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
AARS	gene	AARS	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 29, OMIM:616339;Developmental and epileptic encephalopathy, 29, MONDO:0014593				28493438;25817015		False	3	100;0;0	8.43	False		ENSG00000090861	ENSG00000090861	HGNC:20													
ACBD6	gene	ACBD6	Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785				21937992;32108178;36457943;37951597		False	3	40;20;40	8.43	False		ENSG00000230124	ENSG00000230124	HGNC:23339													
ADARB1	gene	ADARB1	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, OMIM:618862				32220291;32719099		False	3	100;0;0	8.43	False		ENSG00000197381	ENSG00000197381	HGNC:226													
ANKLE2	gene	ANKLE2	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 16, primary, autosomal recessive, OMIM:616681;Microcephaly 16, primary, autosomal recessive, MONDO:0014730				25259927;30214071;31735666		False	3	33;33;33	8.43	False		ENSG00000176915	ENSG00000176915	HGNC:29101													
AP4E1	gene	AP4E1	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 51, autosomal recessive, OMIM:613744;Hereditary spastic paraplegia 51, MONDO:0013401				20972249;21620353;21937992;32979048		False	3	100;0;0	8.43	False		ENSG00000081014	ENSG00000081014	HGNC:573													
ARF3	gene	ARF3	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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	8.43	False		ENSG00000134287	ENSG00000134287	HGNC:654													
ARPC4	gene	ARPC4	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay, language impairment, and ocular abnormalities, OMIM:620141;microcephaly, MONDO:0001149				35047857		False	3	100;0;0	8.43	False		ENSG00000241553	ENSG00000241553	HGNC:707													
ASPM	gene	ASPM	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 5, primary, autosomal recessive, OMIM:608716				12355089;14574646;16673149;18452193;19028728;19353628;19770472;22775483;27250695;30500859		False	3	0;100;0	8.43	False		ENSG00000066279	ENSG00000066279	HGNC:19048													
ATP1A2	gene	ATP1A2	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations				30690204;31608932		False	3	100;0;0	8.43	False		ENSG00000018625	ENSG00000018625	HGNC:800													
ATP6V0A1	gene	ATP6V0A1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ATP6V0A1-related developmental disorder (monoallelic)				30842224;33057194;34909687;33833240		False	3	75;25;0	8.43	False		ENSG00000033627	ENSG00000033627	HGNC:865													
ATP6V0C	gene	ATP6V0C	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465				33190975;33090716;36074901		False	3	75;25;0	8.43	False		ENSG00000185883	ENSG00000185883	HGNC:855													
ATR	gene	ATR	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 1, OMIM:210600;Microcephalic primordial dwarfism				12640452;20301772		False	3	50;50;0	8.43	False		ENSG00000175054	ENSG00000175054	HGNC:882													
ATRX	gene	ATRX	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly); Alpha-thalassemia/mental retardation syndrome, 301040 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000085224	ENSG00000085224	HGNC:886													
BLM	gene	BLM	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Bloom syndrome, OMIM:210900;Microcephalic primordial dwarfism				9285778;20301572		False	3	50;50;0	8.43	False		ENSG00000197299	ENSG00000197299	HGNC:1058													
BPTF	gene	BPTF	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755				28942966;33522091		False	3	100;0;0	8.43	False		ENSG00000171634	ENSG00000171634	HGNC:3581													
BRCA2	gene	BRCA2	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group D1, OMIM:605724						False	3	50;50;0	8.43	False		ENSG00000139618	ENSG00000139618	HGNC:1101													
BRIP1	gene	BRIP1	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group J, OMIM:609054						False	3	50;50;0	8.43	False		ENSG00000136492	ENSG00000136492	HGNC:20473													
BUB1	gene	BUB1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 30, primary, autosomal recessive, OMIM:620183				35044816		False	3	67;33;0	8.43	False		ENSG00000169679	ENSG00000169679	HGNC:1148													
BUB1B	gene	BUB1B	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mosaic variegated aneuploidy syndrome 1, OMIM:257300				18548531		False	3	100;0;0	8.43	False		ENSG00000156970	ENSG00000156970	HGNC:1149													
CAMK2B	gene	CAMK2B	Expert Review Green;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 54, OMIM:617799				29100089;29560374;30842224;32875707		False	3	100;0;0	8.43	False		ENSG00000058404	ENSG00000058404	HGNC:1461													
CAMSAP1	gene	CAMSAP1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316				36283405		False	3	100;0;0	8.43	False		ENSG00000130559	ENSG00000130559	HGNC:19946													
CASK	gene	CASK	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	CASK-related XLID; severe intellectual disability, brainstem and cerebellar hypoplasia, and microcephaly;Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; MICPCH;Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, 300749				21954287;20595373;32700313;33090494;33272775;35149592		False	3	0;100;0	8.43	False		ENSG00000147044	ENSG00000147044	HGNC:1497													
CCDC88A	gene	CCDC88A	Expert list;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	PEHO syndrome-like, OMIM:617507				26917597;30392057;37798908;39334473		False	3	33;67;0	8.43	False		ENSG00000115355	ENSG00000115355	HGNC:25523													
CCND2	gene	CCND2	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly, MONDO:0001149				34087052;24705253		False	3	100;0;0	8.43	False		ENSG00000118971	ENSG00000118971	HGNC:1583													
CDK5RAP2	gene	CDK5RAP2	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Primary Microcephaly, Recessive;Microcephaly 3, primary, autosomal recessive, 604804;Microcephaly 3, Primary, Autosomal Recessive						False	3	0;100;0	8.43	False		ENSG00000136861	ENSG00000136861	HGNC:18672													
CDT1	gene	CDT1	Expert list;Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 4, OMIM:613804;Microcephalic primordial dwarfism				21358632		False	3	50;50;0	8.43	False		ENSG00000167513	ENSG00000167513	HGNC:24576													
CENPF	gene	CENPF	Expert list;Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Stromme syndrome, OMIM:243605;Microcephalic primordial dwarfism				25564561		False	3	50;50;0	8.43	False		ENSG00000117724	ENSG00000117724	HGNC:1857													
CENPJ	gene	CENPJ	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Primary Microcephaly, Recessive;Microcephaly 6, primary, autosomal recessive, 608393; ?Seckel syndrome 4, 613676; Microcephaly;microcephaly primary type 6 (MCPH6), 608393				16900296,		False	3	0;100;0	8.43	False		ENSG00000151849	ENSG00000151849	HGNC:17272													
CEP135	gene	CEP135	Expert list;Expert Review Green;Literature;NHS GMS;Other;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Autosomal recessive primary microcephaly (MCPH) ;?Microcephaly 8, primary, autosomal recessive, 614673;Primary Microcephaly and Disturbed Centrosomal Function, 614673						False	3	0;100;0	8.43	False		ENSG00000174799	ENSG00000174799	HGNC:29086													
CEP152	gene	CEP152	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Primary Microcephaly, Recessive;Microcephaly 9, primary, autosomal recessive, 614852; Seckel syndrome 5, 613823;microcephaly primary type 4 (MCPH4), 604321						False	3	0;100;0	8.43	False		ENSG00000103995	ENSG00000103995	HGNC:29298													
CEP55	gene	CEP55	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly, speech delays, and bilateral toe syndactyly				32100459		False	3	100;0;0	8.43	False		ENSG00000138180	ENSG00000138180	HGNC:1161													
CEP57	gene	CEP57	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mosaic variegated aneuploidy syndrome 2, OMIM:614114				24259107;30010053;21552266		False	3	100;0;0	8.43	False		ENSG00000166037	ENSG00000166037	HGNC:30794													
CHAMP1	gene	CHAMP1	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 40, OMIM:616579				27148580;26340335;26751395		False	3	100;0;0	8.43	False		ENSG00000198824	ENSG00000198824	HGNC:20311													
CHKA	gene	CHKA	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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	8.43	False		ENSG00000110721	ENSG00000110721	HGNC:1937													
CIT	gene	CIT	Expert Review Green;Literature;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	autosomal-recessive primary microcephaly; MCPH;Microcephaly 17, primary, autosomal recessive, 617090				27453578		False	3	50;50;0	8.43	False		ENSG00000122966	ENSG00000122966	HGNC:1985													
CKAP2L	gene	CKAP2L	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION;  Filippi syndrome, 272440				25439729		False	3	0;100;0	8.43	False		ENSG00000169607	ENSG00000169607	HGNC:26877													
COASY	gene	COASY	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 12, OMIM:618266;pontocerebellar hypoplasia, type 12, MONDO:0032643				30089828;24360804;27892483;27021474;36495139		False	3	67;33;0	8.43	False		ENSG00000068120	ENSG00000068120	HGNC:29932													
