Cerebral Palsy (Version 1.389)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 363 Entitiess
Green Green List (high evidence)	ACADM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Baraitser-Winter syndrome 1 MIM#243310 Tags
Green Green List (high evidence)	ADAR	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	ADAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM# 615286 Tags
Green Green List (high evidence)	ADCY5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dyskinesia with orofacial involvement MIM#606703 Tags
Green Green List (high evidence)	ADD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cerebral palsy, spastic quadriplegic, 3 617008 Tags
Green Green List (high evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Helsmoortel-van der Aa syndrome MIM#615873 Tags
Green Green List (high evidence)	AHDC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Xia-Gibbs syndrome, MIM#615829 Tags
Green Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sjogren-Larsson syndrome, MIM# 270200 Tags
Green Green List (high evidence)	ALS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paralysis, infantile onset ascending, MIM# 607225 Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 9, MIM# 615809 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	2 reviews 2 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	1 review 1 green	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)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Argininemia MIM#207800 Tags
Green Green List (high evidence)	ARID2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome, MIM#617808 Tags
Green Green List (high evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Developmental and epileptic encephalopathy 1, MIM# 308350 Lissencephaly, X-linked 2, MIM# 300215 Proud syndrome, MIM# 300004 Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Bohring-Opitz syndrome (MIM 605039) Tags
Green Green List (high evidence)	ASXL3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Bainbridge-Ropers syndrome, MIM# 615485 Tags
Green Green List (high evidence)	ATL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cerebral palsy Spastic paraplegia 3A, autosomal dominant (OMIM 182600 ) Tags
Green Green List (high evidence)	ATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ataxia-telangiectasia, MIM#208900 Tags
Green Green List (high evidence)	ATP1A3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Alternating hemiplegia of childhood 2, MIM# 614820 CAPOS syndrome, MIM# 601338 Dystonia-12, MIM# 128235 Tags
Green Green List (high evidence)	ATP7A	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 Menkes disease MIM#3094009 Tags
Green Green List (high evidence)	ATP8A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome, MIM#615268 Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	AUTS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags SV/CNV
Green Green List (high evidence)	BCAP31	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green Green List (high evidence)	BCL11A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Dias-Logan syndrome, MIM# 617101 Tags
Green Green List (high evidence)	CACNA1A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Spinocerebellar ataxia 6, MIM# 183086 Tags
Green Green List (high evidence)	CACNA1G	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Tags
Green Green List (high evidence)	CAMTA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, MIM# 614756 Tags SV/CNV
Green Green List (high evidence)	CASK	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 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Tags
Green Green List (high evidence)	CHD8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with autism and macrocephaly #615032 Tags
Green Green List (high evidence)	CLTC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder MIM#617854 Tags
Green Green List (high evidence)	COL4A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Hemorrhage, intracerebral, susceptibility to}, MIM# 614519 Brain small vessel disease MIM#614483 Tags
Green Green List (high evidence)	COL4A2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Brain small vessel disease 2 MIM# 614483 Tags
Green Green List (high evidence)	CREBBP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849 Tags
Green Green List (high evidence)	CSMD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CTNNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations MIM#618174 Tags
Green Green List (high evidence)	CTNNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075 Tags
Green Green List (high evidence)	CYP2U1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Spastic paraplegia 56, autosomal recessive MIM# 615030 Tags
Green Green List (high evidence)	DDC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency MIM# 608643 Tags
Green Green List (high evidence)	DDHD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Spastic paraplegia 54, autosomal recessive MIM# 615033 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 list Expert Review Green Phenotypes Cerebral Palsy Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Adams-Oliver syndrome 2 MIM#614219 Tags
Green Green List (high evidence)	DYNC1H1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex MIM#614563 Tags
Green Green List (high evidence)	DYRK1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder MIM#614104 Tags
Green Green List (high evidence)	EARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Combined oxidative phosphorylation deficiency 12 MIM# 614924 Tags
