				25521378;25521379;26640080		False	2	100;0;0	9.382	False		ENSG00000140854	ENSG00000140854	HGNC:6217													
KCNA1	gene	KCNA1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia/myokymia syndrome, OMIM:160120				27730449;30055040;34778950		False	2	50;25;25	9.382	False		ENSG00000111262	ENSG00000111262	HGNC:6218													
KCNC3	gene	KCNC3	Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinocerebellar ataxia 13, OMIM:605259;MONDO:0011529				32655623;25756792		False	2	60;20;20	9.382	False		ENSG00000131398	ENSG00000131398	HGNC:6235													
KCND3	gene	KCND3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000171385	ENSG00000171385	HGNC:6239													
KCNK4	gene	KCNK4	Expert Review;Expert Review Amber;Literature	Intellectual disability		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	9.382	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	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				41468891		False	2	100;0;0	9.382	False		ENSG00000173120	ENSG00000173120	HGNC:13606													
KIF26A	gene	KIF26A	Expert Review Amber;Other	Intellectual disability		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	9.382	False		ENSG00000066735	ENSG00000066735	HGNC:20226													
KIF5B	gene	KIF5B	Expert Review Amber;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	kyphomelic dysplasia, MONDO:0008881;intellectual disability, MONDO:0001071				36018820;35342932		False	2	0;100;0	9.382	False		ENSG00000170759	ENSG00000170759	HGNC:6324													
KLHL15	gene	KLHL15	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000174010	ENSG00000174010	HGNC:29347													
LAMB2	gene	LAMB2	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pierson syndrome, MIM#609049						False	2	50;50;0	9.382	False		ENSG00000172037	ENSG00000172037	HGNC:6487													
LARS2	gene	LARS2	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000011376	ENSG00000011376	HGNC:17095													
LAS1L	gene	LAS1L	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Wilson-Turner syndrome 309585				25644381;26358559		False	2	33;0;67	9.382	False		ENSG00000001497	ENSG00000001497	HGNC:25726													
LDB1	gene	LDB1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital hydrocephalus, MONDO:0016349				39680505;38091987;33077954		False	2	100;0;0	9.382	False		ENSG00000198728	ENSG00000198728	HGNC:6532													
LINGO1	gene	LINGO1	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 64 (MIM 618103)				28837161		False	2	0;100;0	9.382	False		ENSG00000169783	ENSG00000169783	HGNC:21205													
LIPT2	gene	LIPT2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668				28628643;30914295		False	2	0;0;0	9.382	False		ENSG00000175536	ENSG00000175536	HGNC:37216													
LMAN2L	gene	LMAN2L	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Intellectual disability;epilepsy				31020005;26566883		False	2	0;100;0	9.382	False		ENSG00000114988	ENSG00000114988	HGNC:19263													
LMBRD1	gene	LMBRD1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO;Methylmalonic aciduria and homocystinuria, cblF type, 277380						False	2	100;0;0	9.382	False		ENSG00000168216	ENSG00000168216	HGNC:23038													
LMNA	gene	LMNA	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
LMNB2	gene	LMNB2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microcephaly 27, primary, autosomal dominant, OMIM:619180				33033404		False	2	100;0;0	9.382	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	Intellectual disability		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	9.382	False		ENSG00000144320	ENSG00000144320	HGNC:21610													
LRP5	gene	LRP5	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Osteoporosis-pseudoglioma syndrome, 259770						False	2	50;50;0	9.382	False		ENSG00000162337	ENSG00000162337	HGNC:6697													
LRRC32	gene	LRRC32	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000137507	ENSG00000137507	HGNC:4161													
LRRC45	gene	LRRC45	Expert Review Amber;Other	Intellectual disability		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	9.382	False		ENSG00000169683	ENSG00000169683	HGNC:28302													
LRRC8C	gene	LRRC8C	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	TIMES syndrome, OMIM:621056				39623139		False	2	0;100;0	9.382	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	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	FICUS syndrome, OMIM:621193;FICUS syndrome, MONDO:0978296				31010896;36100156;40204357		False	2	100;0;0	9.382	False		ENSG00000175324	ENSG00000175324	HGNC:20472													
LSM7	gene	LSM7	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, MONDO:0019046				35047835;39420558		False	2	0;0;100	9.382	False		ENSG00000130332	ENSG00000130332	HGNC:20470													
LZTFL1	gene	LZTFL1	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 17, MIM#615994				22510444;23692385;27312011		False	2	100;0;0	9.382	False		ENSG00000163818	ENSG00000163818	HGNC:6741													
MAL	gene	MAL	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	developmental delay;nystagmus;progressive motor deterioration;dysmyelination				35217805		False	2	0;100;0	9.382	False		ENSG00000172005	ENSG00000172005	HGNC:6817													
MAPK10	gene	MAPK10	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000109339	ENSG00000109339	HGNC:6872													
MIR17HG	gene	MIR17HG	Expert Review;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000215417	ENSG00000215417	HGNC:23564													
MKL2	gene	MKL2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				37013900		False	2	50;50;0	9.382	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	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Developmental disorders				33057194		False	2	0;100;0	9.382	False		ENSG00000169446	ENSG00000169446	HGNC:28100													
MPV17	gene	MPV17	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000115204	ENSG00000115204	HGNC:7224													
MYCBP2	gene	MYCBP2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				36200388;41200582;41543631;33875846		False	2	100;0;0	9.382	False		ENSG00000005810	ENSG00000005810	HGNC:23386													
NAGS	gene	NAGS	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	N-acetylglutamate synthase deficiency, 237310						False	2	50;50;0	9.382	False		ENSG00000161653	ENSG00000161653	HGNC:17996													
NBAS	gene	NBAS	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800						False	2	100;0;0	9.382	False		ENSG00000151779	ENSG00000151779	HGNC:15625													
NBN	gene	NBN	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000104320	ENSG00000104320	HGNC:7652													
NCAPD2	gene	NCAPD2	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 21, primary, autosomal recessive, OMIM #617983				31056748;27737959;28097321		False	2	50;50;0	9.382	False		ENSG00000010292	ENSG00000010292	HGNC:24305													
NCAPG2	gene	NCAPG2	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Khan-Khan-Katsanis syndrome, MIM# 618460				30609410		False	2	50;50;0	9.382	False		ENSG00000146918	ENSG00000146918	HGNC:21904													
NDUFAF1	gene	NDUFAF1	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 11, MIM#618234				17557076;21931170;24963768		False	2	100;0;0	9.382	False		ENSG00000137806	ENSG00000137806	HGNC:18828													
NDUFAF2	gene	NDUFAF2	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome 256000;Mitochondrial complex I deficiency 252010				16200211;20818383;20571988		False	2	0;100;0	9.382	False		ENSG00000164182	ENSG00000164182	HGNC:28086													
