Genetic Epilepsy (Version 1.108)

Description

This panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH.

This panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.

The panel includes genes causing syndromic and metabolic conditions where epilepsy is a prominent and/or common feature. If clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial).

This is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).

Panel Activity

54 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Natasha Brown (Victorian Clinical Genetics Services)
Elizabeth Palmer (University of New South Wales)
Belinda Chong (Victorian Clinical Genetics Services)
Emma Goss (Other)
Natalie Tan (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Sebastian Lunke (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Anna Le Fevre (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Arina Puzriakova (Genomics England)
Kavitha Kothur (Sydney Children's Hospitals Network)
Samantha Ayres (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Healius Pathology)
Danielle Ariti (University of Melbourne)
Belinda Chong (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Sarah Leigh (Genomics England)
Rylee Peters (Victorian Clinical Genetics Services)
John Coleman (Murdoch Children's Research Institute)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Anna Ritchie (Victorian Clinical Genetics Services)
Lisa Norbart (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Achchuthan Shanmugasundram (Genomics England)
Krithika Murali (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Hazel Phillimore (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Chris Ciotta (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Naomi Baker (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Shekeeb Mohammad (Children's Hospital at Westmead)
Melanie Marty (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

1074 Entities

1074 reviewed, 824 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1074 Entitiess
Green Green List (high evidence)	AARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339 Tags
Green Green List (high evidence)	ABAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes GABA-transaminase deficiency, MIM#613163 Tags
Green Green List (high evidence)	ABCA2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Tags
Green Green List (high evidence)	ACTG1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Baraitser-Winter syndrome 2, MIM# 614583 Tags
Green Green List (high evidence)	ACTL6B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 76, MIM# 618468 Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470 Tags
Green Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aminoacylase 1 deficiency, MIM# 609924 Tags
Green Green List (high evidence)	ADAM22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 61 (MIM#617933) Tags
Green Green List (high evidence)	ADAR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Dyschromatosis symmetrica hereditaria, MIM# 127400 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)	ADGRG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags 5'UTR
Green Green List (high evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Helsmoortel-van der Aa syndrome MIM#615873 Tags
Green Green List (high evidence)	ADPRHL2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Tags new gene name
Green Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Adenylosuccinase deficiency MIM#103050 Tags
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes KINSSHIP syndrome, MIM# 619297 Intellectual disability seizures hypertrichosis Tags
Green Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aspartylglucosaminuria, MIM# 208400 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)	AGO1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 Tags
Green Green List (high evidence)	AIMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 3, MIM# 260600 Tags
Green Green List (high evidence)	AJAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, AJAP1-related Tags
Green Green List (high evidence)	AKT1	3 reviews 1 green	Other	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Proteus syndrome, somatic, MIM# 176920 Tags somatic
Green Green List (high evidence)	AKT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937 Tags
Green Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Sjogren-Larsson syndrome, MIM# 270200 Tags
Green Green List (high evidence)	ALDH5A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH7A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green Green List (high evidence)	ALG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green Green List (high evidence)	ALG13	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green Green List (high evidence)	ALG14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Tags
Green Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green Green List (high evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green Green List (high evidence)	ALG8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Tags
Green Green List (high evidence)	ALKBH8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 71, MIM# 618504 Tags
Green Green List (high evidence)	ALPL	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags
Green Green List (high evidence)	AMACR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809 Tags
Green Green List (high evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glycine encephalopathy MIM#605899 disorder of glycine metabolism Tags
Green Green List (high evidence)	ANK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related Tags
Green Green List (high evidence)	ANKRD11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes KBG syndrome, MIM#148050 Tags
Green Green List (high evidence)	ANKRD17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Chopra-Amiel-Gordan syndrome, MIM# 619504 Intellectual disability dysmorphic features Tags
Green Green List (high evidence)	ANO4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, ANO4-related Tags
Green Green List (high evidence)	AP1G1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467 Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548 Neurodevelopmental disorder (NDD) Intellectual Disability Epilepsy Tags
Green Green List (high evidence)	AP2M1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder 60 with seizures, MIM# 618587 Tags
Green Green List (high evidence)	AP3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Tags
Green Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green Green List (high evidence)	APC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Tags
Green Green List (high evidence)	ARF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Periventricular nodular heterotopia 8, MIM# 618185 Tags
Green Green List (high evidence)	ARF3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), ARF3-related Global developmental delay Intellectual disability Seizures Morphological abnormality of the central nervous system Tags
Green Green List (high evidence)	ARFGEF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964 Tags
Green Green List (high evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Periventricular heterotopia with microcephaly (MIM#608097) Tags
Green Green List (high evidence)	ARG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Argininemia, 207800 Tags treatable
Green Green List (high evidence)	ARHGEF9	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 8, MIM# 300607 Tags
Green Green List (high evidence)	ARID1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Coffin-Siris syndrome 2 #614607 Tags
Green Green List (high evidence)	ARID1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 1 MIM#135900 Tags
Green Green List (high evidence)	ARSA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Metachromatic leukodystrophy - # 250100 Arylsulfatase A deficiency Tags
Green Green List (high evidence)	ARV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 38, MIM# 617020 Tags
Green Green List (high evidence)	ARX	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 1 MIM#308350 Hydranencephaly with abnormal genitalia MIM#300215 Lissencephaly, X-linked 2 MIM#300215 Mental retardation, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Proud syndrome MIM#300004 Tags
Green Green List (high evidence)	ASAH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Green Green List (high evidence)	ASH1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 52, MIM#617796 Tags
Green Green List (high evidence)	ASNS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Asparagine synthetase deficiency, MIM#615574 microcephaly cerebral atrophy drug-resistant epilepsy axial hypotonia progressive appendicular spasticity abnormal myelination Tags
Green Green List (high evidence)	ASPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Canavan disease MIM#271900 disorder of amino acid metabolism Tags
Green Green List (high evidence)	ASPM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Expert Review Green Literature Phenotypes Primary autosomal recessive Microcephaly 5 - OMIM #608716 Tags
Green Green List (high evidence)	ASTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability epilepsy structural brain malformations Tags
Green Green List (high evidence)	ASXL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Literature NHS GMS Phenotypes Bainbridge-Ropers syndrome, OMIM:615115 Tags
Green Green List (high evidence)	ATAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperekplexia 4, MIM#618011 Tags
Green Green List (high evidence)	ATN1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494 Tags
Green Green List (high evidence)	ATP13A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Kufor-Rakeb syndrome MIM#606693 Tags
Green Green List (high evidence)	ATP1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures hypomagnesaemia Tags
Green Green List (high evidence)	ATP1A2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 98, MIM# 619605 Tags
Green Green List (high evidence)	ATP1A3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes developmental and epileptic encephalopathy early or neonatal onset seizures, polymicrogyria Tags
Green Green List (high evidence)	ATP2B1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 66, MIM# 619910 Tags
Green Green List (high evidence)	ATP2B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green Green List (high evidence)	ATP5O	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags new gene name
Green Green List (high evidence)	ATP6AP2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Tags
Green Green List (high evidence)	ATP6V0A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cutis laxa, type IIA,219200 Tags
Green Green List (high evidence)	ATP6V0C	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV
Green Green List (high evidence)	ATP6V1A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, infantile or early childhood, 618012 Cutis laxa, type IID, 617403 Tags
Green Green List (high evidence)	ATP6V1B2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy Intellectual Disability microcephaly, DOORS syndrome Tags
Green Green List (high evidence)	ATP7A	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Menkes disease MIM#309400 Tags treatable
Green Green List (high evidence)	ATRX	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181 Tags
Green Green List (high evidence)	BAP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kury-Isidor syndrome , MIM#619762 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)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ia, MIM# 248600 Tags treatable
Green Green List (high evidence)	BCKDHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ib, MIM# 248600 Tags treatable
Green Green List (high evidence)	BCKDK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923 Tags
Green Green List (high evidence)	BCS1L	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Green Green List (high evidence)	BOLA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 Tags
Green Green List (high evidence)	BPTF	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome, MIM# 115150 Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BSCL2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, with or without lipodystrophy, MIM#615924 Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062 Tags
Green Green List (high evidence)	BSN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy MONDO:0005027 Tags
Green Green List (high evidence)	BTD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Biotinidase deficiency, MIM 253260 Tags treatable
Green Green List (high evidence)	C12orf57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Temtamy syndrome MIM#218340 Tags
Green Green List (high evidence)	C12orf66	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 Tags new gene name
Green Green List (high evidence)	C2orf69	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	CACNA1A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 42, MIM# 617106 Tags
Green Green List (high evidence)	CACNA1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497 Tags
Green Green List (high evidence)	CACNA1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 Tags
Green Green List (high evidence)	CACNA1D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474 Tags
Green Green List (high evidence)	CACNA1E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285 Tags
Green Green List (high evidence)	CACNA1G	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Tags
Green Green List (high evidence)	CACNA1I	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114 Tags
Green Green List (high evidence)	CACNA2D1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 110, MIM# 620149 Tags
Green Green List (high evidence)	CACNA2D2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Tags
Green Green List (high evidence)	CAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 50, MIM# 616457 Tags
Green Green List (high evidence)	CAMK2A	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 Victorian Clinical Genetics Services Phenotypes ?Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798 Tags
Green Green List (high evidence)	CAMK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mental retardation, autosomal dominant 54, MIM# 617799 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)	CAPRIN1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782 Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Tags
Green Green List (high evidence)	CARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 27, MIM# 616672 Tags
Green Green List (high evidence)	CASK	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Mental retardation, with or without nystagmus MIM#300422 Tags
Green Green List (high evidence)	CC2D2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM#612285 Tags
Green Green List (high evidence)	CCDC88A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes PEHO syndrome-like, 617507 Tags
Green Green List (high evidence)	CCDC88C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hydrocephalus, congenital, 1 MIM#236600 Tags
Green Green List (high evidence)	CCT3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034 Tags
Green Green List (high evidence)	CDK13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MIM#617360 Tags
Green Green List (high evidence)	CDK19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability epileptic encephalopathy Epileptic encephalopathy, early infantile, 87, MIM# 618916 Tags
Green Green List (high evidence)	CDKL5	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Green Green List (high evidence)	CELF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 97, MIM#619561 Tags
