Microcephaly (Version 1.269)

Description

This panel was developed and is maintained by VCGS.

It contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.

This panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.

Panel Activity

35 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Tiong Tan (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Paul De Fazio (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Belinda Chong (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Liyan Song (Monash Health)
Rylee Peters (Victorian Clinical Genetics Services)
Mark Cleghorn (Royal Melbourne Hospital)
Teresa Zhao (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Anna Ritchie (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Karina Sandoval (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)

334 Entities

334 reviewed, 267 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 334 Entitiess
Green Green List (high evidence)	AARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339 Tags
Green Green List (high evidence)	ADARB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Intellectual disability microcephaly seizures Tags
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes KINSSHIP syndrome, MIM# 619297 Tags
Green Green List (high evidence)	AGMO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, AGMO-related Tags
Green Green List (high evidence)	ANKLE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 16, primary, autosomal recessive, MIM# 616681 Tags
Green Green List (high evidence)	AP3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Developmental and epileptic encephalopathy 48, MIM# 617276 Tags
Green Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 51, autosomal recessive, MIM# 613744 Tags
Green Green List (high evidence)	AP4M1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 50, autosomal recessive (MIM#612936) Tags
Green Green List (high evidence)	AP4S1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 52, autosomal recessive (MIM#614067) Tags
Green Green List (high evidence)	ARCN1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Tags
Green Green List (high evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Periventricular heterotopia with microcephaly (MIM#608097) Tags
Green Green List (high evidence)	ARPC4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, ARPC4-related MONDO#0700092 Tags
Green Green List (high evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 5, primary, autosomal recessive, MIM#608716 Tags
Green Green List (high evidence)	ATP1A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602 Tags
Green Green List (high evidence)	ATP6V0C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Tags
Green Green List (high evidence)	ATP9A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Tags
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seckel syndrome 1, MIM# 210600 Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	AUTS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 26 MIM#615834 Tags
Green Green List (high evidence)	BCAS3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bloom syndrome (MIM#210900) Tags
Green Green List (high evidence)	BPTF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755 Tags
Green Green List (high evidence)	BRCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group D1 (MIM#605724) Tags
Green Green List (high evidence)	BRD4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 6, MIM# 620568 Tags SV/CNV
Green Green List (high evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group J (MIM#609054) Tags treatable
Green Green List (high evidence)	BUB1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mosaic variegated aneuploidy syndrome 1 (MIM#257300) Tags
Green Green List (high evidence)	CAMK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 54, MIM# 617799 microcephaly intellectual disability behavioural problems Tags
Green Green List (high evidence)	CAMSAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Tags
Green Green List (high evidence)	CASK	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749 Tags
Green Green List (high evidence)	CCDC88A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PEHO syndrome-like (MIM#617507) Tags
Green Green List (high evidence)	CCND2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, CCND2-related MONDO# 0700092 Microcephaly, MONDO# 0001149 Tags
Green Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488 Tags
Green Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 4, MIM# 613804 MONDO:0013431 Tags
Green Green List (high evidence)	CENPF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Stromme syndrome (MIM#243605) Tags
Green Green List (high evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029 Seckel syndrome 4, MIM# 613676, MONDO:0013358 Tags
Green Green List (high evidence)	CEP135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephalic primordial dwarfism Microcephaly 8, primary, autosomal recessive, 614673 Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 9, primary, autosomal recessive, MIM# 614852 MONDO:0013923 Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Green Green List (high evidence)	CEP295	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seckel syndrome 11, OMIM # 620767 Tags
Green Green List (high evidence)	CEP55	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 Microcephaly Intellectual disability Tags
Green Green List (high evidence)	CHAMP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 40 (MIM#616579) Tags
Green Green List (high evidence)	CHKA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Tags