NDUFAF5	gene	NDUFAF5	Expert Review Amber;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex 1 deficiency, 618238				19542079;21607760;18940309		False	2	100;0;0	9.382	False		ENSG00000101247	ENSG00000101247	HGNC:15899													
NECAP1	gene	NECAP1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Epileptic encephalopathy, early infantile 21, 615833				24399846;30525121;30626896		False	2	100;0;0	9.382	False		ENSG00000089818	ENSG00000089818	HGNC:24539													
NFIB	gene	NFIB	Expert Review;Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrocephaly, acquired, with impaired intellectual development, OMIM:618286				30388402;39567597		False	2	50;50;0	9.382	False		ENSG00000147862	ENSG00000147862	HGNC:7785													
NHP2	gene	NHP2	Expert Review Amber;Gene2Phenotype;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000145912	ENSG00000145912	HGNC:14377													
NPHP3	gene	NPHP3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000113971	ENSG00000113971	HGNC:7907													
NRDC	gene	NRDC	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				41734767		False	2	100;0;0	9.382	False		ENSG00000078618	ENSG00000078618	HGNC:7995													
NT5C3A	gene	NT5C3A	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Anemia, hemolytic, due to UMPH1 deficiency, 266120 						False	2	100;0;0	9.382	False		ENSG00000122643	ENSG00000122643	HGNC:17820													
NUP107	gene	NUP107	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME						False	2	50;50;0	9.382	False		ENSG00000111581	ENSG00000111581	HGNC:29914													
NUP188	gene	NUP188	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sandestig-Stefanova syndrome, 618804				32021605;32275884		False	2	67;0;33	9.382	False		ENSG00000095319	ENSG00000095319	HGNC:17859													
NUP62	gene	NUP62	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Striatonigral degeneration, infantile, 271930;Intellectual disability				12374138;14718703;16786527		False	2	0;100;0	9.382	False		ENSG00000213024	ENSG00000213024	HGNC:8066													
NUP85	gene	NUP85	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS)				34170319		False	2	0;100;0	9.382	False		ENSG00000125450	ENSG00000125450	HGNC:8734													
NYX	gene	NYX	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000188937	ENSG00000188937	HGNC:8082													
OLA1	gene	OLA1	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000138430	ENSG00000138430	HGNC:28833													
PAM16	gene	PAM16	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320				24786642;27354339		False	2	100;0;0	9.382	False		ENSG00000217930	ENSG00000217930	HGNC:29679													
PARP6	gene	PARP6	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;Epilepsy;Microcephaly				34067418		False	2	100;0;0	9.382	False		ENSG00000137817	ENSG00000137817	HGNC:26921													
PAX1	gene	PAX1	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Otofaciocervical syndrome 2, 615560				29681087;23851939;28657137		False	2	0;100;0	9.382	False		ENSG00000125813	ENSG00000125813	HGNC:8615													
PCBP2	gene	PCBP2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				38965372		False	2	50;50;0	9.382	False		ENSG00000197111	ENSG00000197111	HGNC:8648													
PDCD6IP	gene	PDCD6IP	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	microcephaly;Intellectual disability				32286682		False	2	0;100;0	9.382	False		ENSG00000170248	ENSG00000170248	HGNC:8766													
PDE10A	gene	PDE10A	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskinesia, limb and orofacial, infantile-onset, MIM#616921				27058446		False	2	50;50;0	9.382	False		ENSG00000112541	ENSG00000112541	HGNC:8772													
PDE1B	gene	PDE1B	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	movement disorder, MONDO:0005395;intellectual disability, MONDO:0001071				40492975		False	2	50;50;0	9.382	False		ENSG00000123360	ENSG00000123360	HGNC:8775													
PDE6D	gene	PDE6D	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Joubert syndrome 22 - MIM 615665				24166846;30423442		False	2	0;100;0	9.382	False		ENSG00000156973	ENSG00000156973	HGNC:8788													
PDP1	gene	PDP1	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pyruvate dehydrogenase phosphatase deficiency, MIM#608782				19184109;15855260;31392110		False	2	100;0;0	9.382	False		ENSG00000164951	ENSG00000164951	HGNC:9279													
PHF12	gene	PHF12	ClinGen;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	complex neurodevelopmental disorder, MONDO:0100038				27479843;28135719;28263302;33057194		False	2	100;0;0	9.382	False	Other	ENSG00000109118	ENSG00000109118	HGNC:20816													
PHF14	gene	PHF14	Expert list;Expert Review Amber;Literature;NHS GMS	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autism				35074918;22617776;31452935;31981491;26402605		False	2	67;33;0	9.382	False		ENSG00000106443	ENSG00000106443	HGNC:22203													
PHF5A	gene	PHF5A	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000100410	ENSG00000100410	HGNC:18000													
PIK3C2A	gene	PIK3C2A	Expert Review;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Oculoskeletodental syndrome, 618440				31034465		False	2	50;50;0	9.382	False		ENSG00000011405	ENSG00000011405	HGNC:8971													
PISD	gene	PISD	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	intellectual disability;cataract;microcephaly;deafness;skeletal dysplasia				31263216;30858161		False	2	100;0;0	9.382	False		ENSG00000241878	ENSG00000241878	HGNC:8999													
PJA1	gene	PJA1	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000181191	ENSG00000181191	HGNC:16648													
PLA2G16	gene	PLA2G16	Expert list;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000176485	ENSG00000176485	HGNC:17825													
PLAT	gene	PLAT	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				39574431		False	2	0;100;0	9.382	False		ENSG00000104368	ENSG00000104368	HGNC:9051													
PLXNA2	gene	PLXNA2	Expert Review Amber;Literature;Other	Intellectual disability		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	9.382	False		ENSG00000076356	ENSG00000076356	HGNC:9100													
PMPCA	gene	PMPCA	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 2 (MIM 213200)				25808372;26657514;27148589;30617178		False	2	100;0;0	9.382	False		ENSG00000165688	ENSG00000165688	HGNC:18667													
PNPO	gene	PNPO	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000108439	ENSG00000108439	HGNC:30260													
POMK	gene	POMK	Expert list;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000185900	ENSG00000185900	HGNC:26267													
POU1F1	gene	POU1F1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038						False	2	100;0;0	9.382	False		ENSG00000064835	ENSG00000064835	HGNC:9210													
PPFIA3	gene	PPFIA3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Paul-Chao neurodevelopmental syndrome, OMIM:621122				38181735		False	2	100;0;0	9.382	False		ENSG00000177380	ENSG00000177380	HGNC:9247													
PRKACB	gene	PRKACB	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardioacrofacial dysplasia 2, OMIM:619143				33058759;39095811		False	2	0;100;0	9.382	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	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital heart defects and ectodermal dysplasia 617364				27479907;32817298		False	2	67;33;0	9.382	False		ENSG00000184304	ENSG00000184304	HGNC:9407													