CREBBP	gene	CREBBP	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rubinstein-Taybi syndrome, 180849 (microcephaly)						False	3	50;50;0	8.43	False		ENSG00000005339	ENSG00000005339	HGNC:2348													
CRNKL1	gene	CRNKL1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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	8.43	False		ENSG00000101343	ENSG00000101343	HGNC:15762													
CSNK2A1	gene	CSNK2A1	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Okur-Chung neurodevelopmental syndrome, OMIM:617062				29240241		False	3	100;0;0	8.43	False		ENSG00000101266	ENSG00000101266	HGNC:2457													
CTCF	gene	CTCF	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 21, OMIM:615502				23746550;30893510;28619046		False	3	100;0;0	8.43	False		ENSG00000102974	ENSG00000102974	HGNC:13723													
CTNNB1	gene	CTNNB1	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075				23033978;24614104;25326669;26968164;27915094;34321325		False	3	0;100;0	8.43	False		ENSG00000168036	ENSG00000168036	HGNC:2514													
CTU2	gene	CTU2	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142				26633546;27480277;31301155		False	3	100;0;0	8.43	False		ENSG00000174177	ENSG00000174177	HGNC:28005													
DDX11	gene	DDX11	Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Warsaw breakage syndrome   613398  				23033317;20137776;25701697		False	3	0;100;0	8.43	False		ENSG00000013573	ENSG00000013573	HGNC:2736													
DHCR7	gene	DHCR7	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome   270400  				20301322		False	3	50;50;0	8.43	False		ENSG00000172893	ENSG00000172893	HGNC:2860													
DIAPH1	gene	DIAPH1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly, blindness and early onset seizures; severe visual impairment, intellectual disability, and short stature; Seizures, cortical blindness, microcephaly syndrome, 616632				PMID: 24781755 - a family study identify a homozygous nonsense alteration as the cause of microcephaly (MCP), severe visual impairment, intellectual disability, and short stature; PMID: 26463574 - describes a case of an affected boy from United Arab Emirates, and a seperate family with 3 affected siblings of Omani ancestry, and identify likely causative homozygous variants in this gene in the individuals affected with microcephaly, blindness and early onset seizures. 		False	3	0;100;0	8.43	False		ENSG00000131504	ENSG00000131504	HGNC:2876													
DNA2	gene	DNA2	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 8, OMIM:615807;Microcephalic primordial dwarfism, MONDO:0017950				24389050;31045292		False	3	50;50;0	8.43	False		ENSG00000138346	ENSG00000138346	HGNC:2939													
DNMT3A	gene	DNMT3A	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heyn-Sproul-Jackson syndrome OMIM:618724;MONDO:0032882				30478443		False	3	100;0;0	8.43	False		ENSG00000119772	ENSG00000119772	HGNC:2978													
DOHH	gene	DOHH	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066				35858628		False	3	100;0;0	8.43	False		ENSG00000129932	ENSG00000129932	HGNC:28662													
DONSON	gene	DONSON	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	"Microcephaly, short stature, and limb abnormalities 617604;Microcephaly-micromelia syndrome	251230"				28630177 		False	3	33;67;0	8.43	False		ENSG00000159147	ENSG00000159147	HGNC:2993													
DPM1	gene	DPM1	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ie, OMIM:608799				10642597;10642602;15669674;16641202;23856421;27481510;28139241;30653653		False	3	100;0;0	8.43	False		ENSG00000000419	ENSG00000000419	HGNC:3005													
DROSHA	gene	DROSHA	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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	3	67;33;0	8.43	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 list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492				31079899		False	3	100;0;0	8.43	False		ENSG00000077380	ENSG00000077380	HGNC:2964													
DYRK1A	gene	DYRK1A	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	microcephaly; Mental retardation, autosomal dominant 7, 614104				21294719;23099646;23160955;18405873;25944381		False	3	0;100;0	8.43	False		ENSG00000157540	ENSG00000157540	HGNC:3091													
EEF1D	gene	EEF1D	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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	8.43	False		ENSG00000104529	ENSG00000104529	HGNC:3211													
EFTUD2	gene	EFTUD2	Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mandibulofacial dysostosis, Guion-Almeida type   610536  				24999515; 22305528		False	3	50;50;0	8.43	False		ENSG00000108883	ENSG00000108883	HGNC:30858													
EIF2S3	gene	EIF2S3	Expert list;Expert Review Green	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	MEHMO syndrome, OMIM:300148				23063529;27333055;28055140;32799315		False	3	100;0;0	8.43	False		ENSG00000130741	ENSG00000130741	HGNC:3267													
EIF5A	gene	EIF5A	Expert Review Green;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Faundes-Banka syndrome, OMIM:619376				33547280		False	3	100;0;0	8.43	False		ENSG00000132507	ENSG00000132507	HGNC:3300													
ERCC4	gene	ERCC4	Expert Review Green;Literature;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group Q, 61527				23623386; 23623389		False	3	0;100;0	8.43	False		ENSG00000175595	ENSG00000175595	HGNC:3436													
ERCC6	gene	ERCC6	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cockayne syndrome, type B, 133540 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000225830	ENSG00000225830	HGNC:3438													
ERCC8	gene	ERCC8	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cockayne syndrome, type A, 216400 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000049167	ENSG00000049167	HGNC:3439													
FANCA	gene	FANCA	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group A, 227650 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000187741	ENSG00000187741	HGNC:3582													
FANCB	gene	FANCB	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fanconi anemia, complementation group B, 300514						False	3	50;50;0	8.43	False		ENSG00000181544	ENSG00000181544	HGNC:3583													
FANCC	gene	FANCC	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group C, 227645 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000158169	ENSG00000158169	HGNC:3584													
FANCD2	gene	FANCD2	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group D2, 227646 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000144554	ENSG00000144554	HGNC:3585													
FANCE	gene	FANCE	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group E, 600901 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000112039	ENSG00000112039	HGNC:3586													
FANCF	gene	FANCF	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group F, 603467						False	3	50;50;0	8.43	False		ENSG00000183161	ENSG00000183161	HGNC:3587													
FANCG	gene	FANCG	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group G, 614082						False	3	50;50;0	8.43	False		ENSG00000221829	ENSG00000221829	HGNC:3588													
FANCI	gene	FANCI	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group I, 609053						False	3	50;50;0	8.43	False		ENSG00000140525	ENSG00000140525	HGNC:25568													
FANCL	gene	FANCL	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group L, 614083						False	3	50;50;0	8.43	False		ENSG00000115392	ENSG00000115392	HGNC:20748													
FBRSL1	gene	FBRSL1	Expert Review Green;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;Microcephaly;Heart defect;Cleft palate;Contractures;Hearing impairment;Skin creases				32424618		False	3	100;0;0	8.43	False		ENSG00000112787	ENSG00000112787	HGNC:29308													
FLVCR1	gene	FLVCR1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060;neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126				39306721		False	3	100;0;0	8.43	False		ENSG00000162769	ENSG00000162769	HGNC:24682													
FOXG1	gene	FOXG1	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rett Syndrome, congenital variant OMIM:613454;Rett syndrome, congenital variant MONDO:0013270				21441262;19564653;19578037;27029630		False	3	100;0;0	8.43	False		ENSG00000176165	ENSG00000176165	HGNC:3811													
FRA10AC1	gene	FRA10AC1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113				34694367		False	3	100;0;0	8.43	False		ENSG00000148690	ENSG00000148690	HGNC:1162													
GINS3	gene	GINS3	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome like;Meier-Gorlin syndrome, MONDO:0016817				35603789		False	3	100;0;0	8.43	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000181938	ENSG00000181938	HGNC:25851													