Green Green List (high evidence)	CIT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly 17, primary, autosomal recessive (MIM#617090) Tags
Green Green List (high evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Filippi syndrome (MIM#272440) Tags
Green Green List (high evidence)	CLDN5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disorder, MONDO:0002254, CLDN5-related Tags
Green Green List (high evidence)	COASY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 12, MIM#618266 Tags
Green Green List (high evidence)	CPSF3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Menke-Hennekam syndrome 1(MIM#618332) Rubinstein-Taybi syndrome 1(MIM#180849) Tags
Green Green List (high evidence)	CRIPT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature with microcephaly and distinctive facies (MIM#615789) Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	CRNKL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CSNK2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Okur-Chung neurodevelopmental syndrome MIM#617062 Tags
Green Green List (high evidence)	CTCF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 21 (MIM#615502) Tags
Green Green List (high evidence)	CTNNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Brain Malformations Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Tags
Green Green List (high evidence)	CTNNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects (MIM#615075) Exudative vitreoretinopathy 7 (MIM#617572) Tags
Green Green List (high evidence)	CTU2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142) Tags
Green Green List (high evidence)	DDX11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Warsaw breakage syndrome, MIM# 613398 MONDO:0013252 Tags
Green Green List (high evidence)	DDX3X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958) Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DIAPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Seizures, cortical blindness, microcephaly syndrome 616632 Tags
Green Green List (high evidence)	DNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seckel syndrome 8, MIM#615807 Tags
Green Green List (high evidence)	DNMT3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual disability microcephaly short stature Tags
Green Green List (high evidence)	DOHH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Tags
Green Green List (high evidence)	DONSON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and limb abnormalities, MIM# 617604 Microcephaly-micromelia syndrome, MIM# 251230 MONDO:0009619 Tags
Green Green List (high evidence)	DPM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ie 608799 Tags
Green Green List (high evidence)	DRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tan-Almurshedi syndrome, MIM# 620641 Tags
Green Green List (high evidence)	DTYMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Tags
Green Green List (high evidence)	DYNC1I2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Tags
Green Green List (high evidence)	DYRK1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 7, MIM# 614104 MONDO:0013578 Tags SV/CNV
Green Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 Tags
Green Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MEHMO syndrome, MIM# 300148 Tags
Green Green List (high evidence)	EIF3F	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes EIF3F-related neurodevelopmental disorder Mental retardation, autosomal recessive 67, MIM# 618295 Tags
Green Green List (high evidence)	EIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Faundes-Banka syndrome, MIM# 619376 Intellectual disability microcephaly dysmorphism Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group Q (MIM#615272) Cockayne syndrome (MIM#278760) Tags
Green Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cockayne syndrome, type B, MIM#133540 Cerebrooculofacioskeletal syndrome 1, MIM#214150 De Sanctis-Cacchione syndrome, MIM#278800 Tags
Green Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cockayne syndrome, type A, MIM# 216400 Tags
Green Green List (high evidence)	EXOC7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes brain atrophy seizures developmental delay microcephaly Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Fanconi anemia, complementation group A (MIM#227650) Tags
Green Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Fanconi anemia, complementation group B, MIM# 300514 Tags
Green Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group C (MIM#227645) Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Fanconi anemia 227646 Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group E, MIM#600901 Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group F, MIM# 603467 Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group G MIM#614082 Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group I (MIM#609053) Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fanconi anemia, complementation group L, MIM# 614083 Tags
Green Green List (high evidence)	FBRSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Malformation and intellectual disability syndrome Tags
Green Green List (high evidence)	FDXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM# 617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Green Green List (high evidence)	FILIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Tags
Green Green List (high evidence)	FOXG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rett syndrome, congenital variant, MIM# 613454 Tags
Green Green List (high evidence)	FRA10AC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Tags
Green Green List (high evidence)	GABRB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 43 MIM#617113 Tags