PRMT9	gene	PRMT9	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				21937992;38561334;41260215		False	2	20;20;60	9.382	False		ENSG00000164169	ENSG00000164169	HGNC:25099													
PRODH	gene	PRODH	Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000100033	ENSG00000100033	HGNC:9453													
PRRT2	gene	PRRT2	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000167371	ENSG00000167371	HGNC:30500													
PSMB8	gene	PSMB8	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040						False	2	50;50;0	9.382	False	Other - please provide details in the comments 	ENSG00000204264	ENSG00000204264	HGNC:9545													
PTH1R	gene	PTH1R	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False	Other - please provide details in the comments 	ENSG00000160801	ENSG00000160801	HGNC:9608													
PTHLH	gene	PTHLH	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Humoral hypercalcemia of malignancy;Brachydactyly, type E2, 613382						False	2	100;0;0	9.382	False	Other - please provide details in the comments	ENSG00000087494	ENSG00000087494	HGNC:9607													
PTPA	gene	PTPA	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability, MONDO:0001071				36073231		False	2	0;100;0	9.382	False		ENSG00000119383	ENSG00000119383	HGNC:9308													
PTPMT1	gene	PTPMT1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				39279645		False	2	0;100;0	9.382	False		ENSG00000110536	ENSG00000110536	HGNC:26965													
PTPN1	gene	PTPN1	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000196396	ENSG00000196396	HGNC:9642													
RAB14	gene	RAB14	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental disorders				33057194		False	2	0;100;0	9.382	False		ENSG00000119396	ENSG00000119396	HGNC:16524													
RAB3A	gene	RAB3A	Expert Review Amber;Research	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	RAB3A associated cerebellar ataxia;pyramidal features;neurodevelopmental delay				36928819;40166812		False	2	50;50;0	9.382	False		ENSG00000105649	ENSG00000105649	HGNC:9777													
RAD51	gene	RAD51	Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fanconi anemia, complementation group R, OMIM:617244				26681308;26253028;30907510		False	2	0;75;25	9.382	False		ENSG00000051180	ENSG00000051180	HGNC:9817													
RAP1GDS1	gene	RAP1GDS1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;dysmorphic features				32431071		False	2	33;67;0	9.382	False		ENSG00000138698	ENSG00000138698	HGNC:9859													
RAX	gene	RAX	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000134438	ENSG00000134438	HGNC:18662													
RBPJ	gene	RBPJ	Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Adams-Oliver syndrome 3, 614814				22883147;28160419		False	2	0;100;0	9.382	False		ENSG00000168214	ENSG00000168214	HGNC:5724													
RDH11	gene	RDH11	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000072042	ENSG00000072042	HGNC:17964													
RHEB	gene	RHEB	Expert Review Amber;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	short stature, macrocephaly, intellectual disability and autism spectrum disorder				29051493		False	2	50;0;50	9.382	False		ENSG00000106615	ENSG00000106615	HGNC:10011													
RIC1	gene	RIC1	Expert list;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000107036	ENSG00000107036	HGNC:17686													
RMRP	gene	RMRP	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cartilage-hair hypoplasia, 250250;Metaphyseal dysplasia without; hypotrichosis, 250460;Anauxetic dysplasia, 607095						False	2	100;0;0	9.382	False		ENSG00000269900	ENSG00000269900	HGNC:10031													
RNF220	gene	RNF220	Expert Review Amber;Literature;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability, MONDO:0001071				33964137;10881263		False	2	100;0;0	9.382	False		ENSG00000187147	ENSG00000187147	HGNC:25552													
RNPC3	gene	RNPC3	Expert Review;Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160				24480542;29866761;32462814;33650182		False	2	0;100;0	9.382	False		ENSG00000185946	ENSG00000185946	HGNC:18666													
RNU4ATAC	gene	RNU4ATAC	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000264229	ENSG00000264229	HGNC:34016													
RNU6ATAC	gene	RNU6ATAC	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000221676	ENSG00000221676	HGNC:34017													
RPS23	gene	RPS23	Expert Review Amber;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Brachycephaly, trichomegaly, and developmental delay 	617412"				28257692		False	2	0;0;0	9.382	False		ENSG00000186468	ENSG00000186468	HGNC:10410													
RPS6KC1	gene	RPS6KC1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				41130203		False	2	100;0;0	9.382	False		ENSG00000136643	ENSG00000136643	HGNC:10439													
RSF1	gene	RSF1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				41606215		False	2	100;0;0	9.382	False		ENSG00000048649	ENSG00000048649	HGNC:18118													
RUNX1T1	gene	RUNX1T1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				22644616;39568205		False	2	0;100;0	9.382	False		ENSG00000079102	ENSG00000079102	HGNC:1535													
RUSC2	gene	RUSC2	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 61 617773				27612186		False	2	0;100;0	9.382	False		ENSG00000198853	ENSG00000198853	HGNC:23625													
RYR2	gene	RYR2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					30170228		False	2	100;0;0	9.382	False		ENSG00000198626	ENSG00000198626	HGNC:10484													
SACS	gene	SACS	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000151835	ENSG00000151835	HGNC:10519													
SALL1	gene	SALL1	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability		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	9.382	False		ENSG00000103449	ENSG00000103449	HGNC:10524													
SCN1B	gene	SCN1B	Expert Review Amber;NHS GMS	Intellectual disability		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	9.382	False		ENSG00000105711	ENSG00000105711	HGNC:10586													
SCNM1	gene	SCNM1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome XIX, OMIM:620107;orofaciodigital syndrome 19, MONDO:0859310				36084634;41291844		False	2	100;0;0	9.382	False		ENSG00000163156	ENSG00000163156	HGNC:23136													
SEC31A	gene	SEC31A	Expert list;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000138674	ENSG00000138674	HGNC:17052													
SGSM3	gene	SGSM3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071				37833060		False	2	0;100;0	9.382	False		ENSG00000100359	ENSG00000100359	HGNC:25228													
SHROOM4	gene	SHROOM4	Emory Genetics Laboratory;Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability				12673656;16249884;26740508;20613765		False	2	0;33;67	9.382	False		ENSG00000158352	ENSG00000158352	HGNC:29215													
SLC12A9	gene	SLC12A9	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects;neurodevelopmental disorder, MONDO:0700092				38334070		False	2	100;0;0	9.382	False		ENSG00000146828	ENSG00000146828	HGNC:17435													
SLC25A26	gene	SLC25A26	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY						False	2	100;0;0	9.382	False		ENSG00000144741	ENSG00000144741	HGNC:20661													
SLC25A38	gene	SLC25A38	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950						False	2	100;0;0	9.382	False		ENSG00000144659	ENSG00000144659	HGNC:26054													
SLC26A2	gene	SLC26A2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000155850	ENSG00000155850	HGNC:10994													
SLC27A4	gene	SLC27A4	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis prematurity syndrome, 608649 						False	2	100;0;0	9.382	False		ENSG00000167114	ENSG00000167114	HGNC:10998													