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 Tags
Green Green List (high evidence)	ELOVL1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Tags
Green Green List (high evidence)	ELP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder MIM#617270 Tags
Green Green List (high evidence)	ERCC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cockayne syndrome MIM#216400 Tags
Green Green List (high evidence)	ESAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MIM#620371 Tags
Green Green List (high evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia MIM#614678 Tags
Green Green List (high evidence)	FAR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cataracts, spastic paraparesis, and speech delay MIM#619338 Tags
Green Green List (high evidence)	FARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency MIM#614946 3 Spastic paraplegia MIM#617046 Tags
Green Green List (high evidence)	FBXO31	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cerebral palsy, MONDO:0006497, FBXO31-related Tags
Green Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fumarase deficiency MIM#606812 Tags
Green Green List (high evidence)	FOXG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Rett syndrome, congenital variant MIM# 613454 Tags
Green Green List (high evidence)	GCDH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric aciduria, type I MIM#231670 Tags
Green Green List (high evidence)	GCH1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, DOPA-responsive, MIM#128230 Hyperphenylalaninemia, BH4-deficient, B, MIM#233910 Tags
Green Green List (high evidence)	GNAO1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Neurodevelopmental disorder with involuntary movements MIM# 617493 Tags
Green Green List (high evidence)	GNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Mental retardation, autosomal dominant 42 MIM# 616973 Tags
Green Green List (high evidence)	GRIN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MIM#614254 AD Tags
Green Green List (high evidence)	GRIN2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Developmental and epileptic encephalopathy 27 MIM# 616139 Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM# 613970 Tags
Green Green List (high evidence)	HECW2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Neurodevelopmental disorder with hypotonia, seizures, and absent language MIM# 617268 Tags
Green Green List (high evidence)	HPDL	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026 Spastic paraplegia 83, autosomal recessive, MIM# 619027 Tags
Green Green List (high evidence)	HPRT1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Hyperuricemia, HRPT-related MIM#300323 Lesch-Nyhan syndrome MIM#300322 Tags
Green Green List (high evidence)	IFIH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846 Tags
Green Green List (high evidence)	IRF2BPL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MIM#618088 Tags
Green Green List (high evidence)	ITPR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Tags
Green Green List (high evidence)	KAT6A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Arboleda-Tham syndrome MIM#616268 Tags
Green Green List (high evidence)	KCNB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy MIM#616056 Tags
Green Green List (high evidence)	KCNC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 13, MIM# 605259 Tags
Green Green List (high evidence)	KCNQ2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 7 - #613720 Tags
Green Green List (high evidence)	KCNT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy MIM#614959 Tags
Green Green List (high evidence)	KDM5C	2 reviews 2 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 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KIDINS220	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296 Ventriculomegaly and arthrogryposis - #619501 Tags
Green Green List (high evidence)	KIF1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 30, autosomal dominant, MIM# 610357 Tags
Green Green List (high evidence)	KMT2A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Wiedemann-Steiner syndrome - #605130 Tags
Green Green List (high evidence)	KMT2B	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset MIM#617284 Intellectual developmental disorder, autosomal dominant MIM#619934 Tags
Green Green List (high evidence)	L1CAM	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CRASH syndrome, MIM# 303350 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cardiofaciocutaneous syndrome MIM#615279 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucolipidosis IV MIM#252650 Tags
Green Green List (high evidence)	MECP2	2 reviews 2 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 Literature Phenotypes Encephalopathy, neonatal severe - 300673 Intellectual developmental disorder, X-linked syndromic, Lubs type - 300260 Intellectual developmental disorder, X-linked, syndromic 13 - 300055 Rett syndrome - 312750 Tags
Green Green List (high evidence)	MEF2C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443 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)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Molybdenum cofactor deficiency B MIM#252160 Tags
Green Green List (high evidence)	MSL3	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 Basilicata-Akhtar syndrome MIM#301032 Tags
Green Green List (high evidence)	MT-TL1	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Phenotypes MELAS MIM#540000 Tags mtDNA
Green Green List (high evidence)	NAA10	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 Ogden syndrome MIM#300855 Tags