Green Green List (high evidence)	GINS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Tags
Green Green List (high evidence)	GMNN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Meier-Gorlin syndrome 6, MIM# 616835 Tags
Green Green List (high evidence)	GOLGA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Tags
Green Green List (high evidence)	GON7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 9, MIM# 619603 Tags founder
Green Green List (high evidence)	GPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green Green List (high evidence)	GRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, microcephaly, developmental delay neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922 Tags
Green Green List (high evidence)	GTPBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), GTPBP1-related Tags
Green Green List (high evidence)	GTPBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Jaberi-Elahi syndrome, MIM#617988 Tags
Green Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Green Green List (high evidence)	HHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nivelon-Nivelon-Mabille syndrome 600092 Tags
Green Green List (high evidence)	HIST1H4C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 Tags new gene name
Green Green List (high evidence)	HIST1H4E	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950 Tags new gene name
Green Green List (high evidence)	HMGB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay and microcephaly, no OMIM # Tags
Green Green List (high evidence)	HPDL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MIM#619026) Tags
Green Green List (high evidence)	IARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093 Tags new gene name
Green Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IGF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM# 608747 Tags
Green Green List (high evidence)	IGF1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Insulin-like growth factor I, resistance to, MIM# 270450 Tags
Green Green List (high evidence)	KCNJ6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Keppen-Lubinsky syndrome, MIM# 614098 MONDO:0013572 Tags
Green Green List (high evidence)	KCNK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA) Tags
Green Green List (high evidence)	KIF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green Green List (high evidence)	KIF14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 20, primary, autosomal recessive, MIM# 617914 Tags
Green Green List (high evidence)	KIF1BP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags new gene name
Green Green List (high evidence)	KIF21B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Abnormality of brain morphology Microcephaly Tags
Green Green List (high evidence)	KIF2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Tags
Green Green List (high evidence)	KMT2E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes O'Donnell-Luria-Rodan syndrome MIM#618512 Tags
Green Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 4, primary, autosomal recessive, MIM# 604321 MONDO:0011437 Tags
Green Green List (high evidence)	LAGE3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 2, X-linked, MIM# 301006 Tags
Green Green List (high evidence)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alazami syndrome, MIM# 615071 Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Tags
Green Green List (high evidence)	LHX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO: 0700092) Tags
Green Green List (high evidence)	LIG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags
Green Green List (high evidence)	LMNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microcephaly 26, primary, autosomal dominant, MIM# 619179 Global developmental delay Intellectual disability Microcephaly Short stature Seizures Abnormality of the corpus callosum Cortical gyral simplification Feeding difficulties Scoliosis Tags
Green Green List (high evidence)	LMNB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Microcephaly 27, primary, autosomal dominant, MIM# 619180 Congenital microcephaly Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 MONDO:0009617 Tags
Green Green List (high evidence)	MECP2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rett syndrome, MIM# 312750 Encephalopathy, neonatal severe 300673 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668 Tags
Green Green List (high evidence)	MFSD2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 15, primary, autosomal recessive, MIM# 616486 Tags
Green Green List (high evidence)	MINPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 16, MIM# 619527 Tags
Green Green List (high evidence)	MORC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Developmental delay Intellectual disability Growth retardation Microcephaly Craniofacial dysmorphism Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Tags
Green Green List (high evidence)	MSMO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834 MONDO:0014793 Tags
Green Green List (high evidence)	MTSS1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 Tags
Green Green List (high evidence)	MYCN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Feingold syndrome 1, MIM# 164280 Tags
Green Green List (high evidence)	MYH10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) Tags
Green Green List (high evidence)	NAA20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 73, MIM# 619717 Tags
Green Green List (high evidence)	NALCN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419 Tags
Green Green List (high evidence)	NAPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 107 MIM#620033 Tags