SLC2A2	gene	SLC2A2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	{Diabetes mellitus, noninsulin-dependent}, 135853; Fanconi-Bickel; syndrome, 227810						False	2	100;0;0	9.382	False		ENSG00000163581	ENSG00000163581	HGNC:11006													
SLC35A3	gene	SLC35A3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553				24031089;28328131;28777481;16344554		False	2	100;0;0	9.382	False		ENSG00000117620	ENSG00000117620	HGNC:11023													
SLC35B2	gene	SLC35B2	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000157593	ENSG00000157593	HGNC:16872													
SLC35D1	gene	SLC35D1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Schneckenbecken dysplasia, 269250 						False	2	100;0;0	9.382	False		ENSG00000116704	ENSG00000116704	HGNC:20800													
SLC39A13	gene	SLC39A13	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 						False	2	100;0;0	9.382	False	 	ENSG00000165915	ENSG00000165915	HGNC:20859													
SLC45A1	gene	SLC45A1	Expert Review Amber;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with neuropsychiatric features, 617532				28434495; 27431290		False	2	0;100;0	9.382	False		ENSG00000162426	ENSG00000162426	HGNC:17939													
SLC4A1	gene	SLC4A1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False	Other - please provide details in the comments 	ENSG00000004939	ENSG00000004939	HGNC:11027													
SLC4A11	gene	SLC4A11	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000088836	ENSG00000088836	HGNC:16438													
SLC5A5	gene	SLC5A5	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Gene2Phenotype confirmed gene with ID HPO						False	2	100;0;0	9.382	False		ENSG00000105641	ENSG00000105641	HGNC:11040													
SLC9A7	gene	SLC9A7	Expert list;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000065923	ENSG00000065923	HGNC:17123													
SLITRK2	gene	SLITRK2	Expert Review Amber;Literature;NHS GMS	Intellectual disability		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	9.382	False		ENSG00000185985	ENSG00000185985	HGNC:13449													
SMAD3	gene	SMAD3	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loeys-Dietz syndrome, type 3, 613795 						False	2	33;33;33	9.382	False		ENSG00000166949	ENSG00000166949	HGNC:6769													
SMARCD2	gene	SMARCD2	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000108604	ENSG00000108604	HGNC:11107													
SMG9	gene	SMG9	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Heart and brain malformation syndrome, 616920				27018474;30914295;31390136		False	2	100;0;0	9.382	False		ENSG00000105771	ENSG00000105771	HGNC:25763													
SOX3	gene	SOX3	Emory Genetics Laboratory;Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000134595	ENSG00000134595	HGNC:11199													
SOX9	gene	SOX9	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;NHS GMS	Intellectual disability		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	9.382	False		ENSG00000125398	ENSG00000125398	HGNC:11204													
SRGAP3	gene	SRGAP3	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000196220	ENSG00000196220	HGNC:19744													
SRP54	gene	SRP54	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Syndromic neutropenia with Shwachman-Diamond-like features				28972538;30914295		False	2	0;0;0	9.382	False		ENSG00000100883	ENSG00000100883	HGNC:11301													
SUCLA2	gene	SUCLA2	Expert list;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000136143	ENSG00000136143	HGNC:11448													
TAB2	gene	TAB2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital heart defects, nonsyndromic, 2, OMIM:614980				35971781		False	2	25;50;25	9.382	False	Other - please provide details in the comments	ENSG00000055208	ENSG00000055208	HGNC:17075													
TAF13	gene	TAF13	Expert Review Amber;Literature;Other;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Mental retardation, autosomal recessive 60 	617432"				28257693		False	2	0;0;0	9.382	False		ENSG00000197780	ENSG00000197780	HGNC:11546													
TAF1C	gene	TAF1C	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000103168	ENSG00000103168	HGNC:11534													
TBX1	gene	TBX1	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000184058	ENSG00000184058	HGNC:11592													
TCP1	gene	TCP1	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000120438	ENSG00000120438	HGNC:11655													
TDP1	gene	TDP1	Emory Genetics Laboratory;Expert list;Expert Review Amber;NHS GMS;South West GLH;UKGTN	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250				12244316;31182267;39576382		False	2	33;50;17	9.382	False		ENSG00000042088	ENSG00000042088	HGNC:18884													
TERT	gene	TERT	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 4, OMIM:613989						False	2	50;50;0	9.382	False	Other - please provide details in the comments	ENSG00000164362	ENSG00000164362	HGNC:11730													
TGFB1	gene	TGFB1	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213				29483653		False	2	50;50;0	9.382	False	Other - please provide details in the comments	ENSG00000105329	ENSG00000105329	HGNC:11766													
THRB	gene	THRB	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	compromised intellectual development				22319036; 1682340		False	2	0;33;67	9.382	False		ENSG00000151090	ENSG00000151090	HGNC:11799													
TKFC	gene	TKFC	Expert list;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Triokinase and FMN cyclase deficiency syndrome, 618805				32004446		False	2	0;100;0	9.382	False		ENSG00000149476	ENSG00000149476	HGNC:24552													
TKT	gene	TKT	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Short stature, developmental delay, and congenital heart defects, 617044				27259054;30914295		False	2	0;0;0	9.382	False		ENSG00000163931	ENSG00000163931	HGNC:11834													
TM2D3	gene	TM2D3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurocardiorenal malformation syndrome, OMIM:621379				40449487		False	2	100;0;0	9.382	False		ENSG00000184277	ENSG00000184277	HGNC:24128													
TMEM231	gene	TMEM231	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 20,  614970 (includes developmental delay)				23012439; 27449316		False	2	0;33;67	9.382	False		ENSG00000205084	ENSG00000205084	HGNC:37234													
TMLHE	gene	TMLHE	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000185973	ENSG00000185973	HGNC:18308													
TNIK	gene	TNIK	Expert Review Amber;Literature;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 54, 617028				27106596		False	2	0;100;0	9.382	False		ENSG00000154310	ENSG00000154310	HGNC:30765													
TOMM70	gene	TOMM70	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000154174	ENSG00000154174	HGNC:11985													
TRAK1	gene	TRAK1	Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 68, 618201				28940097;28364549;29846532		False	2	100;0;0	9.382	False		ENSG00000182606	ENSG00000182606	HGNC:29947													
TRAPPC10	gene	TRAPPC10	Expert Review Amber;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027				30167849;35298461		False	2	0;67;33	9.382	False		ENSG00000160218	ENSG00000160218	HGNC:11868													
TRAPPC11	gene	TRAPPC11	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	myopathy and intellectual disability				23830518;27707803		False	2	0;100;0	9.382	False		ENSG00000168538	ENSG00000168538	HGNC:25751													