Green Green List (high evidence)	CEP85L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Lissencephaly, posterior predominant Tags
Green Green List (high evidence)	CERS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epilepsy, progressive myoclonic, 8 MIM#616230 Tags
Green Green List (high evidence)	CHD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pilarowski-Bjornsson syndrome, MIM#617682 Tags
Green Green List (high evidence)	CHD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, childhood-onset (MIM # 615369) Tags
Green Green List (high evidence)	CHD3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Snijders Blok-Campeau syndrome MIM#618205 Tags
Green Green List (high evidence)	CHD4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Sifrim-Hitz-Weiss syndrome, MIM# 617159 Childhood idiopathic epilepsy and sinus arrhythmia Tags
Green Green List (high evidence)	CHD5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy 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)	CHRNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, type 4 MIM#610353 Tags
Green Green List (high evidence)	CHRNA4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Tags
Green Green List (high evidence)	CHRNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, 3, MIM# 605375 Tags
Green Green List (high evidence)	CIC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 45, MIM# 617600 Tags
Green Green List (high evidence)	CLCN3	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 Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517 Tags
Green Green List (high evidence)	CLCN4	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Raynaud-Claes syndrome, MIM#300114 intellectual disability epilepsy autistic features mood disorders cerebral white matter changes progressive appendicular spasticity 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)	CLN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags
Green Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 Tags
Green Green List (high evidence)	CLN6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Tags
Green Green List (high evidence)	CLN8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Tags
Green Green List (high evidence)	CLPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Tags
Green Green List (high evidence)	CLTC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 56, MIM# 617854 Tags
Green Green List (high evidence)	CNKSR2	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Tags
Green Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomagnesemia 6, renal MIM#613882 Hypomagnesemia, seizures, and mental retardation MIM#616418 Tags
Green Green List (high evidence)	CNOT9	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)	CNPY3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 60 (MIM 617929) Tags
Green Green List (high evidence)	CNTN2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, MONDO:0015653, CNTN2-related Epilepsy, myoclonic, familial adult, 5 MIM#615400 Tags
Green Green List (high evidence)	CNTNAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Tags
Green Green List (high evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green Green List (high evidence)	COL18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Knobloch syndrome, type 1, MIM# 267750 Tags
Green Green List (high evidence)	COL3A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343 Tags
Green Green List (high evidence)	COL4A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773 Brain small vessel disease with or without ocular anomalies MIM#175780 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 Tags
Green Green List (high evidence)	COL4A2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral Palsy MONDO#0006497, COL4A2-related Brain small vessel disease 2 MIM# 614483 Tags
Green Green List (high evidence)	COL4A3BP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder 34 (MIM#616351) Tags
Green Green List (high evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829 Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Tags treatable
Green Green List (high evidence)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags
Green Green List (high evidence)	COQ9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Green Green List (high evidence)	COX11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green Green List (high evidence)	CPLX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 63, MIM# 617976 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)	CPT1A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes CPT deficiency, hepatic, type IA, MIM# 255120 Tags
Green Green List (high evidence)	CPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags
Green Green List (high evidence)	CRADD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green Green List (high evidence)	CRELD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Tags
Green Green List (high evidence)	CSF1R	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 Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476) 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)	CSNK2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Okur-Chung neurodevelopmental syndrome, MIM# 617062 Tags
Green Green List (high evidence)	CSNK2B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Tags
Green Green List (high evidence)	CSTB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800 Tags 5'UTR STR
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 9, MIM#618174 Tags
Green Green List (high evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 MONDO:0012414 Tags
Green Green List (high evidence)	CTSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362 Tags
Green Green List (high evidence)	CTU2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Tags
Green Green List (high evidence)	CUL4B	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 15 (Cabezas type), 300354 Tags
Green Green List (high evidence)	CUX2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 67, MIM#618141 Tags
Green Green List (high evidence)	CWF19L1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 17, MIM# 616127 Tags
Green Green List (high evidence)	CXorf56	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Mental retardation, X-linked 107, MIM# 301013 Tags
Green Green List (high evidence)	CYFIP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 65, MIM#618008 Tags
Green Green List (high evidence)	CYP27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	D2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green Green List (high evidence)	DBT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type II (MIM#248600) Tags treatable
Green Green List (high evidence)	DCX	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly, X-linked, MIM# 300067 Subcortical laminal heterotopia, X-linked 300067 Tags
Green Green List (high evidence)	DDC	1 review 1 green	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)	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green Green List (high evidence)	DEAF1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dyskinesia, seizures, and intellectual developmental disorder 617171 autosomal dominant mental retardation 24, MIM# 615828 Tags
Green Green List (high evidence)	DEGS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy hypomyelinating 18, MIM#618404 Tags
Green Green List (high evidence)	DENND5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 49, MIM# 617281 Tags
Green Green List (high evidence)	DEPDC5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 1 MIM#604364 Developmental and epileptic encephalopathy 111, MIM# 620504 Tags
Green Green List (high evidence)	DHCR24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Desmosterolosis, MIM# 602398 Tags
Green Green List (high evidence)	DHDDS	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836 Congenital disorder of glycosylation, MIM#613861 Tags
Green Green List (high evidence)	DHPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Tags
Green Green List (high evidence)	DHRSX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 1DD, MIM# 301133 Tags
Green Green List (high evidence)	DHX16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 Tags
Green Green List (high evidence)	DHX30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 Tags
Green Green List (high evidence)	DIAPH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 Tags
Green Green List (high evidence)	DIP2C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DIP2C-related Tags
Green Green List (high evidence)	DLG4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 62 MIM#618793 Tags
Green Green List (high evidence)	DLL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism seizures variable brain abnormalities scoliosis Tags
Green Green List (high evidence)	DMXL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 81, MIM# 618663 Tags
Green Green List (high evidence)	DNAJC5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes adult neuronal ceroid lipofuscinosis (MONDO:0019260) Tags
Green Green List (high evidence)	DNM1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346 Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 Tags
Green Green List (high evidence)	DNM1L	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR) Tags
Green Green List (high evidence)	DOCK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 23 MIM#615859 MONDO:0014371 Tags
Green Green List (high evidence)	DOHH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, DOHH-related (MONDO#0700092) Tags
Green Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation type Im, 610768 Tags
Green Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Tags
Green Green List (high evidence)	DPM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ie, 608799 Tags
Green Green List (high evidence)	DPYD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Dihydropyrimidine dehydrogenase deficiency, MIM# 274270 Tags SV/CNV
Green Green List (high evidence)	DYNC1H1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563 Tags
Green Green List (high evidence)	DYRK1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship 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)	EARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome MONDO:0009723 Combined oxidative phosphorylation deficiency 12 MIM#614924 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Tags
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green Green List (high evidence)	ECM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Urbach-Wiethe disease, MIM# 247100 Tags
Green Green List (high evidence)	EEF1A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625 Tags
Green Green List (high evidence)	EEF1B2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 non-syndromic ID and seizures Tags
Green Green List (high evidence)	EEFSEC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related Tags
Green Green List (high evidence)	EFTUD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536 Tags
Green Green List (high evidence)	EHMT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Kleefstra syndrome 1, MIM# 610253 MONDO:0027407 Tags SV/CNV
Green Green List (high evidence)	EIF2AK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Tags
Green Green List (high evidence)	EIF2B1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Tags
Green Green List (high evidence)	EIF2B2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Ovarioleukodystrophy, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green Green List (high evidence)	EIF2B4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green Green List (high evidence)	EIF2B5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green Green List (high evidence)	EIF2S3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes MEHMO syndrome MIM# 300148 Tags
Green Green List (high evidence)	EIF3F	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal recessive 67, MIM# 618295 Tags
Green Green List (high evidence)	EIF4A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Tags
Green Green List (high evidence)	ELOVL4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457) Tags
Green Green List (high evidence)	EMC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092, EMC1-related Tags
Green Green List (high evidence)	EMC10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264 Tags founder
Green Green List (high evidence)	EML1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Band heterotopia (MIM# 600348) Tags
Green Green List (high evidence)	EP400	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930 Tags
Green Green List (high evidence)	EPB41L3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063 Tags
Green Green List (high evidence)	EPG5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	EPM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Lafora disease MONDO:0009697 Tags
Green Green List (high evidence)	ESAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Tags
Green Green List (high evidence)	ETHE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green Green List (high evidence)	EXOC7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes brain atrophy seizures developmental delay microcephaly Tags
Green Green List (high evidence)	EXOSC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green Green List (high evidence)	EXT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Tags
Green Green List (high evidence)	FA2H	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia 35, autosomal recessive, MIM#611026 Tags
Green Green List (high evidence)	FAME2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, familial adult myoclonic, 2 MIM#607876 Tags
Green Green List (high evidence)	FARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes combined oxidative phosphorylation defect type 14 MONDO:0013986 Tags
Green Green List (high evidence)	FASTKD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Green Green List (high evidence)	FBXL4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green Green List (high evidence)	FBXO11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 Tags
Green Green List (high evidence)	FBXO28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 100, MIM# 619777 Tags
Green Green List (high evidence)	FDFT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Squalene synthase deficiency, MIM# 618156 Tags
Green Green List (high evidence)	FGF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 47, MIM# 617166 Tags
Green Green List (high evidence)	FGF13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 90, MIM# 301058 Intellectual disability epilepsy Tags
Green Green List (high evidence)	FGFR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hartsfield syndrome (MIM#615465) Tags
Green Green List (high evidence)	FGFR3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypochondroplasia, MIM#146000 Tags
Green Green List (high evidence)	FH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Fumarase deficiency, MIM#606812 Tags
Green Green List (high evidence)	FKTN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green Green List (high evidence)	FLNA	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Heterotopia, periventricular, 1, MIM# 300049 Tags
Green Green List (high evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Green Green List (high evidence)	FOXG1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Rett syndrome, congenital variant, MIM# 613454 Tags
Green Green List (high evidence)	FOXP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670 Tags
Green Green List (high evidence)	FOXRED1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 Tags