GMNN	gene	GMNN	Expert list;Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Meier-Gorlin syndrome 6, OMIM:616835;Microcephalic primordial dwarfism				26637980		False	3	50;50;0	8.43	False	Other - please provide details in the comments	ENSG00000112312	ENSG00000112312	HGNC:17493													
GPT2	gene	GPT2	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281				25758935;27601654;29226631;29882329;31471722		False	3	100;0;0	8.43	False		ENSG00000166123	ENSG00000166123	HGNC:18062													
GRM7	gene	GRM7	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922				32286009		False	3	100;0;0	8.43	False		ENSG00000196277	ENSG00000196277	HGNC:4599													
GTF2E2	gene	GTF2E2	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy 6, nonphotosensitive, OMIM:616943				26996949;28973399		False	3	100;0;0	8.43	False		ENSG00000197265	ENSG00000197265	HGNC:4651													
GTF3C3	gene	GTF3C3	Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201				28940097;28097321;30552426;40040844		False	3	40;60;0	8.43	False		ENSG00000119041	ENSG00000119041	HGNC:4666													
HDAC8	gene	HDAC8	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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 5, 300882 (includes Small head circumference)				24403048		False	3	0;100;0	8.43	False		ENSG00000147099	ENSG00000147099	HGNC:13315													
HHAT	gene	HHAT	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Nivelon-Nivelon-Mabille syndrome, OMIM:600092				24784881;30912300;33749989		False	3	67;33;0	8.43	False		ENSG00000054392	ENSG00000054392	HGNC:18270													
HIST1H4C	gene	HIST1H4C	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:61975				28920961;35202563		False	3	100;0;0	8.43	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													
HMGB1	gene	HMGB1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay and microcephaly				34164801		False	3	100;0;0	8.43	False		ENSG00000189403	ENSG00000189403	HGNC:4983													
HPDL	gene	HPDL	Expert Review Green;Literature	Severe microcephaly		Neurology	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	8.43	False		ENSG00000186603	ENSG00000186603	HGNC:28242													
IARS	gene	IARS	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093;Microcephaly				27426735		False	3	0;100;0	8.43	False		ENSG00000196305	ENSG00000196305	HGNC:5330													
IER3IP1	gene	IER3IP1	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, epilepsy, and diabetes syndrome, 614231; Microcephaly (-3 to -9 SD)				24138066; 22991235 		False	3	0;100;0	8.43	False		ENSG00000134049	ENSG00000134049	HGNC:18550													
IGF1	gene	IGF1	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Insulin-like growth factor I deficiency, OMIM:608747;Microcephalic primordial dwarfism				8857020		False	3	50;50;0	8.43	False		ENSG00000017427	ENSG00000017427	HGNC:5464													
IGF1R	gene	IGF1R	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Insulin-like growth factor I, resistance to, OMIM:270450				14657428;25040157		False	3	50;50;0	8.43	False		ENSG00000140443	ENSG00000140443	HGNC:5465													
INPP4A	gene	INPP4A	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;microcephaly, MONDO:0001149				39315527;40748307;40772914		False	3	100;0;0	8.43	False		ENSG00000040933	ENSG00000040933	HGNC:6074													
INTS11	gene	INTS11	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428				37054711		False	3	100;0;0	8.43	False		ENSG00000127054	ENSG00000127054	HGNC:26052													
KIF11	gene	KIF11	Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	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, 152950				22284827		False	3	0;100;0	8.43	False		ENSG00000138160	ENSG00000138160	HGNC:6388													
KIF14	gene	KIF14	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 20, primary, autosomal recessive, OMIM:617914;Microcephaly 20, primary, autosomal recessive, MONDO:0054761				28892560;29343805		False	3	100;0;0	8.43	False		ENSG00000118193	ENSG00000118193	HGNC:19181													
KIF1BP	gene	KIF1BP	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Goldberg-Shprintzen megacolon syndrome, 609460 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000198954	ENSG00000198954	HGNC:23419													
KMT2B	gene	KMT2B	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 28, childhood-onset, OMIM:617284;Intellectual developmental disorder, autosomal dominant 68, OMIM:619934				27839873;27839873;33150406		False	3	100;0;0	8.43	False		ENSG00000272333	ENSG00000272333	HGNC:15840													
KNL1	gene	KNL1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 4, primary, autosomal recessive, OMIM:604321;Microcephaly 4, primary, autosomal recessive, MONDO:0011437				26626498;26621532;22983954		False	3	50;50;0	8.43	False		ENSG00000137812	ENSG00000137812	HGNC:24054													
LAGE3	gene	LAGE3	Expert list;Expert Review Green	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Galloway-Mowat syndrome 2, X-linked, OMIM:301006				28805828		False	3	100;0;0	8.43	False		ENSG00000196976	ENSG00000196976	HGNC:26058													
LARP7	gene	LARP7	Expert Review;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Alazami syndrome, 615071 (Microcephaly and short stature); Primordial dwarfism				26607181; 26374271		False	3	50;50;0	8.43	False		ENSG00000174720	ENSG00000174720	HGNC:24912													
LIG4	gene	LIG4	Expert list;Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	LIG4 syndrome, OMIM:606593;Microcephalic primordial dwarfism				11779494		False	3	50;50;0	8.43	False		ENSG00000174405	ENSG00000174405	HGNC:6601													
LMNB1	gene	LMNB1	Expert Review Green;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microcephaly 26, primary, autosomal dominant, OMIM:619179				33033404;32910914		False	3	100;0;0	8.43	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													
LMNB2	gene	LMNB2	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly 27, primary, autosomal dominant, OMIM:619180;microcephaly 27, primary, autosomal dominant, MONDO:0030929				33033404;40011009		False	3	100;0;0	8.43	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													
MCPH1	gene	MCPH1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 1, primary, autosomal recessive, OMIM:251200				30500859;16311745;20978018;7693575;11857108;12046007		False	3	0;100;0	8.43	False		ENSG00000147316	ENSG00000147316	HGNC:6954													
MECP2	gene	MECP2	Expert list;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Rett syndrome, OMIM:312750;Encephalopathy, neonatal severe, OMIM:300673;Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055;Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260				32393352;34351885		False	3	100;0;0	8.43	False		ENSG00000169057	ENSG00000169057	HGNC:6990													
METTL5	gene	METTL5	Expert Review Green;Literature	Severe microcephaly		Neurology	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	0;0;0	8.43	False		ENSG00000138382	ENSG00000138382	HGNC:25006													
MFSD2A	gene	MFSD2A	Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486				26005868;26005865;29302074;30043326;32572202		False	3	50;50;0	8.43	False		ENSG00000168389	ENSG00000168389	HGNC:25897													
MINPP1	gene	MINPP1	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia				33257696;33168985		False	3	100;0;0	8.43	False		ENSG00000107789	ENSG00000107789	HGNC:7102													
MORC2	gene	MORC2	Expert Review Green;Literature	Severe microcephaly		Neurology	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	8.43	False		ENSG00000133422	ENSG00000133422	HGNC:23573													
MRPL49	gene	MRPL49	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 60, OMIM:621195;combined oxidative phosphorylation deficiency, MONDO:0000732				40043708		False	3	100;0;0	8.43	False		ENSG00000149792	ENSG00000149792	HGNC:1176													
MSMO1	gene	MSMO1	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793				21285510: In a 15 year old girl with MCCPD (OMIM:616834), He et al., identified compound heterozygosity for 2 mutations in MSMO1 (c.519T-A, H173Q and c.731A-G, Y244C). In a 5-year-old Hispanic girl with MCCPD (OMIM:616834), He et al., identified homozygosity for a c.343G-A transition (G115R). Her parents were heterozygous for the mutation.		False	3	0;100;0	8.43	False		ENSG00000052802	ENSG00000052802	HGNC:10545													
MYCN	gene	MYCN	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Feingold syndrome 1, 164280 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000134323	ENSG00000134323	HGNC:7559													
NAPB	gene	NAPB	Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 107, OMIM:620033				28097321;33189936;26235277;21040848		False	3	100;0;0	8.43	False		ENSG00000125814	ENSG00000125814	HGNC:15751													
NARS	gene	NARS	Expert Review Green;Literature	Severe microcephaly		Neurology	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	8.43	False		ENSG00000134440	ENSG00000134440	HGNC:7643													
NBN	gene	NBN	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Nijmegen breakage syndrome   251260  				9590180; 20301355		False	3	50;50;0	8.43	False		ENSG00000104320	ENSG00000104320	HGNC:7652													