TRAPPC2L	gene	TRAPPC2L	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331				30120216;32843486		False	2	0;100;0	9.382	False		ENSG00000167515	ENSG00000167515	HGNC:30887													
TRPC5	gene	TRPC5	DD-Gene2Phenotype;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000072315	ENSG00000072315	HGNC:12337													
TSEN15	gene	TSEN15	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 2F, OMIM:617026				27392077;30914295;25558065		False	2	100;0;0	9.382	False		ENSG00000198860	ENSG00000198860	HGNC:16791													
TSPAN7	gene	TSPAN7	Emory Genetics Laboratory;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000156298	ENSG00000156298	HGNC:11854													
TUBGCP4	gene	TUBGCP4	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; mildly delayed development				25817018		False	2	0;100;0	9.382	False		ENSG00000137822	ENSG00000137822	HGNC:16691													
TWIST2	gene	TWIST2	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000233608	ENSG00000233608	HGNC:20670													
TYW1	gene	TYW1	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	cerebral palsy, MONDO:0006497;intellectual disability, MONDO:0001071				34077496		False	2	0;100;0	9.382	False		ENSG00000198874	ENSG00000198874	HGNC:25598													
UBE3C	gene	UBE3C	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, OMIM:620270				36401616		False	2	0;100;0	9.382	False		ENSG00000009335	ENSG00000009335	HGNC:16803													
UFC1	gene	UFC1	Expert Review;Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000143222	ENSG00000143222	HGNC:26941													
UPB1	gene	UPB1	Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Intellectual disability		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	9.382	False		ENSG00000100024	ENSG00000100024	HGNC:16297													
USP27X	gene	USP27X	Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000242013	ENSG00000273820	HGNC:13486													
VIPAS39	gene	VIPAS39	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404				39736737;35151346;26019847		False	2	50;50;0	9.382	False		ENSG00000151445	ENSG00000151445	HGNC:20347													
VPS33B	gene	VPS33B	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 						False	2	100;0;0	9.382	False		ENSG00000184056	ENSG00000184056	HGNC:12712													
VPS50	gene	VPS50	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum				34037727		False	2	0;100;0	9.382	False		ENSG00000004766	ENSG00000004766	HGNC:25956													
VPS51	gene	VPS51	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Pontocerebellar hypoplasia, type 13, MIM#	618606"				30624672;31207318		False	2	0;100;0	9.382	False		ENSG00000149823	ENSG00000149823	HGNC:1172													
WASHC4	gene	WASHC4	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 43, OMIM:615817				31953988;21498477		False	2	100;0;0	9.382	False		ENSG00000136051	ENSG00000136051	HGNC:29174													
WASHC5	gene	WASHC5	Expert Review Amber;Other	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ritscher-Schinzel syndrome, OMIM:220210, Ritscher-Schinzel syndrome, MONDO:0019078				24065355;24916641;36130690		False	2	67;33;0	9.382	False		ENSG00000164961	ENSG00000164961	HGNC:28984													
WDR11	gene	WDR11	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability, MONDO:0001071;Microcephaly, MONDO:0001149;Short stature,HP:0004322				26350204;34413497		False	2	20;60;20	9.382	False		ENSG00000120008	ENSG00000120008	HGNC:13831													
WDR83	gene	WDR83	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				19726548;28332277;37509073;41381792		False	2	0;100;0	9.382	False		ENSG00000123154	ENSG00000123154	HGNC:32672													
WSB2	gene	WSB2	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				40374945		False	2	100;0;0	9.382	False		ENSG00000176871	ENSG00000176871	HGNC:19222													
XPA	gene	XPA	Expert Review Amber;Radboud University Medical Center, Nijmegen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group A, OMIM: 278700				26302748;25566891;24135642;39621777		False	2	33;33;33	9.382	False		ENSG00000136936	ENSG00000136936	HGNC:12814													
YARS	gene	YARS	Expert Review Amber;Literature	Intellectual disability		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	9.382	False		ENSG00000134684	ENSG00000134684	HGNC:12840													
ZBTB11	gene	ZBTB11	Expert Review;Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder, autosomal recessive 69, OMIM:618383				29893856;28382966		False	2	0;100;0	9.382	False		ENSG00000066422	ENSG00000066422	HGNC:16740													
ZC3H14	gene	ZC3H14	Expert Review Amber	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 56, 617125; intellectual disability				26350204;  21734151		False	2	0;50;50	9.382	False		ENSG00000100722	ENSG00000100722	HGNC:20509													
ZFP57	gene	ZFP57	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber;Victorian Clinical Genetics Services	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, transient neonatal, 1, 601410				23150280		False	2	50;50;0	9.382	False		ENSG00000204644	ENSG00000204644	HGNC:18791													
ZNF148	gene	ZNF148	BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Amber	Intellectual disability		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	9.382	False		ENSG00000163848	ENSG00000163848	HGNC:12933													
ZNF407	gene	ZNF407	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Global developmental delay;Intellectual disability				24907849;32737394;23195952		False	2	0;100;0	9.382	False		ENSG00000215421	ENSG00000215421	HGNC:19904													
ZNF668	gene	ZNF668	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	DNA damage repair defect;microcephaly;growth deficiency;severe global developmental delay;brain malformation;facial dysmorphism				34313816;26633546		False	2	0;100;0	9.382	False		ENSG00000167394	ENSG00000167394	HGNC:25821													
ZNF865	gene	ZNF865	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092				40936200		False	2	100;0;0	9.382	False		ENSG00000261221	ENSG00000261221	HGNC:38705													
ZNRF3	gene	ZNRF3	Expert Review Amber;Literature	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	complex neurodevelopmental disorder, MONDO:0100038				39168120		False	2	0;100;0	9.382	False		ENSG00000183579	ENSG00000183579	HGNC:18126													
DMPK_CTG	str	DMPK	Expert Review Green;NHS GMS;Expert list	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myotonic dystrophy 1, OMIM:160900						False	3	0;0;0	9.382	True		ENSG00000104936	ENSG00000104936	HGNC:2933	19	46273463	46273522	45770205	45770264	CTG	35	50					
FMR1_CGG	str	FMR1	Expert Review Green;NHS GMS;Expert list	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fragile X syndrome, OMIM:300624;Fragile X tremor/ataxia syndrome, OMIM:300623						False	3	0;0;0	9.382	False		ENSG00000102081	ENSG00000102081	HGNC:3775	X	146993569	146993628	147912051	147912110	CGG	55	200					
ATXN10_ATTCT	str	ATXN10	Expert Review Amber;NHS GMS;Expert list	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinocerebellar ataxia 10, OMIM:603516				12164725		False	2	50;50;0	9.382	False		ENSG00000130638	ENSG00000130638	HGNC:10549	22	46191235	46191304	45795355	45795424	ATTCT	33	800					
ISCA-37390-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	123450;PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay				11238681;15635506		False	3	0;0;0	9.382	False					5			37695	11347150				3		60	cnv_loss	5p15 terminal (Cri du chat syndrome) region Loss