Green Green List (high evidence)	NDUFAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebral palsy Mitochondrial complex I deficiency nuclear type 10 (OMIM 618233) Tags
Green Green List (high evidence)	NGLY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of deglycosylation (OMIM 615273) Tags
Green Green List (high evidence)	NKX2-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978 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)	NT5C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 45, autosomal recessive, MIM# 613162 Tags
Green Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lissencephaly MIM#607432 Subcortical laminar heterotopia MIM#607432 Tags
Green Green List (high evidence)	PAK3	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 30, MIM# 300558 Tags
Green Green List (high evidence)	PANK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes HARP syndrome ( OMIM 607236) Neurodegeneration with brain iron accumulation 1 (OMIM 234200) Tags
Green Green List (high evidence)	PCDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1 (OMIM 251280) Tags
Green Green List (high evidence)	PCYT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 82, autosomal recessive 618770 Tags
Green Green List (high evidence)	PDHA1	2 reviews 2 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 Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Tags
Green Green List (high evidence)	PDHX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lacticacidemia due to PDX1 deficiency MIM#245349 Tags
Green Green List (high evidence)	PHIP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Chung-Jansen syndrome, MIM#617991 Tags
Green Green List (high evidence)	PIGA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868 Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072 Tags
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 (OMIM 614080) Tags
Green Green List (high evidence)	PLA2G6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217 Tags
Green Green List (high evidence)	PLP1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 2, X-linked MIM#312920 Tags
Green Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157 Tags
Green Green List (high evidence)	PROC	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thrombophilia 3 due to protein C deficiency MIM#176860 Thrombophilia 3 due to protein C deficiency MIM#612304 Tags
Green Green List (high evidence)	PRUNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 Tags
Green Green List (high evidence)	PURA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Martsolf syndrome 2 MIM#619420 Warburg micro syndrome MIM#600118 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 6 MIM#611523 Tags
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 4 OMIM #610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 2 OMIM #610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 3 OMIM #610329 Tags
Green Green List (high evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags SV/CNV
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 5 OMIM #612952 Tags
Green Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Glass syndrome MIM#612313 Tags
Green Green List (high evidence)	SCN1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317) Dravet syndrome (OMIM 607208) Tags
Green Green List (high evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721 Tags
Green Green List (high evidence)	SCN8A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral Palsy Epileptic encephalopathy 13 MIM# 614558 Cognitive impairment with or without cerebellar ataxia MIM# 614306 Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia type 2D MIM#613811 Tags
Green Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Allan-Herndon-Dudley syndrome MIM#300523 Tags
Green Green List (high evidence)	SLC2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Disorders of glucose transport Tags
Green Green List (high evidence)	SLC5A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia, infantile, 1 MIM#613135 Tags
Green Green List (high evidence)	SLITRK2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked MIM#301107 Tags
Green Green List (high evidence)	SPAST	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy (PMID:32989326) Tags
Green Green List (high evidence)	SPATA5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Tags new gene name
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)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green Green List (high evidence)	SPR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716 Tags
Green Green List (high evidence)	SPTAN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 5 OMIM #613477 Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538 Tags
Green Green List (high evidence)	SPTBN2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 5 MIM#600224 Spinocerebellar ataxia, autosomal recessive 14 MIM#615386 Tags
Green Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Salt and pepper developmental regression syndrome MIM#609056 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly-capillary malformation syndrome MIM#614261 Tags
Green Green List (high evidence)	STXBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sulfite oxidase deficiency MIM#272300 Tags
Green Green List (high evidence)	SYNGAP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 5 MIM#612621 Tags
Green Green List (high evidence)	TAF1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966 Dystonia-Parkinsonism, X-linked, OMIM #314250 Tags
Green Green List (high evidence)	TCF4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Pitt-Hopkins syndrome, MIM# 610954 Tags