NCAPD2	gene	NCAPD2	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 21, primary, autosomal recessive, OMIM:617983				27737959;28097321;31056748		False	3	100;0;0	8.43	False		ENSG00000010292	ENSG00000010292	HGNC:24305													
NCAPD3	gene	NCAPD3	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 22, primary, autosomal recessive, OMIM:617984				27737959		False	3	50;50;0	8.43	False		ENSG00000151503	ENSG00000151503	HGNC:28952													
NDE1	gene	NDE1	Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013				21529752		False	3	50;50;0	8.43	False		ENSG00000072864	ENSG00000072864	HGNC:17619													
NHEJ1	gene	NHEJ1	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291				16439204		False	3	50;50;0	8.43	False		ENSG00000187736	ENSG00000187736	HGNC:25737													
NIPBL	gene	NIPBL	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 1, 122470 (includes microcephaly)				15146185;27164022		False	3	0;100;0	8.43	False		ENSG00000164190	ENSG00000164190	HGNC:28862													
NSD2	gene	NSD2	Expert list;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rauch-Steindl syndrome, OMIM:619695;Rauch-Steindl syndrome, MONDO:0859219				30345613;31171569;29760529;29892088;33941880;33276791		False	3	100;0;0	8.43	False		ENSG00000109685	ENSG00000109685	HGNC:12766													
NSRP1	gene	NSRP1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	NSRP1-associated developmental delay, epilepsy and microcephaly				34385670		False	3	100;0;0	8.43	False		ENSG00000126653	ENSG00000126653	HGNC:25305													
NUP107	gene	NUP107	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 7, OMIM:618348				28280135;28117080;30179222;25558065		False	3	100;0;0	8.43	False		ENSG00000111581	ENSG00000111581	HGNC:29914													
NUP188	gene	NUP188	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Sandestig-Stefanova syndrome, OMIM:618804				32021605;28726809;32275884		False	3	100;0;0	8.43	False		ENSG00000095319	ENSG00000095319	HGNC:17859													
NUP214	gene	NUP214	Expert list;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426;encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742				31178128;30758658		False	3	100;0;0	8.43	False		ENSG00000126883	ENSG00000126883	HGNC:8064													
ORC1	gene	ORC1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 1, OMIM:224690;Microcephalic primordial dwarfism				21358633		False	3	50;50;0	8.43	False		ENSG00000085840	ENSG00000085840	HGNC:8487													
ORC4	gene	ORC4	Expert list;Expert Review Green;Literature;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 2, OMIM:613800;Microcephalic primordial dwarfism				21358632		False	3	50;50;0	8.43	False		ENSG00000115947	ENSG00000115947	HGNC:8490													
ORC6	gene	ORC6	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 3, OMIM:613803;Microcephalic primordial dwarfism				21358632		False	3	50;50;0	8.43	False		ENSG00000091651	ENSG00000091651	HGNC:17151													
OSGEP	gene	OSGEP	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 3, OMIM:617729				28805828;28272532		False	3	100;0;0	8.43	False		ENSG00000092094	ENSG00000092094	HGNC:18028													
PCDH12	gene	PCDH12	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280				27164683;22822038;30178464		False	3	100;0;0	8.43	False		ENSG00000113555	ENSG00000113555	HGNC:8657													
PCNT	gene	PCNT	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720;Microcephalic primordial dwarfism						False	3	0;100;0	8.43	False		ENSG00000160299	ENSG00000160299	HGNC:16068													
PDHA1	gene	PDHA1	Expert Review;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Microcephaly, seizures, very variable phenotype						False	3	50;50;0	8.43	True		ENSG00000131828	ENSG00000131828	HGNC:8806													
PLK4	gene	PLK4	Expert list;Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Microcephaly and chorioretinopathy, autosomal recessive, 2; MCCRP2;Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171				25344692		False	3	50;50;0	8.43	False		ENSG00000142731	ENSG00000142731	HGNC:11397													
PNKP	gene	PNKP	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, seizures, and developmental delay, 613402				20118933		False	3	0;100;0	8.43	False		ENSG00000039650	ENSG00000039650	HGNC:9154													
PNPLA8	gene	PNPLA8	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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	8.43	False		ENSG00000135241	ENSG00000135241	HGNC:28900													
POC1A	gene	POC1A	Expert list;Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH;primary microcephaly;Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813;Microcephaly in adulthood;primordial dwarfism;SOFT syndrome				22840364;22840363;26374189;26791357		False	3	0;100;0	8.43	False		ENSG00000164087	ENSG00000164087	HGNC:24488													
POGZ	gene	POGZ	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	White-Sutton syndrome, OMIM:616364				25694107;26739615;26763879;26942287		False	3	100;0;0	8.43	False		ENSG00000143442	ENSG00000143442	HGNC:18801													
PPFIBP1	gene	PPFIBP1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024				35830857;30214071		False	3	100;0;0	8.43	False		ENSG00000110841	ENSG00000110841	HGNC:9249													
PPIL1	gene	PPIL1	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly				33220177		False	3	100;0;0	8.43	False		ENSG00000137168	ENSG00000137168	HGNC:9260													
PQBP1	gene	PQBP1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Renpenning syndrome   309500  				14634649		False	3	50;50;0	8.43	False		ENSG00000102103	ENSG00000102103	HGNC:9330													
PRIM1	gene	PRIM1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephalic primordial dwarfism, MONDO:0017950;Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005				33060134		False	3	100;0;0	8.43	False		ENSG00000198056	ENSG00000198056	HGNC:9369													
PRUNE1	gene	PRUNE1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly, spasticity, developmental delay;Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481;neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490				28334956;33105479;26539891		False	3	50;50;0	8.43	True		ENSG00000143363	ENSG00000143363	HGNC:13420													
PTPN23	gene	PTPN23	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890				31395947;29899372;29090338;27848944;25558065		False	3	50;50;0	8.43	False		ENSG00000076201	ENSG00000076201	HGNC:14406													
PUF60	gene	PUF60	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Verheij syndrome, OMIM:615583				24140112;27804958;28327570;28074499;28471317;32851780		False	3	100;0;0	8.43	False		ENSG00000179950	ENSG00000179950	HGNC:17042													
PUS7	gene	PUS7	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342				30526862;30778726;31583274		False	3	100;0;0	8.43	False		ENSG00000091127	ENSG00000091127	HGNC:26033													
RAD21	gene	RAD21	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 4, 614701 (includes microcephaly)				22633399;24378232;27882533		False	3	0;100;0	8.43	False		ENSG00000164754	ENSG00000164754	HGNC:9811													
RAD50	gene	RAD50	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Nijmegen breakage syndrome-like disorder, OMIM:613078				1887849;19409520;32212377;33378670		False	3	100;0;0	8.43	False		ENSG00000113522	ENSG00000113522	HGNC:9816													
RAD51	gene	RAD51	Expert Review Green;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fanconi anemia, complementation group R, OMIM:617244				26681308;26253028;30907510		False	3	100;0;0	8.43	False		ENSG00000051180	ENSG00000051180	HGNC:9817													
RBBP8	gene	RBBP8	Expert list;Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH;primary microcephaly;Seckel syndrome 2, 606744 ( includes microcephaly);MICROCEPHALIC PRIMORDIAL DWARFISM 2;Jawad syndrome (microcephaly with mental retardation and digital anomalies), 251255;Jawad syndrome, 251255 ( includes congenital microcephaly)						False	3	0;100;0	8.43	False		ENSG00000101773	ENSG00000101773	HGNC:9891													
RNU4-2	gene	RNU4-2	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ReNU syndrome, OMIM:620851				38821540;38645094		False	3	100;0;0	8.43	False		ENSG00000202538	ENSG00000202538	HGNC:10193													
RNU4ATAC	gene	RNU4ATAC	Expert list;Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710;Lowry-Wood syndrome, OMIM:226960;Microcephalic primordial dwarfism				21474760;20301772		False	3	50;50;0	8.43	False		ENSG00000264229	ENSG00000264229	HGNC:34016													
RPL10	gene	RPL10	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Mental retardation, X-linked, syndromic, 35	300998"				25316788; 25316788; 25316788		False	3	50;50;0	8.43	False		ENSG00000147403	ENSG00000147403	HGNC:10298													