Green Green List (high evidence)	FRMD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Tags
Green Green List (high evidence)	FRRS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy, 37 MONDO:0014859 Tags
Green Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Fucosidosis, MIM# 230000 MONDO:0009254 Tags
Green Green List (high evidence)	FUK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green Green List (high evidence)	FUT8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green Green List (high evidence)	FZR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 109, MIM# 620145 Tags
Green Green List (high evidence)	GABBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 59, MIM# 617904 Tags
Green Green List (high evidence)	GABRA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome Tags
Green Green List (high evidence)	GABRA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 78, MIM# 618557 Tags
Green Green List (high evidence)	GABRA3	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 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 Tags
Green Green List (high evidence)	GABRA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, GABRA4-related Tags
Green Green List (high evidence)	GABRA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 79 OMIM #618559 Tags
Green Green List (high evidence)	GABRB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 45, MIM# 617153 Tags
Green Green List (high evidence)	GABRB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 Tags
Green Green List (high evidence)	GABRB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Green Green List (high evidence)	GABRD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy Susceptibility to epilepsy, MIM#613060 Tags
Green Green List (high evidence)	GABRG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3 607681 Tags
Green Green List (high evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green Green List (high evidence)	GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation Tags
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 2 MIM#612736 Disorders of creatinine metabolism Tags treatable
Green Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal, MIM# 608013 Gaucher disease, type I, MIM# 230800 Gaucher disease, type II, MIM# 230900 Gaucher disease, type III, MIM# 231000 Gaucher disease, type IIIC, MIM# 231005 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric aciduria, type I MIM#231670 Tags
Green Green List (high evidence)	GCH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910 Tags
Green Green List (high evidence)	GCSH	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green Green List (high evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Alexander disease, MIM# 203450 Tags
Green Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 1 MIM#609060 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes GM1-gangliosidosis, type I MIM#230500 GM1-gangliosidosis, type II MIM# 230600 Tags
Green Green List (high evidence)	GLDC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glycine encephalopathy (MIM#605899) Tags
Green Green List (high evidence)	GLI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Pallister-Hall syndrome, MIM# 146510 Tags
Green Green List (high evidence)	GLRA2	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 Expert Review Green Phenotypes Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Tags
Green Green List (high evidence)	GLS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 71, MIM# 618328 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 Tags
Green Green List (high evidence)	GLUD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Tags
Green Green List (high evidence)	GLUL	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green Green List (high evidence)	GLYCTK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes D-glyceric aciduria, MIM# 220120 Tags
Green Green List (high evidence)	GM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, AB variant MIM#272750 Tags
Green Green List (high evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Tags
Green Green List (high evidence)	GNAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Tags
Green Green List (high evidence)	GNAO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 17 Neurodevelopmental disorder with involuntary movements Tags
Green Green List (high evidence)	GNAQ	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Tags somatic
Green Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Tags
Green Green List (high evidence)	GNB5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 Early infantile epileptic encephalopathy (EIEE) Tags
Green Green List (high evidence)	GOSR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 6 , MIM#614018 Tags
Green Green List (high evidence)	GOT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 82, MIM# 618721 Tags
Green Green List (high evidence)	GPAA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green Green List (high evidence)	GPHN	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency C, MIM# 615501 Epilepsy Autism Intellectual disability Tags SV/CNV
Green Green List (high evidence)	GPRC5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Tags
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)	GRIA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism Rett-like features epileptic encephalopathy Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917 Tags
Green Green List (high evidence)	GRIA3	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 Expert Review Green Phenotypes Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Tags
Green Green List (high evidence)	GRIA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Tags
Green Green List (high evidence)	GRIK2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal recessive, 6 MIM# 611092 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 Tags
Green Green List (high evidence)	GRIN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 101, MIM# 619814 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Tags
Green Green List (high evidence)	GRIN2A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Tags
Green Green List (high evidence)	GRIN2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139 Tags
Green Green List (high evidence)	GRIN2D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 46, MIM# 617162 intellectual disability 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)	GRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 11 614706 Tags
Green Green List (high evidence)	GSS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glutathione synthetase deficiency, MIM# 266130 Tags
Green Green List (high evidence)	GTF3C3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Tags
Green Green List (high evidence)	GTPBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Jaberi-Elahi syndrome, MIM#617988 Tags
Green Green List (high evidence)	GTPBP3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green Green List (high evidence)	H3F3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability regression seizures Tags
Green Green List (high evidence)	H3F3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability regression seizures Tags
Green Green List (high evidence)	HACE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Tags
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags
Green Green List (high evidence)	HCFC1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Tags
Green Green List (high evidence)	HCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 24, MIM# 615871 Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482 Tags
Green Green List (high evidence)	HCN2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Febrile seizures, familial, 2, MIM# 602477 Genetic epilepsy with febrile seizures plus Other seizure disorders Tags
Green Green List (high evidence)	HDAC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, HDAC3-related Tags
Green Green List (high evidence)	HECTD1	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)	HECW2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268 intellectual disability epilepsy regression microcephaly Tags
Green Green List (high evidence)	HEPACAM	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926 Tags
Green Green List (high evidence)	HERC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 38 (MIM 615516) Tags
Green Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 Tags
Green Green List (high evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006 Tags
Green Green List (high evidence)	HID1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic infantile encephalopathy Hypopituitarism Tags
Green Green List (high evidence)	HIVEP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 43, MIM# 616977 Tags
Green Green List (high evidence)	HLCS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Holocarboxylase synthetase deficiency, MIM# 253270 Tags treatable
Green Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency, MIM# 246450 Tags treatable
Green Green List (high evidence)	HNRNPH2	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green Green List (high evidence)	HNRNPR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 Tags
Green Green List (high evidence)	HNRNPU	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 54 MIM# 617391 Tags
Green Green List (high evidence)	HPDL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Costello syndrome, MIM# 218040 Tags
Green Green List (high evidence)	HSD17B4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green Green List (high evidence)	HSPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 4, MIM# 612233 Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green Green List (high evidence)	IDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria 2, MIM# 613657 Tags
Green Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship 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)	IFIH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846 Tags
Green Green List (high evidence)	IKBKG	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Incontinentia pigmenti, MIM# 308300 Tags
Green Green List (high evidence)	INPP4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes INPP4A-related neurodevelopmental disorder Tags
Green Green List (high evidence)	IQSEC2	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 Tags
Green Green List (high evidence)	IRF2BPL	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 Tags
Green Green List (high evidence)	ISCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green Green List (high evidence)	ISPD	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 Tags
Green Green List (high evidence)	ITPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 35, MIM# 616647 Tags
Green Green List (high evidence)	KANSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Koolen-De Vries syndrome MIM#610443 Tags
Green Green List (high evidence)	KARS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147 Tags
Green Green List (high evidence)	KAT5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Green Green List (high evidence)	KAT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Arboleda-Tham syndrome MIM#616268 Tags
Green Green List (high evidence)	KAT8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures autism dysmorphic features Li-Ghorbani-Weisz syndrome, MIM#618974 Tags
Green Green List (high evidence)	KATNB1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lissencephaly 6, with microcephaly MIM#616212 Tags
Green Green List (high evidence)	KCNA1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy seizures epileptic encephalopathies episodic ataxia type 1 and epilepsy Tags
Green Green List (high evidence)	KCNA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Early infantile encephalopathy 32, MIM#616366 Tags
Green Green List (high evidence)	KCNA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNA3-related Tags
Green Green List (high evidence)	KCNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 26, MIM# 616056 Tags
Green Green List (high evidence)	KCNC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 7 (MIM#616187) Intellectual disability Movement disorders Tags
Green Green List (high evidence)	KCNC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 103, MIM# 619913 Tags
Green Green List (high evidence)	KCND1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KCND1-related Tags
Green Green List (high evidence)	KCND2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 global developmental delay, HP:0001263 seizure, HP:0001250 Tags
Green Green List (high evidence)	KCND3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Spinocerebellar ataxia 19, MIM#607346 Tags
Green Green List (high evidence)	KCNH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Tags
Green Green List (high evidence)	KCNH5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 112, MIM# 620537 Tags
Green Green List (high evidence)	KCNJ10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNJ11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Tags
Green Green List (high evidence)	KCNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 Tags
Green Green List (high evidence)	KCNMA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Cerebellar atrophy, developmental delay, and seizures, MIM# 617643 Liang-Wang syndrome, MIM# 618729 Tags
Green Green List (high evidence)	KCNN2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green Green List (high evidence)	KCNQ2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 7, 613720 Seizures, benign neonatal, 1, 121200 Tags
Green Green List (high evidence)	KCNQ3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, benign neonatal, 2, MIM# 121201 Tags
Green Green List (high evidence)	KCNQ5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 46, MIM# 617601 Tags
Green Green List (high evidence)	KCNT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, 5, MIM# 615005 Epileptic encephalopathy, early infantile, 14, MIM# 614959 Tags
Green Green List (high evidence)	KCNT2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 57, MIM#617771 Developmental and epileptic encephalopathy Tags
Green Green List (high evidence)	KCTD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy Intellectual disability Posterior fossa abnormalities Tags
Green Green List (high evidence)	KCTD7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726), AR Tags
Green Green List (high evidence)	KDM4B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 65, MIM# 619320 Global developmental delay, intellectual disability and neuroanatomical defects Tags
Green Green List (high evidence)	KDM5C	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, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KIAA1109	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes lkuraya-Kucinskas syndrome, MIM# 617822 Tags
Green Green List (high evidence)	KIF1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes NESCAV syndrome, MIM# 614255 Tags
Green Green List (high evidence)	KIF2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Tags
Green Green List (high evidence)	KIF5A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myoclonus, intractable, neonatal MIM#617235 Tags
Green Green List (high evidence)	KIF5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Tags
Green Green List (high evidence)	KLHL20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), KLHL20-related Tags
Green Green List (high evidence)	KMT2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Wiedemann-Steiner syndrome MIM#605130 Tags
Green Green List (high evidence)	KMT2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kleefstra syndrome 2, MIM# 617768 Tags