Green Green List (high evidence)	TH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Segawa syndrome, recessive MIM#605407 Tags
Green Green List (high evidence)	TMX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730 Tags
Green Green List (high evidence)	TNR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653 Spastic para- or tetraparesis Axial muscular hypotonia Intellectual disability Transient opisthotonus Tags
Green Green List (high evidence)	TRAPPC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive MIM#13 613192 Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM #225750 Tags
Green Green List (high evidence)	TUBA1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, MIM# 611603 Cerebral palsy Tags
Green Green List (high evidence)	TUBB2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations MIM# 615763 Tags
Green Green List (high evidence)	TUBB2B	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM # 610031 Tags
Green Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations MIM#614039 Tags
Green Green List (high evidence)	TUBB4A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 4, torsion, autosomal dominant, OMIM #128101 Leukodystrophy, hypomyelinating, 6, OMIM # 612438 Tags
Green Green List (high evidence)	UBE3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Literature Phenotypes Angelman syndrome , OMIM #105830 Tags
Green Green List (high evidence)	VPS13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green Green List (high evidence)	WDR26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Skraban-Deardorff syndrome MIM#617616 Tags
Green Green List (high evidence)	WDR45	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 Neurodegeneration with brain iron accumulation 5, OMIM # 300894 Tags
Green Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy MIM#616211 Spinocerebellar ataxia MIM#6143223 Tags
Green Green List (high evidence)	ZC4H2	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 Wieacker-Wolff syndrome, MIM# 314580 Tags
Green Green List (high evidence)	ZEB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mowat-Wilson syndrome, OMIM # 235730 Tags
Green Green List (high evidence)	ZSWIM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, OMIM #617865 Tags
Amber Amber List (moderate evidence)	AGAP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy, MONDO:0006497, AGAP1-related Tags SV/CNV
Amber Amber List (moderate evidence)	ALK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spastic-dystonic diplegia Tags
Amber Amber List (moderate evidence)	ARSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Metachromatic leukodystrophy, MIM#250100 Tags
Amber Amber List (moderate evidence)	B4GALNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 26, autosomal recessive, MIM#609195 Tags
Amber Amber List (moderate evidence)	BRAF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cardiofaciocutaneous syndrome, MIM#115150 Tags
Amber Amber List (moderate evidence)	BRAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MIM#618056 neonatal lethal rigidity and multifocal seizure syndrome MIM#614498 Tags
Amber Amber List (moderate evidence)	CACNA1D	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary aldosteronism, seizures and neurologic abnormalities PASNA, MIM#615474 Tags
Amber Amber List (moderate evidence)	CDKL5	2 reviews	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 Literature Phenotypes Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Amber Amber List (moderate evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes CHARGE syndrome, MIM#608892 Tags
Amber Amber List (moderate evidence)	CTBP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915 Tags
Amber Amber List (moderate evidence)	DHPS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI), MIM#618480 Tags
Amber Amber List (moderate evidence)	DHX32	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DHX32-related Tags
Amber Amber List (moderate evidence)	EEF1A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy MIM#616409 Tags
Amber Amber List (moderate evidence)	FRRS1L	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy MIM#616981 Tags
Amber Amber List (moderate evidence)	GABRB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy MIM#617829 Tags
Amber Amber List (moderate evidence)	GALC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Krabbe disease, MIM#245200 Tags
Amber Amber List (moderate evidence)	GSX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Amber Amber List (moderate evidence)	HCFC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541 Tags
Amber Amber List (moderate evidence)	HUWE1	2 reviews	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 Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590 Tags
Amber Amber List (moderate evidence)	IQSEC2	3 reviews 1 green 1 red	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 Amber Phenotypes Intellectual developmental disorder MIM#309530 Tags
Amber Amber List (moderate evidence)	MAPK8IP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, MIM#618443 Tags
Amber Amber List (moderate evidence)	MAST1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MIM#618273 Tags
Amber Amber List (moderate evidence)	MCCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210 Tags
Amber Amber List (moderate evidence)	MED12	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Opitz-Kaveggia syndrome, MIM#305450 Tags
Amber Amber List (moderate evidence)	MMACHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Tags