RTTN	gene	RTTN	Expert list;Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Microcephaly, short stature, and polymicrogyria with seizures;Microcephaly,short stature,and polymicrogyria with seizures,614833;Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures, 614833				22939636		False	3	50;50;0	8.43	False		ENSG00000176225	ENSG00000176225	HGNC:18654													
SARS	gene	SARS	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709				28236339;34570399;35790048		False	3	67;33;0	8.43	False		ENSG00000031698	ENSG00000031698	HGNC:10537													
SASS6	gene	SASS6	Expert Review Green;Literature;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 14, primary, autosomal recessive, OMIM:616402				24951542;30639237;36739862;38501757		False	3	75;25;0	8.43	False		ENSG00000156876	ENSG00000156876	HGNC:25403													
SLC1A4	gene	SLC1A4	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657				25930971;26138499;26041762;27193218;29989513		False	3	100;0;0	8.43	False		ENSG00000115902	ENSG00000115902	HGNC:10942													
SLC25A19	gene	SLC25A19	Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Amish Lethal Microcephaly;Microcephaly, Amish type, 607196;Amish Lethal Microcephaly, 216535						False	3	0;100;0	8.43	False		ENSG00000125454	ENSG00000125454	HGNC:14409													
SLC38A3	gene	SLC38A3	Expert Review Green;Literature;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 102, 619881				34605855		False	3	100;0;0	8.43	False		ENSG00000188338	ENSG00000188338	HGNC:18044													
SLC4A10	gene	SLC4A10	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746				37459438;38054405;31130284		False	3	100;0;0	8.43	False		ENSG00000144290	ENSG00000144290	HGNC:13811													
SLC9A6	gene	SLC9A6	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Other;UKGTN	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Angelman-like Syndrome; microcephaly, seizures, ataxia, and absent speech;Mental retardation, X-linked syndromic, Christianson type, 300243; Microcephaly						False	3	0;100;0	8.43	False		ENSG00000198689	ENSG00000198689	HGNC:11079													
SLF2	gene	SLF2	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Atelis syndrome 1, OMIM:620184				36333305		False	3	100;0;0	8.43	False		ENSG00000119906	ENSG00000119906	HGNC:17814													
SLX4	gene	SLX4	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group P, 613951 (Microcephaly)						False	3	50;50;0	8.43	False		ENSG00000188827	ENSG00000188827	HGNC:23845													
SMARCA5	gene	SMARCA5	Expert Review Green;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability;postnatal microcephaly;hypotonia;failure to thrive				33980485		False	3	100;0;0	8.43	False		ENSG00000153147	ENSG00000153147	HGNC:11101													
SMC1A	gene	SMC1A	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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	0;100;0	8.43	False		ENSG00000072501	ENSG00000072501	HGNC:11111													
SMC3	gene	SMC3	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 3, 610759 (includes microcephaly)				20301283		False	3	0;100;0	8.43	False		ENSG00000108055	ENSG00000108055	HGNC:2468													
SMC5	gene	SMC5	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Atelis syndrome 2, OMIM:620185				36333305		False	3	100;0;0	8.43	False		ENSG00000198887	ENSG00000198887	HGNC:20465													
SMG8	gene	SMG8	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;Microcephaly;Short stature;Facial dysmorphism				31130284;33242396		False	3	100;0;0	8.43	False		ENSG00000167447	ENSG00000167447	HGNC:25551													
SPATA5L1	gene	SPATA5L1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616				34626583		False	3	100;0;0	8.43	False		ENSG00000171763	ENSG00000171763	HGNC:28762													
SPOUT1	gene	SPOUT1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154				39962046		False	3	100;0;0	8.43	False		ENSG00000198917	ENSG00000198917	HGNC:26933													
STAMBP	gene	STAMBP	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly-capillary malformation syndrome, OMIM:614261				23542699		False	3	50;50;0	8.43	False		ENSG00000124356	ENSG00000124356	HGNC:16950													
STIL	gene	STIL	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Primary Microcephaly, Recessive;Microcephaly 7, primary, autosomal recessive, 612703;Microcephaly 7, Primary, Autosomal Recessive				25218063		False	3	0;100;0	8.43	False		ENSG00000123473	ENSG00000123473	HGNC:10879													
SVBP	gene	SVBP	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569;Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816				31363758;30607023		False	3	100;0;0	8.43	False		ENSG00000177868	ENSG00000177868	HGNC:29204													
TMEM167A	gene	TMEM167A	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328				40924476		False	3	100;0;0	8.43	False		ENSG00000174695	ENSG00000174695	HGNC:28330													
TMX2	gene	TMX2	Expert Review Green;Literature	Severe microcephaly		Neurology	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;31735293;31270415		False	3	100;0;0	8.43	False		ENSG00000213593	ENSG00000213593	HGNC:30739													
TNPO2	gene	TNPO2	Expert Review Green;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability;Dysmorphic features;Microcephaly;Seizures;Hypotonia				34314705		False	3	100;0;0	8.43	False		ENSG00000105576	ENSG00000105576	HGNC:19998													
TOP3A	gene	TOP3A	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Bloom Syndrome-like Disorder				30057030		False	3	50;50;0	8.43	False		ENSG00000177302	ENSG00000177302	HGNC:11992													
TP53RK	gene	TP53RK	Expert Review;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 4, OMIM:617730				28805828;30053862		False	3	100;0;0	8.43	False		ENSG00000172315	ENSG00000172315	HGNC:16197													
TRAIP	gene	TRAIP	Expert list;Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 9, OMIM:616777;Microcephalic primordial dwarfism				26595769		False	3	50;50;0	8.43	False		ENSG00000183763	ENSG00000183763	HGNC:30764													
TRAPPC10	gene	TRAPPC10	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027				30167849;35298461		False	3	67;0;33	8.43	False		ENSG00000160218	ENSG00000160218	HGNC:11868													
TRAPPC12	gene	TRAPPC12	Expert list;Expert Review Green	Severe microcephaly		Neurology	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				32369837;28777934		False	3	100;0;0	8.43	False		ENSG00000171853	ENSG00000171853	HGNC:24284													
TRAPPC6B	gene	TRAPPC6B	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862				28626029;28397838;31687267		False	3	100;0;0	8.43	False		ENSG00000182400	ENSG00000182400	HGNC:23066													
TRAPPC9	gene	TRAPPC9	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 13, OMIM:613192				20004763;20004764;20004765;21629298;22549410;22989526;29031008;30853973		False	3	100;0;0	8.43	False		ENSG00000167632	ENSG00000167632	HGNC:30832													
TRIO	gene	TRIO	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061				26721934;27418539;32109419		False	3	100;0;0	8.43	False		ENSG00000038382	ENSG00000038382	HGNC:12303													
TRMT10A	gene	TRMT10A	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, short stature, and impaired glucose metabolism 1;616033;MSSGM1;primary microcephaly				24204302;25053765;26297882;26526202;26535115		False	3	0;100;0	8.43	False		ENSG00000145331	ENSG00000145331	HGNC:28403													
TSEN15	gene	TSEN15	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 2F, OMIM:617026				27392077		False	3	100;0;0	8.43	False		ENSG00000198860	ENSG00000198860	HGNC:16791													
TSEN54	gene	TSEN54	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753				18711368;20956791;20952379;20301773		False	3	100;0;0	8.43	False		ENSG00000182173	ENSG00000182173	HGNC:27561													
TTC5	gene	TTC5	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244				29302074;32439809		False	3	100;0;0	8.43	False		ENSG00000136319	ENSG00000136319	HGNC:19274													
TTI1	gene	TTI1	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445				36724785		False	3	100;0;0	8.43	False		ENSG00000101407	ENSG00000101407	HGNC:29029													
TUBG1	gene	TUBG1	Expert Review Green;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cortical dysplasia, complex, with other brain malformations 4, OMIM:615412				23603762;24860126;29706637;31151415		False	3	100;0;0	8.43	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000131462	ENSG00000131462	HGNC:12417													
TUBGCP2	gene	TUBGCP2	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737				31630790		False	3	100;0;0	8.43	False		ENSG00000130640	ENSG00000130640	HGNC:18599													
TUBGCP4	gene	TUBGCP4	Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335				25817018		False	3	50;50;0	8.43	False		ENSG00000137822	ENSG00000137822	HGNC:16691													
TUBGCP6	gene	TUBGCP6	Expert list;Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH; primary microcephaly;Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270; MCCRP1;Microcephaly and chorioretinopathy with or without mental retardation, 251270				25344692;22279524		False	3	50;50;0	8.43	False		ENSG00000128159	ENSG00000128159	HGNC:18127													