ISCA-37392-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	intellectual disability;609757;behavior problems;abnormal gait and station;cardiovascular disease;phonologic disorders;distinctive facial features;neurologic abnormalities;speech sound disorders				26610320		False	3	0;0;0	9.382	False					7			73330452	74728172					3	60	cnv_gain	7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
ISCA-37392-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	194050;Williams syndrome				20301427		False	3	0;0;0	9.382	False					7			73330452	74728172				3		60	cnv_loss	7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
ISCA-37393-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome;115470				11693792;22890013;22495764		False	3	0;0;0	9.382	False					22			16912063	18109094					3	60	cnv_gain	22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
ISCA-37394-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination;600430				25402011;23188045		False	3	100;0;0	9.382	False					2			239032997	241988449				3		60	cnv_loss	2q37.3 terminal region (includes HDAC4) Loss
ISCA-37396-Loss	region		Expert Review Green;Expert list	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Chromosome 15q24 deletion syndrome, 613406;PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology;developmental delay, severe speech problems;PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features;PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia				22180641;19557438;19233321		False	3	100;0;0	9.382	True					15			72671374	75680568				3		60	cnv_loss	15q24 recurrent region (A-D) (includes SIN3A) Loss
ISCA-37397-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	seizures;failure to thrive;ADHD;heart defects;speech disturbances;hypernasal speech;hearing impariment;abnormal behaviour;developmental delay;hypotonia;micro- or macrocephaly				18414210;22140377;19193630		False	3	0;0;0	9.382	False					22			21562828	23306924					3	60	cnv_gain	22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain
ISCA-37397-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	diaphragmatic hernia;mild skeletal abnormalities;uterine didelphys;611867;DiGeorge syndrome (DGS);clinodactyly;velocardiofacial syndrome;ADHD;Goldenhar syndrome;prematurity;developmental delay;micropephaly;cardiovascular defects;Seizures;global developmental delay;language delay;prenatal and postnatal growth delay;Hyptonia				21671380;23765049;18179902		False	3	0;0;0	9.382	False					22			21562828	23306924				3		60	cnv_loss	22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
ISCA-37400-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	614671;intellectual disability;delayed development;autism;specific deficits in speech or language				21841781;18184952;21731881		False	3	0;0;0	9.382	False					16			29638676	30188531					3	60	cnv_gain	16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain
ISCA-37400-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	seizures;intellectual disability;Chiari malformations;cerebellar ectopia;611913;mental retardation;Macrocephaly;developmental delay;autism spectrum disorder (ASD);vertebral anomalies				21841781;18184952;20301775		False	3	0;0;0	9.382	False					16			29638676	30188531				3		60	cnv_loss	16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
ISCA-37401-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome;194072						False	3	0;0;0	9.382	False					11			31781961	32489442				3		60	cnv_loss	11p13 (WAGR syndrome) region Loss
ISCA-37405-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	juvenile nephronophthisis 1: including growth retardation.  Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities;266900;609583				9856524;15138899;8852662		False	3	0;0;0	9.382	False					2			110104531	110228181				30		60	cnv_loss	2q13 recurrent region (includes NPHP1) Loss
ISCA-37406-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes;610543				10573006;16783566		False	3	0;0;0	9.382	False					16			3725055	3880120				3		60	cnv_loss	16p13.3 region (includes CREBBP) Loss
ISCA-37408-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies				16963482;22579565;18245392		False	3	0;0;0	9.382	False					2			58912065	62261736				3		60	cnv_loss	2p15p16.1 region (includes BCL11A) Loss
ISCA-37411-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems;612001;PMID: 18278044  mental retardation, epilepsy and variable facial and digital dysmorphisms;PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia				19289393;19136953;18278044		False	3	0;0;0	9.382	False					15			30900686	32153204				3		60	cnv_loss	15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
ISCA-37415-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability;Developmental delay;Autism;Aortopathy				23637818;24352232;21614007;30287593		False	3	100;0;0	9.382	False					16			15417854	16198408					2	60	cnv_gain	16p13.11 recurrent region (includes MYH11) Gain
ISCA-37415-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects				19843651;18550696;24246141		False	3	0;0;0	9.382	False					16			15417854	16198408				3		60	cnv_loss	16p13.11 recurrent region (includes MYH11) Loss
ISCA-37418-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies;610883;characterized by hypotonia, poor feeding, failure to thrive, developmental delay, mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated						False	3	0;0;0	9.382	False					17			16906714	20309889					3	60	cnv_gain	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain
ISCA-37418-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Smith-Magenis syndrome, OMIM:182290;Smith-Magenis syndrome, MONDO:0008434						False	3	100;0;0	9.382	False					17			16906714	20309889				3		60	cnv_loss	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
ISCA-37420-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Koolen-De Vries syndrome, OMIM:610443;Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature				25217958;18628315		False	3	0;0;0	9.382	False					17			45627800	46087514				3		60	cnv_loss	17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37421-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Chromosome 1q21.1 duplication syndrome;ncomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis;612475;1q21.1 microduplication syndrome				3298277;3817079		False	3	0;0;0	9.382	False					1			147105904	147917509					3	60	cnv_gain	1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain
ISCA-37421-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	dysmorphic features;612474;Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts;mild to moderate developmental delay						False	3	0;0;0	9.382	False					1			147105904	147917509				3		60	cnv_loss	1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
ISCA-37423-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.;mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly);congenital heart disease;8p23.1 duplication syndrome				21933911;23345203		False	3	100;0;0	9.382	False					8			8242542	11908820					2	60	cnv_gain	8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.;congenital heart defects, microcephaly, psychomotor delay and behavioural problems;hyperactivity, craniofacial abnormalities;8p23.1 microdeletion syndrome;moderate intellectual disability				23239632;20969981		False	3	100;0;0	9.382	False					8			8242542	11908820				3		60	cnv_loss	8p23.1 recurrent region (includes GATA4) Loss