Green Green List (high evidence)	NARS	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092 Tags new gene name
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nijmegen breakage syndrome, MIM# 251260 MONDO:0009623 Tags
Green Green List (high evidence)	NCAPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 21, primary, autosomal recessive OMIM #617983 Tags
Green Green List (high evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 4 (with microcephaly), MIM# 614019 MONDO:0013527 Microhydranencephaly, MIM# 605013 MONDO:0011504 Tags
Green Green List (high evidence)	NHEJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291 Cernunnos-XLF deficiency MONDO:0012650 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 1, MIM# 122470 Tags
Green Green List (high evidence)	NSD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rauch-Steindl syndrome, MIM# 619695 Microcephaly intellectual disability Tags
Green Green List (high evidence)	NSRP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green Green List (high evidence)	NUP107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 7, MIM# 618348 Tags founder
Green Green List (high evidence)	NUP188	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation Tags
Green Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 1, MIM# 224690 MONDO:0009143 Tags
Green Green List (high evidence)	ORC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 2, MIM# 613800 MONDO:0013428 Tags
Green Green List (high evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 3, MIM# 613803 Tags
Green Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags SV/CNV
Green Green List (high evidence)	PARP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy Microcephaly Tags
Green Green List (high evidence)	PCDH12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Tags
Green Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720 MONDO:0008872 Tags
Green Green List (high evidence)	PDHA1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 Tags
Green Green List (high evidence)	PIGH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green Green List (high evidence)	PIP5K1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Tags
Green Green List (high evidence)	PLK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy microcephaly intellectual disability Tags
Green Green List (high evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Tags
Green Green List (high evidence)	PNKP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, seizures, and developmental delay, MIM# 613402 MONDO:0013254 Tags
Green Green List (high evidence)	POC1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813 Tags
Green Green List (high evidence)	POGZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes White-Sutton syndrome, MIM# 616364 Tags
Green Green List (high evidence)	POLE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes IMAGE-I syndrome, MIM# 618336 Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670 Tags
Green Green List (high evidence)	PPFIBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 Tags
Green Green List (high evidence)	PPIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 14, MIM# 619301 microcephaly seizures Tags
Green Green List (high evidence)	PPP2R1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Tags
Green Green List (high evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renpenning syndrome, MIM# 309500 Tags
Green Green List (high evidence)	PRUNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481 Tags
Green Green List (high evidence)	PTPN23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Tags
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Verheij syndrome, MIM# 615583 Tags
Green Green List (high evidence)	PUS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342 Tags
Green Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 3, MIM# 614222 Tags founder
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 1, MIM# 600118 Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225 Tags
Green Green List (high evidence)	RABGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Tags
Green Green List (high evidence)	RAC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 48, MIM# 617751 Tags
Green Green List (high evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 4, MIM# 614701 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 6, MIM# 611523 Tags
Green Green List (high evidence)	RBBP8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jawad syndrome, MIM# 251255 Seckel syndrome 2, MIM# 606744 Tags
Green Green List (high evidence)	RNF113A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953 Tags
Green Green List (high evidence)	RNU4ATAC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710 Tags
Green Green List (high evidence)	RPL10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, 35, MIM# 300998 Tags
Green Green List (high evidence)	RTTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833 Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764 Tags
Green Green List (high evidence)	SARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#070009, SARS1-related Tags
Green Green List (high evidence)	SASS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 14, primary, autosomal recessive, MIM# 616402 Tags
Green Green List (high evidence)	SETD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Rabin-Pappas syndrome,MIM# 620155 Tags
Green Green List (high evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 MONDO:0014725 Tags founder
Green Green List (high evidence)	SLC2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 Tags
Green Green List (high evidence)	SLC38A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 102, MIM# 619881 Tags