UBA5	gene	UBA5	Expert list;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 44, 617132				27545681;27545674		False	3	100;0;0	8.43	False		ENSG00000081307	ENSG00000081307	HGNC:23230													
UFC1	gene	UFC1	Expert list;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with spasticity and poor growth, 618076;microcephaly				26917597;30552426;29868776		False	3	100;0;0	8.43	False		ENSG00000143222	ENSG00000143222	HGNC:26941													
UFM1	gene	UFM1	Expert list;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 14, 617899;microcephaly				28931644;27545674;29868776		False	3	100;0;0	8.43	False		ENSG00000120686	ENSG00000120686	HGNC:20597													
UGP2	gene	UGP2	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 83, OMIM:618744				31820119		False	3	100;0;0	8.43	False		ENSG00000169764	ENSG00000169764	HGNC:12527													
UNC80	gene	UNC80	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801				26708751;26708753;26545877;29572195		False	3	100;0;0	8.43	False		ENSG00000144406	ENSG00000144406	HGNC:26582													
VRK1	gene	VRK1	Expert list;Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 1A, OMIM:607596				19646678;24126608;27281532;31560180		False	3	100;0;0	8.43	False		ENSG00000100749	ENSG00000100749	HGNC:12718													
WARS	gene	WARS	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	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	8.43	False		ENSG00000140105	ENSG00000140105	HGNC:12729													
WDR11	gene	WDR11	Expert Review Green	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability, MONDO:0001071;Microcephaly, MONDO:0001149;Short stature,HP:0004322				26350204;34413497		False	3	20;60;20	8.43	False		ENSG00000120008	ENSG00000120008	HGNC:13831													
WDR37	gene	WDR37	Expert list;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurooculocardiogenitourinary syndrome, OMIM:618652				31327508;31327510		False	3	100;0;0	8.43	False		ENSG00000047056	ENSG00000047056	HGNC:31406													
WDR4	gene	WDR4	Expert list;Expert Review Green;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 6, OMIM:61834;Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347				26416026;28617965;30079490;29597095		False	3	67;33;0	8.43	False		ENSG00000160193	ENSG00000160193	HGNC:12756													
WDR62	gene	WDR62	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317				21834044;20890278;20729831;28377545;10573015;20890279;30500859		False	3	0;100;0	8.43	False		ENSG00000075702	ENSG00000075702	HGNC:24502													
WDR73	gene	WDR73	Expert Review Green;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome,  251300				PMID:18019379 report on a 31-year-old pregnant woman with abnormal ultrasound findings and a previous child with Galloway-Mowat syndrome. During this pregnancy, microcephaly, intrauterine growth restriction (IUGR), and oligohydramnios were first noted at 27 weeks of gestation.		False	3	0;100;0	8.43	False		ENSG00000177082	ENSG00000177082	HGNC:25928													
WLS	gene	WLS	Expert Review Green;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Zaki syndrome, OMIM:619648				34587386		False	3	100;0;0	8.43	False		ENSG00000116729	ENSG00000116729	HGNC:30238													
XRCC4	gene	XRCC4	Expert list;Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Short stature, microcephaly, and endocrine dysfunction, OMIM:616541;Microcephalic primordial dwarfism				24389050		False	3	50;50;0	8.43	False		ENSG00000152422	ENSG00000152422	HGNC:12831													
YIPF5	gene	YIPF5	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278				33164986		False	3	100;0;0	8.43	False		ENSG00000145817	ENSG00000145817	HGNC:24877													
ZEB2	gene	ZEB2	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mowat-Wilson syndrome   235730  				20301585		False	3	50;50;0	8.43	False		ENSG00000169554	ENSG00000169554	HGNC:14881													
ZNF335	gene	ZNF335	Expert Review Green;Literature;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 10, primary, autosomal recessive, OMIM:615095				23178126;27540107;29652087;30500859;31187448		False	3	67;33;0	8.43	False		ENSG00000198026	ENSG00000198026	HGNC:15807													
ZNF526	gene	ZNF526	Expert Review Green;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;Microcephaly;Cataracts;Epilepsy;Hypertonia;Dystonia				33397746		False	3	100;0;0	8.43	False		ENSG00000167625	ENSG00000167625	HGNC:29415													
AGMO	gene	AGMO	Expert Review Amber;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Autosomal recessive primary microcephaly (MCPH); primary microcephaly, developmental delay, short stature and intellectual disability				27000257;31555905		False	2	50;50;0	8.43	False		ENSG00000187546	ENSG00000187546	HGNC:33784													
AKT3	gene	AKT3	Expert list;Expert Review Amber	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly				32827175;31929334;30853971;30053339;25424989		False	2	0;100;0	8.43	False		ENSG00000117020	ENSG00000117020	HGNC:393													
AP4B1	gene	AP4B1	Expert list;Expert Review Amber	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551				21620353;29193663;30337681;32166732		False	2	100;0;0	8.43	False		ENSG00000134262	ENSG00000134262	HGNC:572													
AP4M1	gene	AP4M1	Expert list;Expert Review Amber	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 50, autosomal recessive, OMIM:612936;Hereditary spastic paraplegia 50, MONDO:0013048				28464862;24700674		False	2	100;0;0	8.43	False		ENSG00000221838	ENSG00000221838	HGNC:574													
AP4S1	gene	AP4S1	Expert list;Expert Review Amber	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 52, autosomal recessive, OMIM:614067;Hereditary spastic paraplegia 52, MONDO:0013552				21620353;25552650;27444738;32216065;32979048		False	2	100;0;0	8.43	False		ENSG00000100478	ENSG00000100478	HGNC:575													
ARCN1	gene	ARCN1	Expert list;Expert Review Amber	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164				27476655;31075182;33154040		False	2	100;0;0	8.43	False		ENSG00000095139	ENSG00000095139	HGNC:649													
ATP9A	gene	ATP9A	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental delay;Postnatal microcephaly;Failure to thrive;Gastrointestinal symptoms;Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242				34379057;34764295;27626380		False	2	0;100;0	8.43	False		ENSG00000054793	ENSG00000054793	HGNC:13540													
BRD4	gene	BRD4	Expert list;Expert Review Amber	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 6, OMIM:620568				29379197;30302754		False	2	0;100;0	8.43	False		ENSG00000141867	ENSG00000141867	HGNC:13575													
C7orf43	gene	C7orf43	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 25, primary, autosomal recessive, OMIM:618351;Microcephaly 25, primary, autosomal recessive, MONDO:0032694				30715179		False	2	0;100;0	8.43	False		ENSG00000146826	ENSG00000146826	HGNC:25604													
COG3	gene	COG3	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIbb, OMIM:620546				37711075		False	2	0;100;0	8.43	False		ENSG00000136152	ENSG00000136152	HGNC:18619													
COPB1	gene	COPB1	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Baralle-Macken syndrome, OMIM:619255;Severe intellectual disability;Cataracts;Variable microcephaly				33632302		False	2	0;0;0	8.43	False		ENSG00000129083	ENSG00000129083	HGNC:2231													
CPSF3	gene	CPSF3	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876				35121750		False	2	0;100;0	8.43	False		ENSG00000119203	ENSG00000119203	HGNC:2326													
CRIPT	gene	CRIPT	Expert Review Amber;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Short stature with microcephaly and distinctive facies, 615789				27250922 Leduc et al., 2016 describe a female with biallelic mutations in CRIPT, presenting with short stature, dysmorphic features, microcephaly and hypopigmented macules. They detect a c.8G>A (p.C3Y) missense variant inherited from the mother in exon 1, and a 1,331?bp deletion encompassing exon 1, inherited from the father;24389050 Shaheen et al., 2014 report 2 cases: they examined cases with Short stature with microcephaly and distinctive facies (OMIM:615789). In a 3 year old boy they identified homozygosity for a 2bp insertion (c.133_134insGG) predicted to cause premature termination (Ala45GlyfsTer87). They also analyzed DNA from the first-cousin parents of a deceased affected male Saudi Arabian infant. The patient was presumed homozygous for a loss of function variant based on the heterozygous status of the parents.		False	2	0;100;0	8.43	False		ENSG00000119878	ENSG00000119878	HGNC:14312													
EIPR1	gene	EIPR1	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				41058046		False	2	100;0;0	8.43	False		ENSG00000032389	ENSG00000032389	HGNC:12383													
ERCC5	gene	ERCC5	Expert Review Amber;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cerebrooculofacioskeletal syndrome 3, 616570 (Microcephaly); Xeroderma pigmentosum, group G/Cockayne syndrome, 278780				24700531;32052936;32557569;9096355 (Retracted)		False	2	0;100;0	8.43	False		ENSG00000134899	ENSG00000134899	HGNC:3437													