ISCA-37424-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	PMID 20345475 macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period.  PMID: 21248748 developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia;PMID: 25217958 none specified;PMID: 24550761 age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before,  phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable				25217958;20345475;21248748;24550761		False	3	0;0;0	9.382	False					10			79923087	86979631				3		60	cnv_loss	10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss
ISCA-37425-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microcephaly, short stature and developmental delay;short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.				23913520;23599694		False	3	0;0;0	9.382	False					5			176301976	177620792					3	60	cnv_gain	5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
ISCA-37425-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	macrocephaly, overgrowth and advanced bone age;colpocephaly;Sotos syndrome;macrocephaly;117550;rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw						False	3	0;0;0	9.382	False					5			176301976	177620792				3		60	cnv_loss	5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
ISCA-37429-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Wolf-Hirschhorn syndrome, OMIM:194190				20026556;14630905		False	3	0;0;0	9.382	False					4			337779	2009235				3		60	cnv_loss	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37430-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	613215;Chromosome 17p13.3 duplication syndrome;variable psychomotor delay and dysmorphic features;17q11.2 microduplication syndrome				23813913;19520700;19136950		False	3	0;0;0	9.382	False					17			1344539	2685615					3	60	cnv_gain	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
ISCA-37430-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay;growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment;Chromosome 17p13.3 duplication syndrome;prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw;Characteristic facies, pre- and post-natal growth retardation;247200;classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities;Miller-Dieker lissencephaly syndrome						False	3	0;0;0	9.382	False					17			1344539	2685615				3		60	cnv_loss	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37431-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism;Chromosome 17q11.2 deletion syndrome, 1.4Mb;DD/ID, facial dysmorphisms, and seizures				25205021;22241097;18183042		False	3	0;0;0	9.382	False					17			30780079	31937008					2	60	cnv_gain	17q11.2 recurrent region (includes NF1) Gain
ISCA-37431-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	dysmorphic features, cardiac anomalies and mental retardation;613675;variable facial dysmorphism,  cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;NF1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb						False	3	0;0;0	9.382	False					17			30780079	31937008				3		60	cnv_loss	17q11.2 recurrent region (includes NF1) Loss
ISCA-37432-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia;Speech and language delay;Seizures (not all);Chromosome 17q12 duplication syndrome;614526;Behavioural difficulties						False	3	0;0;0	9.382	False					17			36458167	37854616					3	60	cnv_gain	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay						False	3	0;0;0	9.382	False					17			36458167	37854616				3		60	cnv_loss	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37434-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	posteriorly rotated, low-set, abnormal ears;brachycephaly;epicanthus;heart defects;pointed chin;deep-set eyes;microcephaly;hypotonia;seizures;poor/absent speech;central nervous system anomalies;large anterior fontanels;microbrachycephaly;mental retardation;growth impairment;large, late-closing anterior fontanel;flat nose;nasal bridge;developmental delay;hearing impairment;distinct dysmorphic features;1p36 deletion syndrome;607872				17918734;22766398;18245432		False	3	0;0;0	9.382	False					1			898703	6229913				3		60	cnv_loss	1p36 terminal region (includes GABRD) Loss
ISCA-37439-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	28300815;Chromosome Xq duplication syndrome				17546640;20004760;18047645		False	3	0;0;0	9.382	False					X			154396223	154555683					3	60	cnv_gain	Xq28 recurrent region (includes GDI1) Gain
ISCA-37440-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	mild/moderate mental retardation;facial dysmorphism;Hypotonia-cystinuria syndrome (HCS);2p21 deletion syndrome;rapid weight gain in late childhood;failure to thrive;growth hormone deficiency;606407;lactic acidemia;respiratory chain complex IV deficiency;hyperphagia;minor facial dysmorphism;severe somatic and developmental delay;nephrolithiasis;cystinuria;neonatal seizures;hypotonia				11524703;18234729;16385448		False	3	0;0;0	9.382	False					2			44183133	44362502				30		60	cnv_loss	2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37441-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Potocki-Shaffer syndrome;multiple exostoses;biparietal foramina;intellectual disability;strabismus;minor craniofacial anomalies;myopia;ophthalmologic anomalies;601224;mental retardation;enlarged anterior fontanel;genital abnormalities in males;parietal foramina;developmental delay				15852040;16319823;20140962		False	3	0;0;0	9.382	False					11			43873250	46130899				3		60	cnv_loss	11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37443-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	. mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes.  primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth;1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425;Chromosome 3q29 microdeletion syndrome						False	3	0;0;0	9.382	False					3			196029183	197617791				3		60	cnv_loss	3q29 recurrent region (includes DLG1) Loss
ISCA-37446-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	608363;intellectual disability and congenital abnormalities,Autism;chromosome 22q11.2 microduplication;heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal				23044707;22970919		False	3	0;0;0	9.382	False					22			18924718	21111383					3	60	cnv_gain	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
ISCA-37446-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells;micrognathia;clefting;Hearing deficits;Velocardiofacial syndrome;cardiac malformations;DiGeorge syndrome						False	3	0;0;0	9.382	False					22			18924718	21111383				3		60	cnv_loss	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37447-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Kagami-Ogata syndrome, OMIM:608149;Temple syndrome, OMIM:616222				20585555;24801763;27406249;33579810;18176563;28640239		False	3	100;0;0	9.382	False					14			100724515	100833215				3		60	cnv_loss	DLK1-MEG3 Intergenic Region Loss
ISCA-37448-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay/intellectual disability, epilepsy, autism spectrum disorder, schizophrenia, congenital heart disease, and variable dysmorphic features				31451536;24352232;30767844;31665216		False	3	100;0;0	9.382	False					15			22782170	23040134				3		60	cnv_loss	15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37468-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	episodes of sudden loss of muscle tone;severe intellectual disability;exiting behavior;short stature;eleveated serotonin levels;autistic features;lip-smacking;hypotonia;stereotypical hand movements				20485326;22365943;23414621		False	3	0;0;0	9.382	False					X			43654906	43882474				3		60	cnv_loss	Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37478-Gain	region		ClinGen;Other;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636;chromosome 15q11-q13 duplication syndrome;autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems				18374305;16840569;9106540		False	3	0;0;0	9.382	False					15			23465365	28134728					3	60	cnv_gain	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105830				22045295;7611294		False	3	0;0;0	9.382	False					15			23465365	28134728				3		60	cnv_loss	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37486-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	developmental delay;613444;obesity				23258348;19966786;20808231		False	3	0;0;0	9.382	False					16			28811314	29035178				3		60	cnv_loss	16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