Green Green List (high evidence)	SLC4A10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Tags
Green Green List (high evidence)	SLC9A6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 Tags
Green Green List (high evidence)	SLF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 1, MIM# 620184 Tags
Green Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fanconi anemia, complementation group P, MIM#613951 Tags
Green Green List (high evidence)	SMARCA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder microcephaly dysmorphic features Tags
Green Green List (high evidence)	SMC1A	1 review 1 green	Other	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 2, MIM# 300590 Tags
Green Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 3, MIM# 610759 Tags
Green Green List (high evidence)	SMC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 2, MIM# 620185 Tags
Green Green List (high evidence)	SMO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, congenital heart disease, polydactyly, aganglionosis Pallister-Hall-like syndrome , MIM#241800 Tags
Green Green List (high evidence)	SNAPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515 Tags
Green Green List (high evidence)	SOX11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Tags
Green Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags
Green Green List (high evidence)	SPATA5L1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green Green List (high evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 7, primary, autosomal recessive, MIM# 612703 MONDO:0012989 Tags
Green Green List (high evidence)	SVBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM #618569 Tags founder
Green Green List (high evidence)	TAF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 40, MIM# 615599 Tags
Green Green List (high evidence)	TAF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972 Tags
Green Green List (high evidence)	TBC1D20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 4, MIM# 615663 Tags
Green Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins syndrome, MIM# 610954 Tags
Green Green List (high evidence)	THUMPD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989 Tags
Green Green List (high evidence)	TMEM222	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470 Intellectual disability Epilepsy Microcephaly Tags
Green Green List (high evidence)	TMX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly ID brain malformations Tags
Green Green List (high evidence)	TNPO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green Green List (high evidence)	TOP3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Tags
Green Green List (high evidence)	TP53RK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 4, MIM# 617730 Tags
Green Green List (high evidence)	TPRKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 5, MIM# 617731 Tags
Green Green List (high evidence)	TRA2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 Tags
Green Green List (high evidence)	TRAIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seckel syndrome 9, MIM# 616777 Tags
Green Green List (high evidence)	TRAPPC10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 Tags
Green Green List (high evidence)	TRAPPC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669 Tags
Green Green List (high evidence)	TRAPPC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Tags
Green Green List (high evidence)	TRAPPC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 13, MIM# 613192 Tags SV/CNV
Green Green List (high evidence)	TRIO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 44, MIM# 617061 Tags
Green Green List (high evidence)	TRIP13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Tags founder
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 MONDO:0000208 Tags
Green Green List (high evidence)	TSEN15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 2F MIM#617026 Tags
Green Green List (high evidence)	TSEN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2B (MIM#612389) Tags
Green Green List (high evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753) Tags
Green Green List (high evidence)	TTC5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244 Intellectual disability microcephaly Tags
Green Green List (high evidence)	TTI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green Green List (high evidence)	TTI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Mental retardation, autosomal recessive 39 (MIM#615541) Tags
Green Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 7 MIM#610031 Tags
Green Green List (high evidence)	TUBGCP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lissencephaly pachygyria subcortical band heterotopia microcephaly intellectual disability Tags
Green Green List (high evidence)	TUBGCP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335 Tags
Green Green List (high evidence)	TUBGCP6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Green Green List (high evidence)	UBE3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Angelman syndrome MIM#105830 Tags SV/CNV
Green Green List (high evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485 Tags
Green Green List (high evidence)	UFC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity and poor growth (MIM#618076) Tags
Green Green List (high evidence)	UFM1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 14 MIM#617899 Tags founder
Green Green List (high evidence)	UGP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy intellectual disability microcephaly Tags