EXOC7	gene	EXOC7	Expert list;Expert Review Amber	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	brain atrophy;seizures;developmental delay;microcephaly				32103185		False	2	100;0;0	8.43	False		ENSG00000182473	ENSG00000182473	HGNC:23214													
FILIP1	gene	FILIP1	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly, MONDO:0001149				36943452;37163662		False	2	0;100;0	8.43	False		ENSG00000118407	ENSG00000118407	HGNC:21015													
GPKOW	gene	GPKOW	Expert Review Amber;PAGE Additional Gene List	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	microcephaly with intrauterine growth restriction				28612833;40221893		False	2	50;50;0	8.43	False		ENSG00000068394	ENSG00000068394	HGNC:30677													
KBTBD2	gene	KBTBD2	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder, MONDO:0700092				39313616		False	2	0;100;0	8.43	False		ENSG00000170852	ENSG00000170852	HGNC:21751													
LHX2	gene	LHX2	Expert Review Amber;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	neurodevelopmental disorder				37057675		False	2	0;100;0	8.43	False		ENSG00000106689	ENSG00000106689	HGNC:6594													
LRRC8C	gene	LRRC8C	Expert Review Amber;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	TIMES syndrome, OMIM:621056				39623139		False	2	0;100;0	8.43	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													
MCM7	gene	MCM7	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome;Microcephaly;Intellectual disability				33654309;34059554		False	2	0;100;0	8.43	False		ENSG00000166508	ENSG00000166508	HGNC:6950													
MED11	gene	MED11	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327				36001086		False	2	0;100;0	8.43	False		ENSG00000161920	ENSG00000161920	HGNC:32687													
MED17	gene	MED17	Expert list;Expert Review Amber	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668				20950787;30345598;26004231;33756211		False	2	100;0;0	8.43	False		ENSG00000042429	ENSG00000042429	HGNC:2375													
MIR17HG	gene	MIR17HG	Expert Review;Expert Review Amber	Severe microcephaly		Neurology	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	8.43	False		ENSG00000215417	ENSG00000215417	HGNC:23564													
MPLKIP	gene	MPLKIP	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly (disease), MONDO:0001149				25655951;25290684;26518168;25606444;26880286;29421601;30580289;30598092;16977596;33043633;33729667		False	2	0;100;0	8.43	False		ENSG00000168303	ENSG00000168303	HGNC:16002													
MRE11	gene	MRE11	Expert Review Amber;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Nijmegen breakage syndrome-like severe microcephaly				21227757		False	2	0;100;0	8.43	False		ENSG00000020922	ENSG00000020922	HGNC:7230													
NAA20	gene	NAA20	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	autosomal recessive developmental delay, intellectual disability, and microcephaly				34230638		False	2	0;100;0	8.43	False		ENSG00000173418	ENSG00000173418	HGNC:15908													
NRDC	gene	NRDC	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly, MONDO:0001149;neurodevelopmental disorder, MONDO:0700092;Optic neuropathy, HP:0001138				41734767		False	2	100;0;0	8.43	False		ENSG00000078618	ENSG00000078618	HGNC:7995													
OLA1	gene	OLA1	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523;neurodevelopmental disorder,MONDO:0700092;microcephaly, MONDO:0001149				41887223		False	2	100;0;0	8.43	False		ENSG00000138430	ENSG00000138430	HGNC:28833													
PALB2	gene	PALB2	Expert Review Amber;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group N, 610832 (microcephaly)						False	2	33;67;0	8.43	False		ENSG00000083093	ENSG00000083093	HGNC:26144													
PCDHGC4	gene	PCDHGC4	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880				34244665		False	2	0;100;0	8.43	False		ENSG00000242419	ENSG00000242419	HGNC:8717													
PDCD6IP	gene	PDCD6IP	Expert list;Expert Review Amber	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Primary microcephaly				32286682		False	2	0;100;0	8.43	False		ENSG00000170248	ENSG00000170248	HGNC:8766													
PPP1R15B	gene	PPP1R15B	Expert Review Amber;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817				27640355;26159176;26307080		False	2	0;100;0	8.43	False		ENSG00000158615	ENSG00000158615	HGNC:14951													
PSMC3	gene	PSMC3	Expert Review Amber;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	neurodevelopmental disorder, MONDO:0700092;microcephaly, MONDO:0001149				37256937		False	2	0;100;0	8.43	False		ENSG00000165916	ENSG00000165916	HGNC:9549													
PTPMT1	gene	PTPMT1	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				39279645		False	2	0;100;0	8.43	False		ENSG00000110536	ENSG00000110536	HGNC:26965													
QARS	gene	QARS	Expert Review Amber;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy   615760  				24656866		False	2	0;100;0	8.43	False		ENSG00000172053	ENSG00000172053	HGNC:9751													
RAD51C	gene	RAD51C	Expert Review Amber;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group O, 613390						False	2	50;50;0	8.43	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
RMI1	gene	RMI1	Expert Review Amber;Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Bloom Syndrome-like Disorder				30057030		False	2	0;100;0	8.43	False		ENSG00000178966	ENSG00000178966	HGNC:25764													
RRP7A	gene	RRP7A	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly				33199730		False	2	0;100;0	8.43	False		ENSG00000189306	ENSG00000189306	HGNC:24286													
SNAPIN	gene	SNAPIN	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393				26539891;40930097		False	2	0;100;0	8.43	False		ENSG00000143553	ENSG00000143553	HGNC:17145													
TAF13	gene	TAF13	Expert Review Amber;Literature;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	"Mental retardation, autosomal recessive 60 	617432"				28257693		False	2	0;100;0	8.43	False		ENSG00000197780	ENSG00000197780	HGNC:11546													
TM2D3	gene	TM2D3	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurocardiorenal malformation syndrome, OMIM:621379				40449487		False	2	100;0;0	8.43	False		ENSG00000184277	ENSG00000184277	HGNC:24128													
TRA2B	gene	TRA2B	Expert Review Amber;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ramond-Elliott neurodevelopmental syndrome, OMIM:621421				36549593		False	2	0;100;0	8.43	False		ENSG00000136527	ENSG00000136527	HGNC:10781													
TRIP13	gene	TRIP13	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mosaic variegated aneuploidy syndrome 3, OMIM:617598				28553959		False	2	0;100;0	8.43	False		ENSG00000071539	ENSG00000071539	HGNC:12307													
TYW1	gene	TYW1	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	cerebral palsy, MONDO:0006497;microcephaly, MONDO:0001149				34077496		False	2	0;100;0	8.43	False		ENSG00000198874	ENSG00000198874	HGNC:25598													
UBE3A	gene	UBE3A	Expert list;Expert Review Amber	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Angelman syndrome, OMIM:105830				2012134;9182785;10861661;10861661		False	2	50;50;0	8.43	False		ENSG00000114062	ENSG00000114062	HGNC:12496													
UGGT1	gene	UGGT1	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	congenital disorder of glycosylation, MONDO:0015286				40267907		False	2	0;100;0	8.43	False		ENSG00000136731	ENSG00000136731	HGNC:15663													
VPS50	gene	VPS50	Expert Review Amber;Literature	Severe microcephaly		Neurology	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	8.43	False		ENSG00000004766	ENSG00000004766	HGNC:25956													
WDR47	gene	WDR47	Expert Review Amber;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092;microcephaly, MONDO:0001149				39609633		False	2	0;100;0	8.43	False		ENSG00000085433	ENSG00000085433	HGNC:29141													
YIF1B	gene	YIF1B	Expert list;Expert Review Amber	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Kaya-Barakat-Masson syndrome, OMIM:619125				32006098;26077767		False	2	100;0;0	8.43	False		ENSG00000167645	ENSG00000167645	HGNC:30511													
ZNF668	gene	ZNF668	Expert Review Amber;Literature	Severe microcephaly		Neurology	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	8.43	False		ENSG00000167394	ENSG00000167394	HGNC:25821													
ATP11A	gene	ATP11A	Expert Review Red;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder				34403372		False	1	0;100;0	8.43	False		ENSG00000068650	ENSG00000068650	HGNC:13552													
ATRIP	gene	ATRIP	Expert list;Expert Review Red;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephalic primordial dwarfism;Severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism				23144622		False	1	0;100;0	8.43	False		ENSG00000164053	ENSG00000164053	HGNC:33499													