Green Green List (high evidence)	KMT2D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kabuki syndrome 1 MIM#147920 Tags
Green Green List (high evidence)	KMT2E	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes O'Donnell-Luria-Rodan syndrome, MIM# 618512 Intellectual disability Autism Seizures Tags
Green Green List (high evidence)	KPTN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 4, MIM#1615637 Tags
Green Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Oculoectodermal syndrome, somatic MIM#600268 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200 Tags somatic
Green Green List (high evidence)	KRIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860 Cavernous malformations of CNS and retina MIM#116860 Cerebral cavernous malformations-1 MIM#116860 Tags
Green Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes L-2-hydroxyglutaric aciduria MIM#236792 Tags
Green Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23 , MIM#618138 Tags
Green Green List (high evidence)	LAMC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical malformations, occipital, MIM#614115 Tags
Green Green List (high evidence)	LARS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Seizures Intellectual disability Encephalopathy Tags new gene name
Green Green List (high evidence)	LETM1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LGI1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial temporal lobe, 1, MIM# 6000512 Tags
Green Green List (high evidence)	LIAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 Tags
Green Green List (high evidence)	LIG3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green Green List (high evidence)	LIPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Tags
Green Green List (high evidence)	LMBRD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay with variable neurologic and brain abnormalities, MIM# 619694 Global developmental delay Intellectual disability Microcephaly Seizures Abnormality of nervous system morphology Abnormality of the eye Tags
Green Green List (high evidence)	LNPK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Tags
Green Green List (high evidence)	LSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alopecia-intellectual disability syndrome 4, MIM#618840 Tags
Green Green List (high evidence)	MACF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lissencephaly 9 with complex brainstem malformation, MIM# 618325 Tags
Green Green List (high evidence)	MADD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities) Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005 Tags
Green Green List (high evidence)	MAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Ayme-Gripp syndrome (MIM#601088) Tags
Green Green List (high evidence)	MAP1B	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures PVNH dysmorphic features Periventricular nodular heterotopia 9, MIM# 618918 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green Green List (high evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, MIM# 615280 Tags
Green Green List (high evidence)	MARK2	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)	MAST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations OMIM #618273 Tags
Green Green List (high evidence)	MAST3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 108, MIM#620115 Tags
Green Green List (high evidence)	MAST4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, MAST4-related Tags
Green Green List (high evidence)	MBD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 1, MIM# 156200 MONDO:0007974 Tags SV/CNV
Green Green List (high evidence)	MBOAT7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes intellectual disability MIM#617188 Tags
Green Green List (high evidence)	MDH2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 51 MIM#617339 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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Rett syndrome, MIM# 312750 Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055 Encephalopathy, neonatal severe, MIM# 300673 Tags
Green Green List (high evidence)	MED11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Tags
Green Green List (high evidence)	MED12	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Ohdo syndrome, X-linked MIM#300895 Lujan-Fryns syndrome MIM#309520 Opitz-Kaveggia syndrome MIM#305450 Tags
Green Green List (high evidence)	MED13L	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MED27	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MIM#619286 Tags
Green Green List (high evidence)	MEF2C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags 5'UTR SV/CNV
Green Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green Green List (high evidence)	MFSD8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 7 610951 Tags
Green Green List (high evidence)	MINPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 16, MIM# 619527 Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Tags
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags treatable
Green Green List (high evidence)	MMADHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Tags treatable
Green Green List (high evidence)	MOCS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green Green List (high evidence)	MOCS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency B MIM#252160 Tags
Green Green List (high evidence)	MOGS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MTHFR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Tags
Green Green List (high evidence)	MTHFS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green Green List (high evidence)	MTOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-Kingsmore syndrome, MIM# 616638 Focal cortical dysplasia, type II, somatic, MIM# 607341 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Tags
Green Green List (high evidence)	MTR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 Tags
Green Green List (high evidence)	MYCBP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities Tags
Green Green List (high evidence)	MYT1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 39, MIM# 616521 Tags
Green Green List (high evidence)	NAA10	5 reviews 3 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes NAA10-related syndrome MONDO:0100124 Tags
Green Green List (high evidence)	NACC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 Tags
Green Green List (high evidence)	NAGLU	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Literature Royal Melbourne Hospital Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920 Seizures Tags
Green Green List (high evidence)	NALCN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 (NEDMILG), MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092 Abnormal muscle tone Microcephaly Global developmental delay Intellectual disability Seizures Ataxia Abnormality of the face Demyelinating peripheral neuropathy Tags new gene name
Green Green List (high evidence)	NARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 24 - MIM#616239 Tags
Green Green List (high evidence)	NBEA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures Tags
Green Green List (high evidence)	NCDN	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373 Tags
Green Green List (high evidence)	NDE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Microhydranencephaly 605013 Lissencephaly 4 (with microcephaly) 614019 Tags
Green Green List (high evidence)	NDST1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal recessive 46 - MIM#616116 Tags
Green Green List (high evidence)	NDUFA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Green Green List (high evidence)	NDUFAF2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Tags
Green Green List (high evidence)	NDUFAF5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010 Tags
Green Green List (high evidence)	NDUFS8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Tags
Green Green List (high evidence)	NDUFV1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NEDD4L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Periventricular nodular heterotopia 7, MIM#617201 Tags
Green Green List (high evidence)	NEU1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Sialidosis, type I/II MIM#256550 Tags
Green Green List (high evidence)	NEUROD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 72, MIM# 618374 Tags
Green Green List (high evidence)	NEXMIF	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 98, MIM# 300912 Tags
Green Green List (high evidence)	NGLY1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of deglycosylation, MIM# 615273 Tags
Green Green List (high evidence)	NHLRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green Green List (high evidence)	NOTCH3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 Tags
Green Green List (high evidence)	NOVA2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859 Tags
Green Green List (high evidence)	NPRL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 2 617116 focal seizures frontal lobe epilepsy nocturnal frontal lobe epilepsy temporal lobe epilepsy focal cortical dysplasia Tags
Green Green List (high evidence)	NPRL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 3- MIM#617118 Tags
Green Green List (high evidence)	NR2F1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Green Green List (high evidence)	NR4A2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green Green List (high evidence)	NRROS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodegeneration intracranial calcification epilepsy Tags
Green Green List (high evidence)	NRXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins-like syndrome 2 - MIM#614325 Tags
Green Green List (high evidence)	NSD1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1 (MIM#117550), AD Tags
Green Green List (high evidence)	NSDHL	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes CK syndrome (MIM#300831) Tags
Green Green List (high evidence)	NSRP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green Green List (high evidence)	NTRK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 58, MIM# 617830 Tags
Green Green List (high evidence)	NUP214	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426 epileptic encephalopathy developmental regression microcephaly Tags
Green Green List (high evidence)	NUS1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 55, with seizures, MIM# 617831 Tags
Green Green List (high evidence)	OCLN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 1, MIM#251290 Tags
Green Green List (high evidence)	OGDHL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia Tags
Green Green List (high evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Tags
Green Green List (high evidence)	OSGEP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM#617729 Tags
Green Green List (high evidence)	OTUD6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Green Green List (high evidence)	OXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000 Tags
Green Green List (high evidence)	P4HTM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Green Green List (high evidence)	PABPC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder, PABPC1-related (MONDO#0700092) Tags
Green Green List (high evidence)	PACS1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Schuurs-Hoeijmakers syndrome (MIM# 615009) Tags
Green Green List (high evidence)	PACS2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 66 - MIM#618067 Tags
Green Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship 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)	PAH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Phenylketonuria, MIM#261600 Tags treatable
Green Green List (high evidence)	PAK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Tags
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)	PARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 75, MIM# 618437 Tags
Green Green List (high evidence)	PCCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Propionicacidemia - MIM#606054 Tags treatable
Green Green List (high evidence)	PCCB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Propionicacidemia - MIM#606054 Tags review
Green Green List (high evidence)	PCDH12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Tags
Green Green List (high evidence)	PCDH19	2 reviews 2 green	Other	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 9 300088 PCDH19-related epilepsy (early seizure onset, generalised or focused seizures) cognitive impairment Tags
Green Green List (high evidence)	PCDHGC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Tags
Green Green List (high evidence)	PCYT2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes intellectual disability regression spastic para-/tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green Green List (high evidence)	PDCD10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cerebral cavernous malformations-3 MIM#603285 Tags
Green Green List (high evidence)	PDE2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150 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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170 Tags
Green Green List (high evidence)	PDHX	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Lactic acidaemia due to PDX1 deficiency MIM#245349 Tags
Green Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green Green List (high evidence)	PEX1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100 Tags
Green Green List (high evidence)	PEX10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870 Tags
Green Green List (high evidence)	PEX12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859 Peroxisome biogenesis disorder 3B - MIM#266510 Tags
Green Green List (high evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) Tags
Green Green List (high evidence)	PEX19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886 Tags
Green Green List (high evidence)	PEX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866 Tags
Green Green List (high evidence)	PEX26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872 Tags
Green Green List (high evidence)	PEX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Peroxisome biogenesis disorder 10B , MIM# 617370 Tags
Green Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Peroxisome biogenesis disorder 2B, MIM# 202370 Tags
Green Green List (high evidence)	PEX6	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Tags
Green Green List (high evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green Green List (high evidence)	PGM2L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092, PGM2L1-related Tags
Green Green List (high evidence)	PHACTR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 70, MIM# 618298 Tags
Green Green List (high evidence)	PHF6	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome MIM#301900 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neu-Laxova syndrome 1, MIM# 256520 Phosphoglycerate dehydrogenase deficiency, MIM# 601815 Tags
Green Green List (high evidence)	PI4K2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732 Tags
Green Green List (high evidence)	PIDD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Tags
Green Green List (high evidence)	PIGA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072 Tags
Green Green List (high evidence)	PIGB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 80, MIM# 618580 Tags
Green Green List (high evidence)	PIGC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 Tags
Green Green List (high evidence)	PIGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 Tags