Green Green List (high evidence)	UNC80	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Green Green List (high evidence)	VARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM #617802 Tags
Green Green List (high evidence)	VPS4A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CIMDAG syndrome MIM# 619273 Tags
Green Green List (high evidence)	VPS50	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags
Green Green List (high evidence)	VRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 1A MIM#607596 Tags
Green Green List (high evidence)	WARS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Tags
Green Green List (high evidence)	WDFY3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Microcephaly 18, primary, autosomal dominant, MIM#617520 Tags
Green Green List (high evidence)	WDR11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 78, MIM# 620237 Intellectual disability Microcephaly Short stature Tags
Green Green List (high evidence)	WDR37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurooculocardiogenitourinary syndrome MIM#618652 Tags
Green Green List (high evidence)	WDR4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 6 MIM#618347 Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317 MONDO:0011435 Tags
Green Green List (high evidence)	WDR73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 1 MIM#251300 Tags
Green Green List (high evidence)	WLS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic structural birth defects Tags
Green Green List (high evidence)	XRCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature, microcephaly, and endocrine dysfunction (MIM#616541) Tags
Green Green List (high evidence)	YIF1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kaya-Barakat-Masson syndrome, MIM# 619125 Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Green Green List (high evidence)	YIPF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Tags
Green Green List (high evidence)	YRDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome Tags
Green Green List (high evidence)	ZBTB18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mental retardation, autosomal dominant 22, MIM# 612337 Tags
Green Green List (high evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags SV/CNV
Green Green List (high evidence)	ZNF335	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 10, primary, autosomal recessive (MIM#615095) Tags
Green Green List (high evidence)	ZNF526	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green Green List (high evidence)	ZNHIT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes PEHO syndrome, MIM# 260565 Tags founder
Amber Amber List (moderate evidence)	ADD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebral palsy, spastic quadriplegic, 3 617008 Tags
Amber Amber List (moderate evidence)	AKT3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly Tags SV/CNV
Amber Amber List (moderate evidence)	BUB1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary microcephaly-30 (MCPH30), MIM#620183 Tags
Amber Amber List (moderate evidence)	C7orf43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 25, primary, autosomal recessive, MIM# 618351 Tags new gene name
Amber Amber List (moderate evidence)	CCDC84	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mosaic variegated aneuploidy syndrome 4 (MIM#620153) Tags
Amber Amber List (moderate evidence)	CDK13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MIM#617360) Tags
Amber Amber List (moderate evidence)	CDK6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly 12, primary, autosomal recessive, MIM#616080 Tags
Amber Amber List (moderate evidence)	CDKL5	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 2 (MIM#300672) Tags
Amber Amber List (moderate evidence)	CEP63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Seckel syndrome 6, MIM#614728 Tags
Amber Amber List (moderate evidence)	CHD4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Sifrim-Hitz-Weiss syndrome (MIM#617159) Tags
Amber Amber List (moderate evidence)	CLTC	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 56 (MIM#617854) Tags
Amber Amber List (moderate evidence)	COG3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber Amber List (moderate evidence)	COPB2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Microcephaly 19, primary, autosomal recessive, MIM# 617800 Tags
Amber Amber List (moderate evidence)	CYHR1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related Tags new gene name
Amber Amber List (moderate evidence)	DCAF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Tags
Amber Amber List (moderate evidence)	DNM1L	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 Tags
Amber Amber List (moderate evidence)	DROSHA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Tags
Amber Amber List (moderate evidence)	EHMT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Kleefstra syndrome 1 MIM#610253 Tags
Amber Amber List (moderate evidence)	ERCC5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebrooculofacioskeletal syndrome 3 MIM#616570 Tags
Amber Amber List (moderate evidence)	FOXR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Postnatal microcephaly, progressive brain atrophy and global developmental delay Tags
Amber Amber List (moderate evidence)	FRMD4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Tags
Amber Amber List (moderate evidence)	KLHL7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes PERCHING syndrome, MIM# 617055 Tags
Amber Amber List (moderate evidence)	LINGO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 64, MIM# 618103 Tags
Amber Amber List (moderate evidence)	MCM6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, MCM6-related Tags