Amber Amber List (moderate evidence)	MOCS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Molybdenum cofactor deficiency A MIM#252150 Tags
Amber Amber List (moderate evidence)	NALCN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266) Tags
Amber Amber List (moderate evidence)	NDUFA12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic tetraparesis intellectual disability encephalopathy Tags
Amber Amber List (moderate evidence)	NFIX	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Malan syndrome MIM#614753 Marshall-Smith syndrome MIM#602535 Tags
Amber Amber List (moderate evidence)	PIK3R2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387 Tags
Amber Amber List (moderate evidence)	PNPLA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 39 MIM#612020 Tags
Amber Amber List (moderate evidence)	POGZ	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes White-Sutton syndrome MIM#616364 Tags
Amber Amber List (moderate evidence)	POLA1	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 Literature Phenotypes Van Esch-O'Driscoll syndrome, MIM#301030 Tags
Amber Amber List (moderate evidence)	POLG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 4a, MIM#203700, Mitochondrial DNA Depletion Syndrome 4B, MIM#613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), MIM#607459 Tags
Amber Amber List (moderate evidence)	PTPN11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes LEOPARD syndrome 1 MIM#151100 Noonan syndrome MIM#163950 Tags
Amber Amber List (moderate evidence)	PTPN23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 Tags
Amber Amber List (moderate evidence)	REPS2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Cerebral palsy HP:0100021 Tags
Amber Amber List (moderate evidence)	RHOB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Phenotypes Cerebral Palsy (PMID:32989326) Tags
Amber Amber List (moderate evidence)	RNU7-1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Aicardi-Goutières syndrome 9, MIM#619487 Tags
Amber Amber List (moderate evidence)	SETD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 70, MIM#620157 Luscan-Lumish syndrome, MIM#61683 Rabin-Pappas syndrome, MIM#620155 Tags
Amber Amber List (moderate evidence)	SHANK3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Phelan-McDermid syndrome, MIM# 606232 Tags
Amber Amber List (moderate evidence)	SLC13A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 Tags
Amber Amber List (moderate evidence)	SLC1A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 41, MIM#617105 Tags
Amber Amber List (moderate evidence)	SMARCB1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Coffin-Siris syndrome 3, MIM# 614608 Tags
Amber Amber List (moderate evidence)	SNX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 20 MIM#616354 Tags
Amber Amber List (moderate evidence)	SON	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes ZTTK syndrome MIM#617140 Tags
Amber Amber List (moderate evidence)	SYNE1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 Tags
Amber Amber List (moderate evidence)	TANGO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 Tags
Amber Amber List (moderate evidence)	TEP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy, MONDO:0006497, TEP1-related Tags
Amber Amber List (moderate evidence)	THOC2	2 reviews 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 Amber Literature Phenotypes Intellectual developmental disorder, X-linked 12, MIM#300957 Tags
Amber Amber List (moderate evidence)	TSC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Tuberous sclerosis-1 MIM#191100 Tags
Amber Amber List (moderate evidence)	ZDHHC9	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799 Tags
Red Red List (low evidence)	ABCD1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Adrenoleukodystrophy, MIM#300100 Tags
Red Red List (low evidence)	ABHD16A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM#619735 Tags
Red Red List (low evidence)	ACAD9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 20, MIM#611126 Tags
Red Red List (low evidence)	AKT3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Red Red List (low evidence)	ALDH7A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epilepsy, pyridoxine-dependent, MIM#266100 Tags
Red Red List (low evidence)	ARHGEF9	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 8, MIM#300607 Tags
Red Red List (low evidence)	ARID1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Coffin-Siris syndrome 1, MIM#135900 Tags
Red Red List (low evidence)	ARMC9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Joubert syndrome 30, MIM#617622 Tags
Red Red List (low evidence)	ASL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Argininosuccinic aciduria, MIM#207900 Tags
Red Red List (low evidence)	ASPA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Canavan disease, MIM#271900 Tags
Red Red List (low evidence)	ATP1A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Alternating hemiplegia of childhood 1, MIM#104290 Tags
Red Red List (low evidence)	ATP6V1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 93, MIM#618012 Tags
Red Red List (low evidence)	ATP7B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Wilson disease MIM#277900 Tags
Red Red List (low evidence)	ATR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Seckel syndrome, MIM#210600 Tags
Red Red List (low evidence)	BSCL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 17, MIM#270685 Tags
Red Red List (low evidence)	CACNA1B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497 Tags
Red Red List (low evidence)	CAMK2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 54, MIM#617799 Tags