CDC6	gene	CDC6	Expert list;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 5, OMIM:613805;Microcephalic primordial dwarfism				21358632;22333897		False	1	0;50;50	8.43	False		ENSG00000094804	ENSG00000094804	HGNC:1744													
CDK6	gene	CDK6	Literature;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Autosomal recessive primary microcephaly (MCPH) ;?Microcephaly 12, primary, autosomal recessive, 616080				25951892; 25548773; 23918663		False	1	0;100;0	8.43	False		ENSG00000105810	ENSG00000105810	HGNC:1777													
CENPE	gene	CENPE	Expert list;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Microcephaly 13, primary, autosomal recessive, OMIM:616051;Microcephalic primordial dwarfism						False	1	0;100;0	8.43	False		ENSG00000138778	ENSG00000138778	HGNC:1856													
CEP63	gene	CEP63	Expert list;Expert Review Red;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	MCPH;primary microcephaly;?Seckel syndrome 6, OMIM:614728;Microcephaly				21983783;26158450		False	1	33;67;0	8.43	False		ENSG00000182923	ENSG00000182923	HGNC:25815													
COPB2	gene	COPB2	Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, HP:0000252				29036432		False	1	0;0;100	8.43	False		ENSG00000184432	ENSG00000184432	HGNC:2232													
DPP6	gene	DPP6	Expert list;Expert Review Red;NHS GMS	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 33, OMIM:616311				21943606;23832105;29651237		False	1	0;100;0	8.43	False		ENSG00000130226	ENSG00000130226	HGNC:3010													
EOMES	gene	EOMES	Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly syndrome				17353897		False	1	0;50;50	8.43	False		ENSG00000163508	ENSG00000163508	HGNC:3372													
FANCM	gene	FANCM	Expert Review Red;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia				16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene; 19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA; 25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia.		False	1	0;100;0	8.43	False		ENSG00000187790	ENSG00000187790	HGNC:23168													
GINS2	gene	GINS2	Expert Review Red;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome like;Meier-Gorlin syndrome, MONDO:0016817				34353863		False	1	0;100;0	8.43	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000131153	ENSG00000131153	HGNC:24575													
HIKESHI	gene	HIKESHI	Expert list;Expert Review Red	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 13, OMIM:616881				26545878;28000699		False	1	100;0;0	8.43	False		ENSG00000149196	ENSG00000149196	HGNC:26938													
NCAPH	gene	NCAPH	Expert Review Red;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 23, primary, autosomal recessive, 617985				27737959		False	1	0;0;0	8.43	False		ENSG00000121152	ENSG00000121152	HGNC:1112													
NIN	gene	NIN	Expert Review Red;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Seckel syndrome 7, 614851; SCKL7				22933543		False	1	0;100;0	8.43	False		ENSG00000100503	ENSG00000100503	HGNC:14906													
NSMCE2	gene	NSMCE2	NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 10, 617253; SCKL10				25105364		False	1	0;100;0	8.43	False		ENSG00000156831	ENSG00000156831	HGNC:26513													
NUF2	gene	NUF2	Expert Review Red;Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	microcephaly;short stature;bilateral vocal cord paralysis;micrognathia;atrial septal defect				33721060		False	1	0;0;100	8.43	False		ENSG00000143228	ENSG00000143228	HGNC:14621													
PCLO	gene	PCLO	Expert list;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 3, 608027				12771259;25832664		False	1	0;0;100	8.43	False		ENSG00000186472	ENSG00000186472	HGNC:13406													
PHC1	gene	PHC1	Expert list;Literature;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Autosomal recessive primary microcephaly (MCPH) ;?Microcephaly 11, primary, autosomal recessive, 615414;MCPH; primary microcephaly				25951892; 25548773		False	1	0;100;0	8.43	False		ENSG00000111752	ENSG00000111752	HGNC:3182													
PLAA	gene	PLAA	Expert Review Red;NHS GMS;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527				28007986;28413018		False	1	0;100;0	8.43	False		ENSG00000137055	ENSG00000137055	HGNC:9043													
PPP1R35	gene	PPP1R35	Expert Review Red;Other	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Primary microcephaly						False	1	0;0;0	8.43	False		ENSG00000160813	ENSG00000160813	HGNC:28320													
RING1	gene	RING1	Literature	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	microcephaly;intellectual disability				29386386		False	1	0;0;100	8.43	False		ENSG00000204227	ENSG00000204227	HGNC:10018													
RUSC2	gene	RUSC2	Expert list;Expert Review Red	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 61, MIM# 617773				27612186		False	1	0;50;50	8.43	False		ENSG00000198853	ENSG00000198853	HGNC:23625													
SMO	gene	SMO	Expert list;Expert Review Red	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly HP:0000252;postaxial polydactyly MONDO:0020927;congenital heart disease MONDO:0005453;Hirschsprung disease MONDO:0018309				32413283		False	1	100;0;0	8.43	False		ENSG00000128602	ENSG00000128602	HGNC:11119													
TCF4	gene	TCF4	Expert list;Expert Review Red	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pitt-Hopkins syndrome, OMIM:610954				18728071;21671391;29318938		False	1	50;50;0	8.43	False		ENSG00000196628	ENSG00000196628	HGNC:11634													
TPR	gene	TPR	Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, MONDO:0001149				34494102		False	1	0;0;100	8.43	False		ENSG00000047410	ENSG00000047410	HGNC:12017													
TPRKB	gene	TPRKB	Expert list;Expert Review Red	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 5, OMIM:617731				28805828		False	1	50;0;50	8.43	False		ENSG00000144034	ENSG00000144034	HGNC:24259													
TRMT1	gene	TRMT1	Literature;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	Non syndromal congenital microcephaly				30289604		False	1	0;50;50	8.43	False		ENSG00000104907	ENSG00000104907	HGNC:25980													
TUBGCP3	gene	TUBGCP3	Expert list;NHS GMS	Severe microcephaly		Neurology		MCPH; primary microcephaly						False	1	0;100;0	8.43	False		ENSG00000126216	ENSG00000126216	HGNC:18598													
WDFY3	gene	WDFY3	Expert Review Red;NHS GMS;Other	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Microcephaly 18, primary, autosomal dominant, 617520				27008544		False	1	0;100;0	8.43	False		ENSG00000163625	ENSG00000163625	HGNC:20751													
ZNHIT3	gene	ZNHIT3	Expert list;NHS GMS	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	PEHO syndrome, 260565;microcephaly				28335020		False	1	0;0;100	8.43	False		ENSG00000108278	ENSG00000273611	HGNC:12309													
ZPR1	gene	ZPR1	Expert Review Red;Literature	Severe microcephaly		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321				29851065		False	1	0;0;100	8.43	False		ENSG00000109917	ENSG00000109917	HGNC:13051													
ISCA-37390-Loss	region		NHS GMS;Expert Review Green;ClinGen	Severe microcephaly		Neurology	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	100;0;0	8.43	False					5			37695	11347150				3		60	cnv_loss	5p15 terminal (Cri du chat syndrome) region Loss
ISCA-37406-Loss	region		NHS GMS;Expert Review Green;ClinGen	Severe microcephaly		Neurology	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	100;0;0	8.43	False					16			3725055	3880120				3		60	cnv_loss	16p13.3 region (includes CREBBP) Loss
ISCA-37408-Loss	region		NHS GMS;Expert Review Green;ClinGen	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies				16963482;22579565;18245392		False	3	100;0;0	8.43	False					2			58912065	62261736				3		60	cnv_loss	2p15p16.1 region (includes BCL11A) Loss
ISCA-37425-Gain	region		NHS GMS;Expert Review Green;ClinGen	Severe microcephaly		Neurology	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	100;0;0	8.43	False					5			176301976	177620792					3	60	cnv_gain	5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
ISCA-37501-Loss	region		NHS GMS;Expert Review Green;Expert list	Severe microcephaly		Neurology	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	8.43	False					17			60035641	62198448				3		60	cnv_loss	17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
ISCA-46742-Loss	region		ClinGen;Expert Review Green	Severe microcephaly		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					27633570;32562408;29274487;29220674		False	3	100;0;0	8.43	False					7			5497217	5760091				3		60	cnv_loss	7p22.1 region (includes ACTB) Loss
ISCA-46300-Loss	region		Expert Review Amber;ClinGen	Severe microcephaly		Neurology	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	2	0;100;0	8.43	False					15			75339446	75680568				3		60	cnv_loss	15q24 recurrent region (LCR C-LCR D) (includes SIN3A) Loss
ISCA-46743-Loss	region		Expert Review Amber;ClinGen	Severe microcephaly		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)					30158690;33758131		False	2	0;100;0	8.43	False					X			123900469	124102669				3		60	cnv_loss	Xq25 region (includes STAG2) Loss