Green Green List (high evidence)	PIGH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green Green List (high evidence)	PIGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Tags
Green Green List (high evidence)	PIGO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green Green List (high evidence)	PIGP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 55, MIM# 617599 Tags
Green Green List (high evidence)	PIGQ	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 77, MIM# 618548 Tags
Green Green List (high evidence)	PIGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PIGU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 21 OMIM #618590 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green Green List (high evidence)	PIGW	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Tags
Green Green List (high evidence)	PIK3CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 Tags somatic
Green Green List (high evidence)	PIK3R2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Tags
Green Green List (high evidence)	PIP5K1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Tags
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217 Tags
Green Green List (high evidence)	PLAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Tags
Green Green List (high evidence)	PLCB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 12 (MIM#613722) Tags SV/CNV
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)	PLP1	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 Pelizaeus-Merzbacher Disease, MIM#312080 Tags
Green Green List (high evidence)	PLPBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 Tags
Green Green List (high evidence)	PLXNA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Tags
Green Green List (high evidence)	PMM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ia (MIM#212065) Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related Tags
Green Green List (high evidence)	PMPCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
Green Green List (high evidence)	PNKP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, seizures, and developmental delay, MIM# 613402 Tags
Green Green List (high evidence)	PNPLA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green Green List (high evidence)	PNPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Tags
Green Green List (high evidence)	PNPT1	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 13, MIM# 614932 Tags
Green Green List (high evidence)	POGZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes White-Sutton syndrome MIM#616364 Tags
Green Green List (high evidence)	POLG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Tags
Green Green List (high evidence)	POLR3B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes ataxia, spasticity, and demyelinating neuropathy Tags
Green Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830 Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship 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)	PPFIA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related 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)	PPP1R3F	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Tags
Green Green List (high evidence)	PPP2CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354 Tags
Green Green List (high evidence)	PPP2R1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services 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)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Houge-Janssens syndrome 1 MIM#616355 Tags
Green Green List (high evidence)	PPP3CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 91, MIM#617711 Tags
Green Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744 Tags
Green Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157 Tags
Green Green List (high evidence)	PRODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperprolinemia, type I, MIM# 239500 Proline oxidase deficiency Tags
Green Green List (high evidence)	PRPF8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PRPF8-related Retinitis pigmentosa 13 - MIM#600059 Tags
Green Green List (high evidence)	PRRT2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 Episodic kinesigenic dyskinesia 1 128200 Seizures, benign familial infantile, 2 605751 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)	PSAP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined SAP deficiency, MIM# 611721 Encephalopathy due to prosaposin deficiency, MONDO:0012719 Krabbe disease, atypical, MIM# 611722 MONDO:0012720 Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 MONDO:0009590 Gaucher disease, atypical, MIM# 610539 MONDO:0012517 Tags
Green Green List (high evidence)	PTEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cowden syndrome 1, MIM#158350 Tags
Green Green List (high evidence)	PTPN23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship 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)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags treatable
Green Green List (high evidence)	PUM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 Tags
Green Green List (high evidence)	PURA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Green Green List (high evidence)	PUS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051 Tags
Green Green List (high evidence)	QARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Tags treatable
Green Green List (high evidence)	RAB11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 3, MIM# 614222 Tags
Green Green List (high evidence)	RAB39B	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 72 MIM#300271 Waisman syndrome MIM#311510 Tags
Green Green List (high evidence)	RAB5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags
Green Green List (high evidence)	RAC3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Tags
Green Green List (high evidence)	RAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Smith-Magenis syndrome MIM#182290 Tags
Green Green List (high evidence)	RALA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311 Intellectual disability Seizures Tags
Green Green List (high evidence)	RALGAPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability hypotonia infantile spasms. Tags
Green Green List (high evidence)	RANBP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green Green List (high evidence)	RARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 9 (# 616140) Tags new gene name
Green Green List (high evidence)	RARS2	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 6 MIM#611523 Tags
Green Green List (high evidence)	RBFOX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Tags
Green Green List (high evidence)	RELN	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes {Epilepsy, familial temporal lobe, 7}, MIM# 616436 MONDO:0014639 Tags
Green Green List (high evidence)	RERE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green Green List (high evidence)	RHOBTB2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 64, MIM#618004 Tags
Green Green List (high evidence)	RMND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 4 MIM#610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 3 (MIM# 610329) Tags
Green Green List (high evidence)	RNASET2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, cystic, without megalencephaly MIM#612951 Tags
Green Green List (high evidence)	RNF113A	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 Expert Review Green Phenotypes Trichothiodystrophy 5, nonphotosensitive, MIM#300953 Tags
Green Green List (high evidence)	RNF13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 73, MIM# 618379 Tags
Green Green List (high evidence)	RNH1	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RNH1-related {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461 Tags
Green Green List (high evidence)	RNU2-2P	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related Tags
Green Green List (high evidence)	RNU4ATAC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags
Green Green List (high evidence)	ROGDI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Kohlschutter-Tonz syndrome, MIM# 226750 Tags
Green Green List (high evidence)	RORA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 Tags
Green Green List (high evidence)	RORB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD Genetic generalized epilepsy (GGE) Photosensitive generalized and occipital epilepsy Tags
Green Green List (high evidence)	RPH3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Tags
Green Green List (high evidence)	RPS6KA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Coffin-Lowry syndrome MIM# 303600 Intellectual disability short stature delayed bone age hearing deficit hypotonia tapering fingers abnormal facies (hypertelorism, anteverted nares, prominent frontal region) Tags
Green Green List (high evidence)	RRM2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Tags
Green Green List (high evidence)	RTN4IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Tags
Green Green List (high evidence)	RTTN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833 Tags
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SART3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092), SART3-related 46,XY disorder of sex development (MONDO:0020040), SART3-related Tags
Green Green List (high evidence)	SATB1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Kohlschutter-Tonz syndrome-like, MIM# 619229 Neurodevelopmental disorder Intellectual disability Epilepsy Microcephaly Regression 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 MONDO:0100147 Tags
Green Green List (high evidence)	SCAF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Fliedner-Zweier syndrome, MIM#620511 Tags
Green Green List (high evidence)	SCAMP5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures autism Tags
Green Green List (high evidence)	SCARB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 Tags
Green Green List (high evidence)	SCN1A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2 604403 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Febrile seizures, familial, 3A 604403 Tags
Green Green List (high evidence)	SCN1B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy (MONDO:0100062) generalized epilepsy with febrile seizures plus (MONDO:0018214) Tags
Green Green List (high evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, benign familial infantile, 3, MIM# 607745 Developmental and epileptic encephalopathy 11, MIM# 613721 Tags
Green Green List (high evidence)	SCN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 4, MIM# 617935 Epileptic encephalopathy, early infantile, 62, MIM# 617938 Intellectual disability Malformations of cortical development Tags
Green Green List (high evidence)	SCN8A	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 13, MIM# 614558 dominant and recessive Tags
Green Green List (high evidence)	SCO2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Tags
Green Green List (high evidence)	SECISBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thyroid hormone metabolism, abnormal, 1, MIM# 609698 Tags
Green Green List (high evidence)	SEMA6B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Progressive myoclonic epilepsy Tags
Green Green List (high evidence)	SEPSECS	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2D, MIM# 613811 Tags
Green Green List (high evidence)	SERAC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MIM#614739 Tags
Green Green List (high evidence)	SERPINI1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Tags
Green Green List (high evidence)	SETBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150 Intellectual disability, autosomal dominant 29, MIM# 616078 Tags
Green Green List (high evidence)	SETD1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Tags
Green Green List (high evidence)	SETD1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy with myoclonic absences intellectual disability Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000 Tags
Green Green List (high evidence)	SETD5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 23 (MIM # 615761) Tags
Green Green List (high evidence)	SGCE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert list Expert Review Green Phenotypes Dystonia-11, myoclonic, MIM# 159900 Tags
Green Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 Tags
Green Green List (high evidence)	SHANK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Phelan-McDermid syndrome MIM#606232 Tags
Green Green List (high evidence)	SHH	2 reviews 2 green	Other	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypothalamic hamartoma Tags somatic
Green Green List (high evidence)	SHROOM4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579 Tags
Green Green List (high evidence)	SIK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 30, MIM#616341 developmental and epileptic encephalopathy, MONDO#0100062 Tags
Green Green List (high evidence)	SLC12A5	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 34, MIM# 616645 {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 Tags
Green Green List (high evidence)	SLC13A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green Green List (high evidence)	SLC13A5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392 Tags
Green Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483 Tags
Green Green List (high evidence)	SLC1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 41, MIM# 617105 Tags
Green Green List (high evidence)	SLC1A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Episodic ataxia, type 6, MIM# 612656 Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 MONDO:0014725 Tags founder
Green Green List (high evidence)	SLC25A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Tags
Green Green List (high evidence)	SLC25A12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green Green List (high evidence)	SLC25A22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 3, MIM# 609304 Tags
Green Green List (high evidence)	SLC2A1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Tags
Green Green List (high evidence)	SLC32A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 Developmental and epileptic encephalopathy 114, MIM# 620774 Tags
Green Green List (high evidence)	SLC35A2	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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854 Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) 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)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 Tags
Green Green List (high evidence)	SLC46A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Folate malabsorption, hereditary MIM# 229050 Decreased Ig levels megaloblastic anaemia failure to thrive Immunodeficiency if untreated for prolonged periods results in intellectual disability oral mucositis hypoimmunoglobulinaemia recurrent infections seizures motor impairment leukopaenia thrombocytopaenia Tags
Green Green List (high evidence)	SLC5A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay epilepsy neurodegeneration Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green Green List (high evidence)	SLC6A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoclonic-atonic epilepsy, MIM#616421 Tags
Green Green List (high evidence)	SLC6A19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hartnup disorder, MIM# 234500 Tags
Green Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green Green List (high evidence)	SLC9A6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278 Tags
Green Green List (high evidence)	SLITRK2	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 Intellectual developmental disorder, X-linked 111, MIM# 301107 Tags