Red Red List (low evidence)	CAMK2G	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 59, MIM#618522 Tags
Red Red List (low evidence)	CCDC22	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Ritscher-Schinzel syndrome 2, MIM#300963 Tags
Red Red List (low evidence)	CEP290	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Joubert syndrome 5, MIM#610188 Tags
Red Red List (low evidence)	CHCHD10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Myopathy, isolated mitochondrial, MIM#616209 Tags
Red Red List (low evidence)	CHD3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Snijders Blok-Campeau syndrome, MIM#618205 Tags
Red Red List (low evidence)	CHD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Sifrim-Hitz-Weiss syndrome, MIM#617159 Tags
Red Red List (low evidence)	CLCN4	2 reviews 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 Red Literature Phenotypes Raynaud-Claes syndrome MIM#300114 Tags
Red Red List (low evidence)	CLCN7	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780 Osteopetrosis, autosomal recessive 4 OPTB4, MIM#602727 Tags
Red Red List (low evidence)	CLN6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neuronal Ceroid Lipofuscinosis 6, MIM#601780 Tags
Red Red List (low evidence)	COL6A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dystonia 27, MIM#616411 Tags
Red Red List (low evidence)	COQ4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Coenzyme Q10 deficiency, primary, MIM#616276 Spastic ataxia 10, autosomal recessive, MIM#620666 Tags
Red Red List (low evidence)	CTCF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 21, MIM#615502 Tags
Red Red List (low evidence)	CUL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496 Tags
Red Red List (low evidence)	CYFIP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 65, MIM#618008 Tags
Red Red List (low evidence)	DCC	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600 Tags
Red Red List (low evidence)	DDX59	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Orofaciodigital syndrome V, MIM#174300 Tags
Red Red List (low evidence)	DHCR7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Smith-Lemli-Opitz syndrome, MIM#270400 Tags
Red Red List (low evidence)	DIAPH1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Seizures, cortical blindness, and microcephaly syndrome, MIM#616632 Tags
Red Red List (low evidence)	DLG4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 62, MIM#618793 Tags
Red Red List (low evidence)	DNM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Charcot-Marie-Tooth disease, axonal type 2M, MIM#606482 Tags
Red Red List (low evidence)	DNMT3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Heyn-Sproul-Jackson syndrome, MIM#618724 Tatton-Brown-Rahman syndrome, MIM#615879 Tags
Red Red List (low evidence)	DUOX2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Thyroid dyshormonogenesis 6, MIM#607200 Tags
Red Red List (low evidence)	EBF3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hypotonia, ataxia and delayed development syndrome MIM#617330 Tags
Red Red List (low evidence)	EBP	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes MEND syndrome, MIM#300960 Tags
Red Red List (low evidence)	EHMT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Kleefstra syndrome, MIM#610253 Tags
Red Red List (low evidence)	EPG5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Vici syndrome, MIM#242840 Tags
Red Red List (low evidence)	ERLIN2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 18A, autosomal dominant, MIM#620512 Spastic paraplegia 18B, autosomal recessive, MIM#611225 Tags
Red Red List (low evidence)	EZH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Weaver syndrome, MIM#277590 Tags
Red Red List (low evidence)	FAM126A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukodystrophy, hypomyelinating MIM#610532 Tags
Red Red List (low evidence)	FAM20C	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Raine syndrome, MIM#259775 Tags
Red Red List (low evidence)	FGD1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Aarskog-Scott syndrome Intellectual developmental disorder, X-linked syndromic 16, MIM#305400 Tags
Red Red List (low evidence)	FGFR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hartsfield syndrome, MIM#615465 Tags
Red Red List (low evidence)	FLNA	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Heterotopia, periventricular, 1, MIM#300049 Tags
Red Red List (low evidence)	FUS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Essential tremor, MIM#614782 Tags
Red Red List (low evidence)	GABBR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 59, MIM#617904 Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903 Tags
Red Red List (low evidence)	GABRB1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy MIM#617153 Tags
Red Red List (low evidence)	GAD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cerebral palsy, spastic quadriplegic, 1, MIM#603513 Tags
Red Red List (low evidence)	GAMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cerebral creatine deficiency syndrome 2, MIM#612736 Tags
Red Red List (low evidence)	GATAD2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes GAND syndrome, MIM#615076 Tags
Red Red List (low evidence)	GBA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Gaucher disease, MIM#231000 Tags
Red Red List (low evidence)	GFAP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Alexander disease, MIM#203450 Tags
Red Red List (low evidence)	GRIN2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570 Tags