Amber Amber List (moderate evidence)	MCM7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Meier-Gorlin syndrome Microcephaly Intellectual disability Lipodystrophy Adrenal insufficiency Tags
Amber Amber List (moderate evidence)	MRE11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Nijmegen breakage syndrome-like severe microcephaly Tags
Amber Amber List (moderate evidence)	NACC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination , MIM#617393 Tags
Amber Amber List (moderate evidence)	NCAPD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly 22, primary, autosomal recessive, MIM# 617984 Tags
Amber Amber List (moderate evidence)	NDUFA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Tags
Amber Amber List (moderate evidence)	NSMCE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes SECKEL SYNDROME 10 Tags
Amber Amber List (moderate evidence)	NUP85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary microcephaly Tags
Amber Amber List (moderate evidence)	PCGF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Turnpenny-Fry syndrome, MIM# 618371 Tags
Amber Amber List (moderate evidence)	PDCD6IP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 29, primary, autosomal recessive, MIM# 620047 Tags
Amber Amber List (moderate evidence)	PHC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly 11, primary, autosomal recessive, MIM#615414 Tags
Amber Amber List (moderate evidence)	PPP1R15B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Tags
Amber Amber List (moderate evidence)	PRIM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Tags deep intronic founder
Amber Amber List (moderate evidence)	RBL2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe motor and cognitive impairment Intellectual disability Brunet-Wagner neurodevelopmental syndrome MIM#619690 Tags
Amber Amber List (moderate evidence)	RRP7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 28, primary, autosomal recessive MIM#619453 Tags
Amber Amber List (moderate evidence)	RUSC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 61, MIM# 617773 Tags
Amber Amber List (moderate evidence)	SEC31A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651 Tags
Amber Amber List (moderate evidence)	SELENOI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures microcephaly bifid uvula in some affected individuals Tags
Amber Amber List (moderate evidence)	SLC25A19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly, Amish type, MIM# 607196 Tags founder
Amber Amber List (moderate evidence)	SOX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lamb-Shaffer syndrome, MIM#616803 Tags
Amber Amber List (moderate evidence)	STAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 47, MIM# 617635 Tags
Amber Amber List (moderate evidence)	SV2A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 113, MIM# 620772 Tags
Amber Amber List (moderate evidence)	TRIT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 35 MIM#617873 Tags
Amber Amber List (moderate evidence)	VPS51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pontocerebellar hypoplasia, type 13, MIM# 618606 Tags
Amber Amber List (moderate evidence)	WNK3	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Prieto syndrome, MIM# 309610 Tags
Amber Amber List (moderate evidence)	ZNF668	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Tags
Red Red List (low evidence)	ATRIP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Seckel Syndrome Tags
Red Red List (low evidence)	CDC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Meier-Gorlin syndrome 5 (MIM#613805) Tags
Red Red List (low evidence)	CENPE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microcephaly 13, primary, autosomal recessive (MIM#616051) Tags
Red Red List (low evidence)	COPB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts Tags
Red Red List (low evidence)	DPP6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Intellectual disability, autosomal dominant 33 (MIM#616311) Tags disputed SV/CNV
Red Red List (low evidence)	KIF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Braddock-Carey syndrome 2 - MIM#619981 Tags
Red Red List (low evidence)	KIF26B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Tags
Red Red List (low evidence)	NAT8L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	NCAPH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microcephaly 23, primary, autosomal recessive 617985 Tags
Red Red List (low evidence)	NIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Seckel syndrome 7, MIM#614851 Tags
Red Red List (low evidence)	NUF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes microcephaly short stature bilateral vocal cord paralysis micrognathia atrial septal defect Tags
Red Red List (low evidence)	NUP37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Microcephaly 24, primary, autosomal recessive, MIM# 618179 Tags
Red Red List (low evidence)	PCYT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 82, autosomal recessive 618770 Tags
Red Red List (low evidence)	RGS6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RGS6-related Tags
Red Red List (low evidence)	TOGARAM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cleft of the lip and palate Microphthalmia Cerebral dysgenesis Hydrocephalus Tags
Red Red List (low evidence)	TPR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Tags
Red Red List (low evidence)	TSEN34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2C, MIM# 612390 Tags
Red Red List (low evidence)	USP18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 2 MIM#617397 Tags

Major version comments

2021-04-05 07:18 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Microcephaly (Version 1.269)

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