Green Green List (high evidence)	SMARCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Nicolaides-Baraitser syndrome, MIM# 601358 Tags
Green Green List (high evidence)	SMARCB1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 3, MIM# 614608 Epilepsy Tags
Green Green List (high evidence)	SMARCC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Coffin-Siris syndrome 8 OMIM #618362 Tags
Green Green List (high evidence)	SMC1A	2 reviews 2 green	Other	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Tags
Green Green List (high evidence)	SMS	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 Snyder-Robinson type, 309583 Tags
Green Green List (high evidence)	SNAP25	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, SNAP25-related Tags
Green Green List (high evidence)	SNAP29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MIM#609528 Tags
Green Green List (high evidence)	SNF8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783 Tags
Green Green List (high evidence)	SNORD118	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Tags
Green Green List (high evidence)	SNX27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes intellectual disability seizures Tags
Green Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes ZTTK syndrome MIM#617140 Tags
Green Green List (high evidence)	SP9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, SP9-related Tags
Green Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 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)	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags
Green Green List (high evidence)	SPTAN1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477 Tags
Green Green List (high evidence)	SPTBN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Tags
Green Green List (high evidence)	SPTBN4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green Green List (high evidence)	SRCAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MIM#619595 Floating-Harbor syndrome MIM#136140 Tags
Green Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency, MONDO:0018274 Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags founder
Green Green List (high evidence)	STAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 47, MIM# 617635 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 Tags
Green Green List (high evidence)	STX1A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, STX1A-related Tags
Green Green List (high evidence)	STX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Tags
Green Green List (high evidence)	STXBP1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Tags
Green Green List (high evidence)	SUCLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Sulfite oxidase deficiency, MIM# 272300 Tags
Green Green List (high evidence)	SURF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Tags
Green Green List (high evidence)	SYN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491 Intellectual developmental disorder, X-linked 50, MIM# 300115 Tags
Green Green List (high evidence)	SYNGAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 5, MIM # 612621 Tags
Green Green List (high evidence)	SYNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 53, MIM# 617389 Tags
Green Green List (high evidence)	SZT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 18, OMIM #615476 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)	TANC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with autistic features and language delay, with or without seizures MIM#618906 Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878 Tags
Green Green List (high evidence)	TARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 21 - 615918 Epilepsy Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 16 MIM#615338 DOORS syndrome MIM#220500 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105 Myoclonic epilepsy, infantile, familial MIM#605021 Tags
Green Green List (high evidence)	TBC1D2B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323 Global developmental delay Intellectual disability Seizures Gingival overgrowth Behavioral abnormality Abnormality of the mandible Abnormality of brain morphology Abnormality of the eye Hearing abnormality Tags
Green Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship 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)	TBCK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Tags
Green Green List (high evidence)	TBL1XR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 41, MIM# 616944 Pierpont syndrome, MIM# 602342 Tags
Green Green List (high evidence)	TBX19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Adrenocorticotropic hormone deficiency - 201400 Tags
Green Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins syndrome, MIM# 610954 Tags
Green Green List (high evidence)	TCP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 Tags
Green Green List (high evidence)	TDP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 23, 616949 Tags
Green Green List (high evidence)	TEFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green Green List (high evidence)	TET3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Beck-Fahrner syndrome MIM#618798 Tags
Green Green List (high evidence)	TFE3	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 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066 Intellectual disability Epilepsy Coarse facial features Tags
Green Green List (high evidence)	TIAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and seizures, MIM# 619908 Tags
Green Green List (high evidence)	TIMM50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type IX, MIM#617698 Tags
Green Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069 Tags
Green Green List (high evidence)	TMEM163	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green Green List (high evidence)	TMEM222	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470 Motor delay Delayed speech and language development Intellectual disability Generalized hypotonia Broad-based gait Abnormality of nervous system morphology Seizures Microcephaly Behavioral abnormality Tags
Green Green List (high evidence)	TMEM63B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related Tags
Green Green List (high evidence)	TMTC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 8, MIM#617255 Tags
Green Green List (high evidence)	TMX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly ID brain malformations seizures Tags
Green Green List (high evidence)	TNPO2	2 reviews 2 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)	TPK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 Tags
Green Green List (high evidence)	TPP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769 Tags
Green Green List (high evidence)	TRA2B	2 reviews 2 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)	TRAK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 68, MIM# 618201 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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship 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)	TRAPPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741 Tags
Green Green List (high evidence)	TRAPPC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Tags
Green Green List (high evidence)	TREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MIM#618193 Tags
Green Green List (high evidence)	TREX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive Chilblain lupus {Systemic lupus erythematosus, susceptibility to} Vasculopathy, retinal, with cerebral leukodystrophy Tags
Green Green List (high evidence)	TRIM8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428 Intellectual disability Seizures Tags
Green Green List (high evidence)	TRIO	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825 Tags
Green Green List (high evidence)	TRIT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 35 MIM#617873 Tags
Green Green List (high evidence)	TRMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Tags
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Literature Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 Tags
Green Green List (high evidence)	TRPM3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Tags
Green Green List (high evidence)	TRPM6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypomagnesemia 1, intestinal, MIM#602014 Tags
Green Green List (high evidence)	TRPM7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related Tags
Green Green List (high evidence)	TRRAP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay with or without dysmorphic facies and autism, MIM#618454 Tags
Green Green List (high evidence)	TSC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Tuberous sclerosis 1, MIM# 191100 Tags
Green Green List (high evidence)	TSC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Tuberous sclerosis 2, MIM# 613254 Tags
Green Green List (high evidence)	TSEN2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 2F, MIM#617026 Tags
Green Green List (high evidence)	TSEN54	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2A, MIM# 277470 Tags
Green Green List (high evidence)	TSFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TSPYL1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Sudden infant death with dysgenesis of the testes syndrome - 608800 sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 Tags
Green Green List (high evidence)	TUBA1A	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, MIM# 611603 Tags
Green Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771 Tags
Green Green List (high evidence)	TUBB2A	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Cortical dysplasia, complex, with other brain malformations 5, MIM#615763 Tags
Green Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 Tags
Green Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 Tags
Green Green List (high evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 6, OMIM # 612438 Tags
Green Green List (high evidence)	TUBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412 Tags
Green Green List (high evidence)	TUBGCP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737 Tags
Green Green List (high evidence)	TUBGCP6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270 Epilepsy Tags
Green Green List (high evidence)	TWNK	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green Green List (high evidence)	U2AF2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Green Green List (high evidence)	UBAP2L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494 Delayed speech and language development Motor delay Intellectual disability Autistic behavior Seizures Microcephaly Abnormality of head or neck Short stature Abnormality of the skeletal system Tags
Green Green List (high evidence)	UBE2A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860 Tags
Green Green List (high evidence)	UBE3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Angelman syndrome, MIM#105830 Tags
Green Green List (high evidence)	UBR5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, UBR5-related Tags
Green Green List (high evidence)	UBR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Li-Campeau syndrome, MIM# 619189 Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green Green List (high evidence)	UFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 14, MIM# 617899 Tags
Green Green List (high evidence)	UFSP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 106, MIM# 620028 Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder
Green Green List (high evidence)	UGDH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
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)	UMPS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Orotic aciduria - 258900 Epilepsy Tags
Green Green List (high evidence)	UNC13A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, UNC13A-related Tags
Green Green List (high evidence)	UNC79	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), UNC79-related Tags
Green Green List (high evidence)	UNC80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship 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)	USP18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pseudo-TORCH syndrome 2, MIM#617397 Tags treatable
Green Green List (high evidence)	USP25	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064 Tags
Green Green List (high evidence)	VAMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Cortical visual impairment Seizures Stereotypic behaviour Generalized hypotonia Intellectual disability Tags
Green Green List (high evidence)	VARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM #617802 Tags
Green Green List (high evidence)	VARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 20, 615917 Epilepsy Tags
Green Green List (high evidence)	VPS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green Green List (high evidence)	VPS13A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Choreoacanthocytosis MIM#200150 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	3 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)	WAC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Desanto-Shinawi syndrome MIM#616708 Tags
Green Green List (high evidence)	WARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Tags
Green Green List (high evidence)	WASF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 Tags
Green Green List (high evidence)	WDR26	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Skraban-Deardorff syndrome MIM# 617616 Tags
Green Green List (high evidence)	WDR37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurooculocardiogenitourinary syndrome, MIM# 618652 Tags
Green Green List (high evidence)	WDR45	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 Australian Genomics Health Alliance Epilepsy Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894 Rett syndrome Rett-like phenotypes Tags
Green Green List (high evidence)	WDR45B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977 Tags
Green Green List (high evidence)	WDR47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship 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 Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 1 MIM#251300 Tags
Green Green List (high evidence)	WNK3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Prieto syndrome, MIM# 309610 Tags
Green Green List (high evidence)	WWOX	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 28, MIM# 616211 Tags SV/CNV
Green Green List (high evidence)	YIF1B	2 reviews 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)	YWHAG	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 56, (MIMI#617665) Tags
Green Green List (high evidence)	ZBTB18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 22, MIM# 612337 Tags
Green Green List (high evidence)	ZBTB47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Tags
Green Green List (high evidence)	ZDHHC9	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Mental retardation, X-linked syndromic, Raymond type, MIM#300799 Tags
Green Green List (high evidence)	ZEB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags SV/CNV
Green Green List (high evidence)	ZFHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes developmental and epileptic encephalopathy MONDO:0100062 Tags
Green Green List (high evidence)	ZMYND11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 30 MIM# 616083 Tags
Green Green List (high evidence)	ZMYND8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related Delayed speech and language development Motor delay Intellectual disability Abnormality of cardiovascular system morphology Hearing abnormality Abnormality of vision Abnormality of the face Seizures Tags
Green Green List (high evidence)	ZNF142	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425 Tags