Red Red List (low evidence)	HIVEP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 43, MIM#616977 Tags
Red Red List (low evidence)	HPCA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Dystonia 2, torsion, autosomal recessive, MIM#224500 Tags
Red Red List (low evidence)	HSPD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukodystrophy, hypomyelinating, 4, MIM#612233 Tags
Red Red List (low evidence)	IREB2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Tags
Red Red List (low evidence)	KANK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cerebral palsy, spastic quadriplegic, 2, MIM#612900 Tags
Red Red List (low evidence)	KAT6B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes SBBYSS syndrome, MIM#603736 Genitopatellar syndrome, MIM#606170 Tags
Red Red List (low evidence)	KCNH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Temple-Baraitser syndrome, MIM#611816 Zimmermann-Laband syndrome 1, MIM#135500 Tags
Red Red List (low evidence)	KCNK9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Red Literature Phenotypes Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292 Tags
Red Red List (low evidence)	KCNQ3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Seizures, benign neonatal, 2, MIM#121201 Tags
Red Red List (low evidence)	KCNQ5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 46, MIM#617601 Tags
Red Red List (low evidence)	KDM3B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Diets-Jongmans syndrome, MIM#618846 Tags
Red Red List (low evidence)	KDM7A	1 review 1 red	Unknown	Sources Expert list Expert Review Red Literature Phenotypes Cerebral palsy Tags
Red Red List (low evidence)	KIAA1109	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Alkuraya-Kucinskas syndrome, MIM#617822 Tags
Red Red List (low evidence)	KIF14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 20, primary, MIM#617914 Tags
Red Red List (low evidence)	KIF5C	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 2 MIM#615282 Tags
Red Red List (low evidence)	KMT2D	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Kabuki syndrome 1, MIM#147920 Tags
Red Red List (low evidence)	LAMA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Poretti-Boltshauser syndrome, MIM#615960 Tags
Red Red List (low evidence)	LRP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Donnai-Barrow syndrome, MIM#222448 Tags
Red Red List (low evidence)	LZTR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Noonan syndrome 2, MIM#605275 Tags
Red Red List (low evidence)	MACF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Lissencephaly 9 with complex brainstem malformation, MIM#618325 Tags
Red Red List (low evidence)	MAOB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cerebral palsy Tags
Red Red List (low evidence)	MBD5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 1, MIM#156200 Tags
Red Red List (low evidence)	MED13L	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789 Tags
Red Red List (low evidence)	MFN2	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A - #609260 Charcot-Marie-Tooth disease, axonal, type 2A2B - #617087 Hereditary motor and sensory neuropathy VIA - 601152 Tags
Red Red List (low evidence)	MLC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts MIM#604004 Tags
Red Red List (low evidence)	MUT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Methylmalonic aciduria, MIM#251000 Tags
Red Red List (low evidence)	MYH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Congenital myopathy 6 with ophthalmoplegia, MIM#605637 Tags
Red Red List (low evidence)	MYO9A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198 Tags
Red Red List (low evidence)	NEFL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882 Tags
Red Red List (low evidence)	NEXMIF	1 review 1 red	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 Red Phenotypes X-linked Intellectual disability epilepsy autism Tags
Red Red List (low evidence)	NFE2L2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia , MIM#617744 Tags
Red Red List (low evidence)	NFIB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Tags
Red Red List (low evidence)	NOTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Adams-Oliver syndrome 5, MIM#616028 Tags
Red Red List (low evidence)	NR2F1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722 NR2F1-related neurodevelopmental disorder Tags
Red Red List (low evidence)	NSD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Sotos syndrome, MIM#117550 Tags
Red Red List (low evidence)	NSD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Rauch-Steindl syndrome, MIM#619695 Tags
Red Red List (low evidence)	OPHN1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486 Tags
Red Red List (low evidence)	PACS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Schuurs-Hoeijmakers syndrome, MIM#615009 Tags
Red Red List (low evidence)	PCDH19	1 review 1 red	Other	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 9 (OMIM 300088) Tags
Red Red List (low evidence)	PCLO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Red Red List (low evidence)	PDE10A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921 Striatal degeneration, autosomal dominant, MIM#616922 Tags
Red Red List (low evidence)	PGAP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 Tags
Red Red List (low evidence)	PHF6	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM#301900 Tags
Red Red List (low evidence)	PHKA2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Glycogen storage disease, type IXa, 306000 Tags
Red Red List (low evidence)	PIDD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM#619827 Tags