ISCA-37493-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	microcephaly;seizures;agenesis of the corpus callosum;intellectual disability;hand and foot anomalies;612337;non-specific craniofacial anomalies;hypoplasia;psychomotor retardation;hypogenesis of the corpus callosum				21800092;17603806;22678713		False	3	0;0;0	9.382	False					1			243124428	245154985				3		60	cnv_loss	1q43q44 terminal region (includes AKT3) Loss
ISCA-37494-Gain	region		Expert Review Green;Expert list	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Chromosome Xq28 duplication syndrome, 300815;X linked intellectual disability (XLID);PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features;duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes;PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip);PMID:24357492 Cognitive impairment in male patients				25927380;21984752;24357492		False	3	100;0;0	9.382	False					X			154890328	155335092					3	60	cnv_gain	Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain
ISCA-37494-Loss	region		Expert Review Green;Expert list	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features;deletion results in skewed chromosome X inactivation and no clinical phenotype in females;PMID: 21984752 in utero male lethality with deletions				25927380;21984752		False	3	100;0;0	9.382	False					X			154890328	155335092				3		60	cnv_loss	Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
ISCA-37495-Loss	region		ClinGen;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					26227573		False	3	100;0;0	9.382	False					2			96073264	97005692				3		60	cnv_loss	2q11.2 recurrent region (includes ARID5A, TMEM127) Loss
ISCA-37498-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay/intellectual disability, dysmorphic features, dental anomalies, long slender fingers with 5th finger clinodactyly, and additional clinical features				28211979;21373257;37152320		False	3	100;0;0	9.382	False					11			67996175	71525885				3		60	cnv_loss	11q13.2q13.4 recurrent region (includes SHANK2, FGFs) Loss
ISCA-37500-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	mild to moderate cognitive deficit;Diamond-Blackfan anemia;intellectual disability;614294;anemia;congenital diaphragmatic hernia;cryptorchidism in males;severe speech and psychomotor delay;mental retardation;postnatal short stature;behavioral problem;mild dysmorphic feature;developmental delay				23166063;17847001;24352913		False	3	0;0;0	9.382	False					15			82534140	84045981				3		60	cnv_loss	15q25.2 recurrent region (LCR B-C, proximal) Loss
ISCA-37501-Loss	region		Expert Review Green;Expert list	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Chromosome 17q23.1-q23.2 deletion syndrome, 613355;PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities;PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss				20206336;22052739		False	3	100;0;0	9.382	False					17			60035641	62198448				3		60	cnv_loss	17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
ISCA-46290-Gain	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep;300801				25425167;19716111;21418194		False	3	0;0;0	9.382	False					X			48447780	52444264					3	60	cnv_gain	Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46292-Loss	region		ClinGen;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					21671380;21187175;17541642;19938088;21412926;21208904;15957176		False	3	100;0;0	9.382	False					22			21562828	24598466				3		60	cnv_loss	22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss
ISCA-46295-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	seizures;20236110;mental retardation;22775350;dysmorphic features;developmental delay;severe epileptic encephalopathy				19898479;20236110;22775350;29395075;29395074		False	3	0;0;0	9.382	False					15			31727418	32153204				3		60	cnv_loss	15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46296-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delays, intellectual disability, brain anomalies, non-specific craniofacial abnormalities, hypotonia, ocular abnormalities, hearing loss, and other variable clinical features				22180641;19921647		False	3	100;0;0	9.382	False					15			72671374	75215971				3		60	cnv_loss	15q24 recurrent region (LCR A-LCR C) Loss
ISCA-46297-Loss	region		ClinGen;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					31204719;19888295;20301607;25719193;30836598		False	3	100;0;0	9.382	False					16			21558792	21729102				30		60	cnv_loss	16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46299-Gain	region		Expert Review Green;Expert list	Intellectual disability		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 intellectual disability (XLID);PMID: 26692240 Mild profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate;PMID:22840365 Mild intellectual disability;PMID:26692240 Region 2 (53,160,114 53,713,154 bp Within Chromosome Xp11.22)				22840365;20655035;26692240		False	3	100;0;0	9.382	False					X			53334251	53766556					3	60	cnv_gain	Xp11.22 region (includes HUWE1) Gain
ISCA-46300-Loss	region		Expert Review Green;ClinGen	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delays/intellectual disability, brain anomalies, craniofacial abnormalities, hypermobile joints, digital findings, and other variable clinical features				27399968;22180641		False	3	100;0;0	9.382	False					15			75339446	75680568				3		60	cnv_loss	15q24 recurrent region (LCR C-LCR D) (includes SIN3A) Loss
ISCA-46304-Gain	region		ClinGen;Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)					22679399;29141583;29618507;32043567		False	3	100;0;0	9.382	False					X			154008529	154110279					3	60	cnv_gain	Xq28 region (includes MECP2) Gain
ISCA-46553-Loss	region		ClinGen;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					21204220;15338008;22067867;21471554;28503614		False	3	100;0;0	9.382	False					3			136684193	148623326				3		60	cnv_loss	3q24 Region (includes ZIC1) Loss
ISCA-46742-Loss	region		ClinGen;Expert Review Green	Intellectual disability		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					27633570;32562408;29274487;29220674		False	3	100;0;0	9.382	False					7			5497217	5760091				3		60	cnv_loss	7p22.1 region (includes ACTB) Loss
ISCA-46743-Gain	region		ClinGen;Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)					23637084;24733578;26443594;25677961;31609727		False	3	100;0;0	9.382	False					X			123900469	124102669					3	60	cnv_gain	Xq25 region (includes STAG2) Gain
ISCA-46743-Loss	region		ClinGen;Expert Review Green	Intellectual disability		Developmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)					30158690;33758131		False	3	100;0;0	9.382	False					X			123900469	124102669				3		60	cnv_loss	Xq25 region (includes STAG2) Loss