Green Green List (high evidence)	ZNF335	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly 10, primary, autosomal recessive (MIM#615095) Tags
Green Green List (high evidence)	ZNF526	2 reviews 2 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
Green Green List (high evidence)	ZSWIM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Acromelic frontonasal dysostosis MIM#603671 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865 Tags
Amber Amber List (moderate evidence)	AARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 8, 614096 Leukoencephalopathy progressive with ovarian failure, 615889 Tags
Amber Amber List (moderate evidence)	ABHD16A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 seizures myoclonic seizures developmental delay Tags
Amber Amber List (moderate evidence)	ADAT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mental retardation autosomal recessive 36, 615286 Tags
Amber Amber List (moderate evidence)	ADGRL1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 Tags
Amber Amber List (moderate evidence)	ADGRV1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Expert Review Green Phenotypes Myoclonic epilepsy febrile seizures epilepsy Rolandic epilepsy Tags
Amber Amber List (moderate evidence)	AP3D1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hermansky-Pudlak syndrome 10, MIM# 617050 Tags
Amber Amber List (moderate evidence)	AQP4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber Amber List (moderate evidence)	ATP5A1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Tags new gene name
Amber Amber List (moderate evidence)	ATP5E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags
Amber Amber List (moderate evidence)	B4GAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287 Tags
Amber Amber List (moderate evidence)	BICD2	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodevelopmental disorder, BICD2-related (MONDO#0700092) Tags
Amber Amber List (moderate evidence)	CACNB4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 Tags
Amber Amber List (moderate evidence)	CAMK2D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Tags
Amber Amber List (moderate evidence)	CCT6A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, CCT6A-related Tags
Amber Amber List (moderate evidence)	CDC42BPB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 Tags
Amber Amber List (moderate evidence)	CDK5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lissencephaly 7 with cerebellar hypoplasia MIM#616342 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)	COG4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj, MIM#613489 Tags
Amber Amber List (moderate evidence)	COG6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 6, MIM#614650 Tags
Amber Amber List (moderate evidence)	COG8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIh, 611182 Tags
Amber Amber List (moderate evidence)	COLGALT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Expert Review Green Other Phenotypes Brain small vessel disease 3 MIM#618360 Tags
Amber Amber List (moderate evidence)	COQ6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 6, MIM#614650 Tags
Amber Amber List (moderate evidence)	COX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Amber Amber List (moderate evidence)	COX15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MIM#615119 and Leigh syndrome #256000 Tags
Amber Amber List (moderate evidence)	CP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Tags
Amber Amber List (moderate evidence)	CUL3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with or without autism or seizures, MIM# 619239 Global developmental delay Intellectual disability Seizures Abnormality of cardiovascular system morphology Abnormality of the palate Tags
Amber Amber List (moderate evidence)	DALRD3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epileptic encephalopathy Epileptic encephalopathy, early infantile, 86 618910 Tags
Amber Amber List (moderate evidence)	DARS2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Amber Amber List (moderate evidence)	DHFR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Amber Amber List (moderate evidence)	DNAJC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Parkinson disease 19b, early-onset, MIM#615528 Tags
Amber Amber List (moderate evidence)	DPM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu, MIM#615042 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)	DTYMK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Tags
Amber Amber List (moderate evidence)	EMX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Schizencephaly, MIM# 269160 Tags disputed
Amber Amber List (moderate evidence)	FAM50A	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 Expert Review Green Literature Phenotypes Mental retardation syndrome, X-linked, Armfield type (MIM #300261) Tags
Amber Amber List (moderate evidence)	FAR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Tags
Amber Amber List (moderate evidence)	FKRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 Tags
Amber Amber List (moderate evidence)	FRA10AC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Tags
Amber Amber List (moderate evidence)	GATAD2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Mental retardation, autosomal dominant 18, OMIM # 615074 Tags
Amber Amber List (moderate evidence)	GATM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718 Tags
Amber Amber List (moderate evidence)	GMPPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Tags
Amber Amber List (moderate evidence)	GPSM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Chudley-McCullough syndrome, MIM# 604213 Tags
Amber Amber List (moderate evidence)	HCCS	1 review	Other	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 Tags
Amber Amber List (moderate evidence)	HDAC8	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 list Expert Review Amber Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Amber Amber List (moderate evidence)	HEATR5B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures Tags
Amber Amber List (moderate evidence)	HNRNPK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Au-Kline syndrome MIM#616580 Tags
Amber Amber List (moderate evidence)	HOXA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 Tags
Amber Amber List (moderate evidence)	HPRT1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lesch-Nyhan syndrome Tags
Amber Amber List (moderate evidence)	JAKMIP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related Tags
Amber Amber List (moderate evidence)	JMJD1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual disability (MONDO#0001071), JMJD1C-related Tags
Amber Amber List (moderate evidence)	KCNB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KCNB2-related Tags
Amber Amber List (moderate evidence)	KCNJ3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Epilepsy (MONDO#0005027), KCNJ3-related Tags
Amber Amber List (moderate evidence)	KIF4A	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Amber Phenotypes Intellectual developmental disorder, X-linked 100 MIM#300923 Tags
Amber Amber List (moderate evidence)	LARGE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840 Tags
Amber Amber List (moderate evidence)	LMNB1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Short stature Seizures Abnormality of the corpus callosum Cortical gyral simplification Feeding difficulties Scoliosis Tags
Amber Amber List (moderate evidence)	LMNB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Epilepsy, progressive myoclonic, 9 MIM#616540 Tags
Amber Amber List (moderate evidence)	LRPPRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111) Tags
Amber Amber List (moderate evidence)	LYST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Chediak-Higashi syndrome, MIM#214500 Tags
Amber Amber List (moderate evidence)	MANBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mannosidosis, beta, MIM#248510 Tags
Amber Amber List (moderate evidence)	MAPK8IP3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443 Tags
Amber Amber List (moderate evidence)	MDH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes epilepsy microcephaly intellectual disability Epileptic encephalopathy, early infantile, 88, MIM#618959 Tags
Amber Amber List (moderate evidence)	MICAL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Autosomal dominant epilepsy with auditory features (ADEAF) Tags
Amber Amber List (moderate evidence)	NAGA	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Schindler disease, type I and type II 609241 Tags
Amber Amber List (moderate evidence)	NDUFA2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 Tags
Amber Amber List (moderate evidence)	NDUFA8	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 37 - 619272 Epilepsy Microcephaly Developmental Delay Tags
Amber Amber List (moderate evidence)	NDUFAF3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFAF4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leigh syndrome, MIM#256000 Tags
Amber Amber List (moderate evidence)	NDUFV2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 Tags
Amber Amber List (moderate evidence)	NECAP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epileptic encephalopathy, early infantile, 21, MIM#615833 Tags
Amber Amber List (moderate evidence)	NF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurofibromatosis, type 1 (MIM#162200) Tags
Amber Amber List (moderate evidence)	NSF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 96, MIM# 619340 Seizures EEG with burst suppression Global developmental delay Intellectual disability Tags
Amber Amber List (moderate evidence)	NUBPL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	OFD1	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 Orofaciodigital syndrome I (MIM#311200) Tags
Amber Amber List (moderate evidence)	OTUD5	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 Tags
Amber Amber List (moderate evidence)	OTUD7A	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Tags
Amber Amber List (moderate evidence)	OTX2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 5 610125 Tags
Amber Amber List (moderate evidence)	PAK2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Knobloch 2 syndrome MIM#618458 Tags
Amber Amber List (moderate evidence)	PAK3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 30 (MIM#300558) Tags
Amber Amber List (moderate evidence)	PAX6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Aniridia (MIM#106210) Tags
Amber Amber List (moderate evidence)	PDSS2	2 reviews 1 green	Unknown	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 3, MIM#614652 Tags
Amber Amber List (moderate evidence)	PGAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Amber Amber List (moderate evidence)	PGM3	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Idiopathic focal epilepsy Immunodeficiency 23, MIM# 615816 Tags
Amber Amber List (moderate evidence)	PIK3C2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes familial partial epilepsy - MONDO#0017704 Tags
Amber Amber List (moderate evidence)	POLG2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 Tags
Amber Amber List (moderate evidence)	POLR1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Acrofacial dysostosis, Cincinnati type MIM#616462 Tags
Amber Amber List (moderate evidence)	POMGNT2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830 Tags
Amber Amber List (moderate evidence)	POMK	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249 Tags
Amber Amber List (moderate evidence)	POMT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 Tags
Amber Amber List (moderate evidence)	POU3F3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Literature Phenotypes Snijders Blok-Fisher syndrome MIM#618604 Tags
Amber Amber List (moderate evidence)	PPP1CB	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506 Tags
Amber Amber List (moderate evidence)	PPP2R2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Tags
Amber Amber List (moderate evidence)	PRICKLE2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Tags
Amber Amber List (moderate evidence)	PSAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Phosphoserine aminotransferase deficiency, MIM#610992 Tags
Amber Amber List (moderate evidence)	PSPH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Phosphoserine phosphatase deficiency, MIM#614023 Tags
Amber Amber List (moderate evidence)	PTF1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Pancreatic and cerebellar agenesis, MIM#609069 Tags
Amber Amber List (moderate evidence)	RAB3GAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 1, MIM#600118 Tags
Amber Amber List (moderate evidence)	RAB3GAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Martsolf syndrome, MIM#212720 Warburg micro syndrome 2, MIM#614225 Tags
Amber Amber List (moderate evidence)	RALGAPB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorders, autism Tags
Amber Amber List (moderate evidence)	RBFOX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related Tags
Amber Amber List (moderate evidence)	RBL2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 Tags
Amber Amber List (moderate evidence)	RNF2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lou-Schoch-Yamamoto syndrome , MIM#619460 epilepsy intellectual disability intrauterine growth retardation Tags
Amber Amber List (moderate evidence)	RPIA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Ribose 5-phosphate isomerase deficiency, MIM 608611 Tags
Amber Amber List (moderate evidence)	RUSC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 61, MIM# 617773 Tags
Amber Amber List (moderate evidence)	RYR3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert list Expert Review Amber Phenotypes undetermined early-onset epileptic encephalopathy (MONDO:0018614) Tags
Amber Amber List (moderate evidence)	SACS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Amber Amber List (moderate evidence)	SCO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Amber Amber List (moderate evidence)	SDHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leigh syndrome, MIM#256000 Tags
Amber Amber List (moderate evidence)	SIX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 2, MIM#157170 Tags
Amber Amber List (moderate evidence)	SLC31A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Amber Amber List (moderate evidence)	SLC35A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Amber Amber List (moderate evidence)	SLC35A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Arthrogryposis, mental retardation, and seizures OMIM #615553 Tags
Amber Amber List (moderate evidence)	SLC45A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Tags
Amber Amber List (moderate evidence)	SNIP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 Tags founder
Amber Amber List (moderate evidence)	SPEN	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome MIM#619312 Tags
Amber Amber List (moderate evidence)	SRD5A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379 Tags
Amber Amber List (moderate evidence)	ST3GAL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 15 , MIM#615006 Tags
Amber Amber List (moderate evidence)	SUCLG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400 Tags
Amber Amber List (moderate evidence)	SV2A	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SV2A-related Developmental and epileptic encephalopathy 113, MIM# 620772 Tags
Amber Amber List (moderate evidence)	SYNCRIP	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags
Amber Amber List (moderate evidence)	TBC1D20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 4, MIM#615663 Tags
Amber Amber List (moderate evidence)	TCEAL1	3 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 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Tags