Red Red List (low evidence)	PIK3CA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 Tags
Red Red List (low evidence)	PMM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, type Ia MIM#212065 Tags
Red Red List (low evidence)	POLR2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603 Tags
Red Red List (low evidence)	PPM1D	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Jansen-de Vries syndrome, MIM#617450 Tags
Red Red List (low evidence)	PQBP1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Renpenning syndrome, MIM#309500 Tags
Red Red List (low evidence)	PUM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719 Spinocerebellar ataxia 47, MIM#617931 Tags
Red Red List (low evidence)	RARB	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microphthalmia, syndromic 12, MIM#615524 Tags
Red Red List (low evidence)	ROGDI	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Kohlschutter-Tonz syndrome, MIM#226750 Tags
Red Red List (low evidence)	RTN4IP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures, MIM#616732 Tags
Red Red List (low evidence)	RTTN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833 Tags
Red Red List (low evidence)	SETBP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 29, MIM#616078 Schinzel-Giedion midface retraction syndrome, MIM#269150 Tags
Red Red List (low evidence)	SGCE	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Dystonia-11, myoclonic, MIM#159900 Tags
Red Red List (low evidence)	SIK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 30, MIM#616341 Tags
Red Red List (low evidence)	SLC25A12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 39, MIM#612949 Tags
Red Red List (low evidence)	SLC35A2	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, type IIm, MIM#300896 Tags
Red Red List (low evidence)	SLC6A5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperekplexia 3, MIM#614618 Tags
Red Red List (low evidence)	SMARCA2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Blepharophimosis-impaired intellectual development syndrome, MIM#619293 Nicolaides-Baraitser syndrome, MIM#601358 Tags
Red Red List (low evidence)	SMARCA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Coffin-Siris syndrome 4, MIM#614609 Tags
Red Red List (low evidence)	SMC1A	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 85, with or without midline brain defects, MIM#301044 Tags
Red Red List (low evidence)	SMC3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cornelia de Lange syndrome 3, MIM#610759 Tags
Red Red List (low evidence)	SMG8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Alzahrani-Kuwahara syndrome, MIM#619268 Tags
Red Red List (low evidence)	SOX10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes PCWH syndrome, MIM#609136 Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584 Tags
Red Red List (low evidence)	SOX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Microphthalmia, syndromic 3 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM#206900 Tags
Red Red List (low evidence)	TANC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#618906 Tags
Red Red List (low evidence)	TBCD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum MIM#617193 Tags
Red Red List (low evidence)	TBCK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900 Tags
Red Red List (low evidence)	TBR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder with autism and speech delay, MIM#606053 Tags
Red Red List (low evidence)	TBX6	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spondylocostal dysostosis 5, MIM#122600 Tags
Red Red List (low evidence)	TENM1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TGM6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 35, MIM#613908 Tags
Red Red List (low evidence)	TOR1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Dystonia-1, torsion, MIM#128100 Tags
Red Red List (low evidence)	TRIO	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061 Tags
Red Red List (low evidence)	TRIP12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 49, MIM#617752 Tags
Red Red List (low evidence)	TRPM3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), MIM#620224) Tags
Red Red List (low evidence)	TSC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Tuberous sclerosis-2, MIM#613254 Tags
Red Red List (low evidence)	TSEN54	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia type 2, MIM#277470 Tags
Red Red List (low evidence)	TSHR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hyperthyroidism, nonautoimmune, MIM#609152 Tags
Red Red List (low evidence)	TUBG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 4, MIM#615412 Tags
Red Red List (low evidence)	VPS13B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cohen syndrome, MIM#216550 Tags
Red Red List (low evidence)	VPS53	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 2E, MIM#615851 Tags
Red Red List (low evidence)	WDR62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317 Tags
Red Red List (low evidence)	ZBTB18	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 22, MIM#612337 Tags
Red Red List (low evidence)	ZIC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Holoprosencephaly, MIM#609637 Tags
Red Red List (low evidence)	ZMYM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#619522 Tags
No list No list	TRIT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
No list No list	ZMYND11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Intellectual developmental disorder 30, MIM#616083 Tags

Cerebral Palsy (Version 1.389)

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