Amber Amber List (moderate evidence)	THG1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 28 - 618800 Epilepsy Intellectual disability Tags
Amber Amber List (moderate evidence)	THOC2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 12 MIM#300957 Tags
Amber Amber List (moderate evidence)	TLK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 57 MIM#618050 Tags
Amber Amber List (moderate evidence)	TMEM106B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 16 (MIM #617964) Tags
Amber Amber List (moderate evidence)	TMEM70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 Tags
Amber Amber List (moderate evidence)	TNK2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes severe infantile onset epilepsy Tags
Amber Amber List (moderate evidence)	TRAF7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 Tags
Amber Amber List (moderate evidence)	TRIP12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 49 MIM#617752 Tags
Amber Amber List (moderate evidence)	TRIP13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Tags founder
Amber Amber List (moderate evidence)	TSEN15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia, type 2F MIM#617026 Tags
Amber Amber List (moderate evidence)	UBTF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Tags
Amber Amber List (moderate evidence)	VLDLR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050 Tags
Amber Amber List (moderate evidence)	XPR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Basal ganglia calcification, idiopathic, 6 MIM#616413 Tags
Amber Amber List (moderate evidence)	ZMIZ1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659 Tags
Red Red List (low evidence)	ADCY5	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dyskinesia with orofacial involvement MIM#606703 Tags
Red Red List (low evidence)	ADRA2B	1 review 1 red	Unknown	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Cortical myoclonus and epilepsy Tags
Red Red List (low evidence)	AFDN	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Epilepsy, MONDO:0015653 Tags SV/CNV
Red Red List (low evidence)	AFG3L2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246 Tags
Red Red List (low evidence)	AGO3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Intellectual disability Tags
Red Red List (low evidence)	ALG10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Tags
Red Red List (low evidence)	ALG12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig OMIM: 607144 Tags
Red Red List (low evidence)	ALG2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228 Congenital disorder of glycosylation, type Ii, MIM# 607906 Tags
Red Red List (low evidence)	ALX4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Expert Review Red Phenotypes Parietal foramina 2, MIM# 609597 Tags
Red Red List (low evidence)	ATP5G3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Dystonia, early-onset, and/or spastic paraplegia MIM#619681 Tags
Red Red List (low evidence)	AUTS2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Intellectual developmental disorder, autosomal dominant 26 MIM#615834 Tags
Red Red List (low evidence)	BCL11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Dias-Logan syndrome, MIM# 617101 Tags
Red Red List (low evidence)	BET1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Tags
Red Red List (low evidence)	C19orf12	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neurodegeneration with brain iron accumulation 4 MIM#614298 Tags
Red Red List (low evidence)	CAMLG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation type IIz, OMIM #: 620201 Tags
Red Red List (low evidence)	CAMTA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756 Tags
Red Red List (low evidence)	CCDC186	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epileptic encephalopathy Tags
Red Red List (low evidence)	CCDC22	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Ritscher-Schinzel syndrome 2 MIM#300963 Tags
Red Red List (low evidence)	CCM2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Expert Review Red Phenotypes Cerebral cavernous malformations-2, MIM#603284 Tags
Red Red List (low evidence)	CCND2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 Tags
Red Red List (low evidence)	CENPF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Stromme syndrome MIM#243605 Tags
Red Red List (low evidence)	CHRM1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Expert Review Red Literature Phenotypes Neurodevelopmental disorder intellectual disability autism epilepsy Tags
Red Red List (low evidence)	CHRNA7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes intellectual disability seizures hypotonia Tags cnv
Red Red List (low evidence)	CLASP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder MONDO:0700092, CLASP1-related Tags
Red Red List (low evidence)	CLCN2	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Tags refuted
Red Red List (low evidence)	CPA6	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Epilepsy, familial temporal lobe, 5, MIM#614417 Febrile seizures, familial, 11, MIM#614418 Tags disputed refuted
Red Red List (low evidence)	CSNK1E	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related Tags
Red Red List (low evidence)	DAB1	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes epilepsy developmental delay cerebellar ataxia structural brain abnormalities oral motor difficulty Tags
Red Red List (low evidence)	DAG1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Walker-Warburg syndrome and tectocerebellar dysgraphia Tags
Red Red List (low evidence)	DNAH14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Tags disputed
Red Red List (low evidence)	EED	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cohen-Gibson syndrome, MIM# 617561 Tags
Red Red List (low evidence)	EFHC1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 Tags refuted
Red Red List (low evidence)	EXOSC8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 1C, MIM#616081 Tags
Red Red List (low evidence)	FIG4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Polymicrogyria, bilateral temporooccipital, MIM#612691 Tags
Red Red List (low evidence)	GABBR1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Literature Phenotypes Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 Tags
Red Red List (low evidence)	GABRA6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes BFIE CAE Tags
Red Red List (low evidence)	GABRG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes developmental and epileptic encephalopathy MONDO:0100062 Tags
Red Red List (low evidence)	GRIA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 Tags
Red Red List (low evidence)	GUF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 40, MIM# 617065 Tags
Red Red List (low evidence)	HCN4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM# 619521 Tags
Red Red List (low evidence)	IARS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MIM#616007 Tags
Red Red List (low evidence)	IBA57	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 3 MIM#615330 Tags
Red Red List (low evidence)	IDH1	1 review 1 red	Other	Sources Expert Review Red Literature Phenotypes Ollier disease MONDO:0008145 Maffucci syndromeMONDO:0013808 Tags
Red Red List (low evidence)	INTS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572 Tags
Red Red List (low evidence)	ITGB4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epidermolysis bullosa, junctional 5A, intermediate MIM#619816 Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730 Tags
Red Red List (low evidence)	JARID2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Developmental delay with variable intellectual disability and dysmorphic facies MIM#620098 Tags
Red Red List (low evidence)	KCNAB3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related Tags
Red Red List (low evidence)	KCNIP4	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes seizures epilepsy Tags
Red Red List (low evidence)	KCNN3	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Red Literature Phenotypes Zimmermann-Laband syndrome 3 MIM#618658 Tags
Red Red List (low evidence)	KCTD13	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Tags
Red Red List (low evidence)	KDM5A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, KDM5A-related Tags
Red Red List (low evidence)	KDM6A	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 Kabuki syndrome 2 MIM#300867 Tags
Red Red List (low evidence)	KIF1BP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags
Red Red List (low evidence)	KMT2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Dystonia 28, childhood-onset MIM#617284 Intellectual developmental disorder, autosomal dominant 68 MIM#619934 Tags
Red Red List (low evidence)	KPNA7	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), KPNA7-related Tags
Red Red List (low evidence)	LMX1B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Focal segmental glomerulosclerosis 10 MIM#256020 Nail-patella syndrome MIM#161200 Tags
Red Red List (low evidence)	MAGI2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Monogenic epilepsy, MONDO:0015653, MAGI2-related Tags
Red Red List (low evidence)	MCM3AP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124) Tags
Red Red List (low evidence)	MMS19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodegenerative disease, MONDO:0005559, MMS19-related Tags
Red Red List (low evidence)	NAT8L	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	NDP	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Norrie disease, MIM#310600 Tags
Red Red List (low evidence)	NDUFA10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Tags
Red Red List (low evidence)	NDUFA11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Red Red List (low evidence)	NDUFA6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 33, MIM#618253 Tags
Red Red List (low evidence)	OCRL	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Lowe syndrome MIM#309000 Tags
Red Red List (low evidence)	ODC1	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Literature Phenotypes Bachmann-Bupp syndrome 619075 Tags
Red Red List (low evidence)	OGT	3 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 106 MIM#300997 Tags
Red Red List (low evidence)	OSTC	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red Red List (low evidence)	PANK2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodegeneration with brain iron accumulation 1 MIM#234200 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)	PIGF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM#619356 Tags
Red Red List (low evidence)	PLXNC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Malformations of cortical development Tags
Red Red List (low evidence)	PRDM8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Epilepsy, progressive myoclonic, 10 MIM#616640 Tags
Red Red List (low evidence)	PRICKLE1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 1B, MIM# 612437 Tags
Red Red List (low evidence)	PRIMA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Frontal Lobe Epilepsy MONDO:0002612 Tags
Red Red List (low evidence)	PTBP1	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red Red List (low evidence)	PTCH1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Holoprosencephaly 7, MIM# 610828 Tags
Red Red List (low evidence)	RAB11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability seizures Tags
Red Red List (low evidence)	SCN10A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Episodic pain syndrome, familial, 2 MIM#615551 Neurodevelopmental disorder (MONDO#0700092), SCN10A-related Tags
Red Red List (low evidence)	SCN9A	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes {Dravet syndrome, modifier of} MIM#607208 Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863 Febrile seizures, familial, 3B MIM#613863 Tags
Red Red List (low evidence)	SLC22A5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intractable epilepsy Tags
Red Red List (low evidence)	SLC4A4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Tags
Red Red List (low evidence)	SLC7A6OS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epilepsy, progressive myoclonic, 12, MIM# 619191 Progressive myoclonus epilepsy Tags
Red Red List (low evidence)	SMARCA4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Refractory seizures Tags
Red Red List (low evidence)	SMARCE1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Coffin-Siris syndrome 5 MIM#616938 Tags
Red Red List (low evidence)	SOX11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MIM#615866 Tags
Red Red List (low evidence)	STAT3	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red Red List (low evidence)	SUMF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Multiple sulfatase deficiency MIM#272200 Tags
Red Red List (low evidence)	SV2B	2 reviews 2 red	Unknown	Sources Expert Review Red Literature Phenotypes seizures Tags
Red Red List (low evidence)	SYNE1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags
Red Red List (low evidence)	TAF1C	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Tags
Red Red List (low evidence)	TAOK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575 Tags
Red Red List (low evidence)	TBC1D7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000 Tags
Red Red List (low evidence)	TGIF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Holoprosencephaly 4 MIM#142946 Tags
Red Red List (low evidence)	TMEM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041 Tags
Red Red List (low evidence)	TNRC6A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Epilepsy, familial adult myoclonic, 6 MIM#618074 Tags
Red Red List (low evidence)	TRAPPC2L	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Red Red List (low evidence)	TRPC3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Red Literature Phenotypes ?Spinocerebellar ataxia 41 - 616410 Tags
Red Red List (low evidence)	TSEN34	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia type 2C, MIM#612390 Tags
Red Red List (low evidence)	TUBA8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM#613180 Tags
Red Red List (low evidence)	UGGT1	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red Red List (low evidence)	UNC13B	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Phenotypes Epilepsy Tags
Red Red List (low evidence)	WASHC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 43 MIM#615817 Tags
Red Red List (low evidence)	WDFY3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Microcephaly 18, primary, autosomal dominant MIM#617520 Tags
Red Red List (low evidence)	YEATS2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes ?Epilepsy, myoclonic, familial adult, 4 MIM#615127 Tags STR
Red Red List (low evidence)	ZDHHC15	3 reviews 3 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 Literature Victorian Clinical Genetics Services Phenotypes Intellectual disability, X-linked 91, 300577 Tags
Red Red List (low evidence)	ZIC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Holoprosencephaly 5 MIM#609637 Tags
No list No list	FAME1 STR	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Phenotypes Epilepsy, familial adult myoclonic, 1 MIM#601068 Tags
No list No list	RAPGEF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 Tags STR
No list No list	SAMD12	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Removed Literature Phenotypes Epilepsy, familial adult myoclonic, 1, MIM# 601068 Tags deep intronic STR
No list No list	STARD7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes Epilepsy, familial adult myoclonic, 2, 607876 Tags STR

Major version comments

2024-05-22 01:40 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Genetic Epilepsy (Version 1.108)

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