Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACTL6B gene ACTL6B Expert Review;Expert Review Green Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470" 31031012 False 3 100;0;0 1.11 True ENSG00000077080 ENSG00000077080 HGNC:160 ADSL gene ADSL Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency, MIM# 103050 False 3 100;0;0 1.11 True ENSG00000239900 ENSG00000239900 HGNC:291 ASXL3 gene ASXL3 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bainbridge-Ropers syndrome (OMIM # 615485) 28100473;27901041;23383720 False 3 100;0;0 1.11 True ENSG00000141431 ENSG00000141431 HGNC:29357 ATRX gene ATRX Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ATR-X-related syndrome MONDO:0016980 20301622 False 3 100;0;0 1.11 True ENSG00000085224 ENSG00000085224 HGNC:886 CDKL5 gene CDKL5 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic encephalopathy, early infantile, 2, MIM 300672 27080038;30842224 False 3 100;0;0 1.11 True ENSG00000008086 ENSG00000008086 HGNC:11411 EEF1A2 gene EEF1A2 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 38, MIM# 616393;MONDO:0014617;Developmental and epileptic encephalopathy 33, MIM# 616409;MONDO:0014625 24697219;32196822;32160274;32062104;31893083 False 3 100;0;0 1.11 True ENSG00000101210 ENSG00000101210 HGNC:3192 EHMT1 gene EHMT1 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome 1, MIM# 610253;MONDO:0027407 16826528;19264732;19293338;22670143;30448833 False 3 100;0;0 1.11 True ENSG00000181090 ENSG00000181090 HGNC:24650 FOXG1 gene FOXG1 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett syndrome, congenital variant, MIM# 613454 21441262;19564653;19578037 False 3 100;0;0 1.11 True ENSG00000176165 ENSG00000176165 HGNC:3811 GABBR2 gene GABBR2 Expert list;Expert Review Green Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903" 28856709;26740508;29369404 False 3 100;0;0 1.11 True ENSG00000136928 ENSG00000136928 HGNC:4507 GRIN2B gene GRIN2B Expert list;Expert Review Green Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, autosomal dominant 6, MIM# 613970;Developmental and epileptic encephalopathy 27, MIM# 616139" 31409060;28734458 False 3 100;0;0 1.11 True ENSG00000273079 ENSG00000273079 HGNC:4586 HECTD4 gene HECTD4 Expert Review Green;Literature Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250 False 3 100;0;0 1.11 True ENSG00000173064 ENSG00000173064 HGNC:26611 HECW2 gene HECW2 Expert Review Green;Literature Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268;intellectual disability;epilepsy;regression;microcephaly 29807643;29395664;27334371;27389779 False 3 100;0;0 1.11 True Other ENSG00000138411 ENSG00000138411 HGNC:29853 HERC2 gene HERC2 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 38 (MIM 615516) 23065719;23243086;30902390;32571899;27848944;26077850;27759030 False 3 100;0;0 1.11 True ENSG00000128731 ENSG00000128731 HGNC:4868 IQSEC2 gene IQSEC2 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656;Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347" 33368194;20473311;23674175 False 3 100;0;0 1.11 True ENSG00000124313 ENSG00000124313 HGNC:29059 KANSL1 gene KANSL1 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Koolen-De Vries syndrome, MIM# 610443;MONDO:0012496 19447831;22544367;22544363 False 3 100;0;0 1.11 True ENSG00000120071 ENSG00000120071 HGNC:24565 KCNA2 gene KCNA2 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 32, MIM#616366 29050392;27062609 False 3 100;0;0 1.11 True ENSG00000177301 ENSG00000177301 HGNC:6220 KCNQ2 gene KCNQ2 Expert list;Expert Review Green Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 7, MIM# 613720" 31105003;33134511 False 3 100;0;0 1.11 True ENSG00000075043 ENSG00000075043 HGNC:6296 KIF1A gene KIF1A Expert Review Green;Literature Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "NESCAV syndrome, MIM# 614255;Rett-like syndrome" 31512412;32652677 False 3 100;0;0 1.11 True ENSG00000130294 ENSG00000130294 HGNC:888 MBD5 gene MBD5 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 1, MIM# 156200;MONDO:0007974 18812405;21981781;23708187;22726846;33912662 False 3 100;0;0 1.11 True ENSG00000204406 ENSG00000204406 HGNC:20444 MECP2 gene MECP2 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rett syndrome, MIM# 312750;MONDO:0010726 False 3 100;0;0 1.11 True ENSG00000169057 ENSG00000169057 HGNC:6990 MEF2C gene MEF2C Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443;MONDO:0013266 19876902;19471318;19592390;19592390;20513142;34055696;34022131 False 3 100;0;0 1.11 True ENSG00000081189 ENSG00000081189 HGNC:6996 NTNG2 gene NTNG2 Expert Review Green;Literature Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718" 31668703;31692205 False 3 100;0;0 1.11 True ENSG00000196358 ENSG00000196358 HGNC:14288 SATB2 gene SATB2 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, MIM# 612313;MONDO:0100147 29023086;28151491;32446642 False 3 100;0;0 1.11 True ENSG00000119042 ENSG00000119042 HGNC:21637 SCN2A gene SCN2A Expert list;Expert Review Green Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developmental and epileptic encephalopathy 11, MIM# 613721;Rett-like" 31105003 False 3 100;0;0 1.11 True ENSG00000136531 ENSG00000136531 HGNC:10588 SHANK3 gene SHANK3 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652 16284256;17173049;20186804;22892527 False 3 100;0;0 1.11 True ENSG00000251322 ENSG00000251322 HGNC:14294 SLC9A6 gene SLC9A6 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243;MONDO:0010278 18342287;19377476;25044251;33278113;32569089;31879735 False 3 100;0;0 1.11 True ENSG00000198689 ENSG00000198689 HGNC:11079 SMC1A gene SMC1A Expert list;Expert Review Green Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes Other "Cornelia de Lange syndrome 2, MIM# 300590;Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044" 29023665;31409060 False 3 100;0;0 1.11 True ENSG00000072501 ENSG00000072501 HGNC:11111 STXBP1 gene STXBP1 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 4, MIM# 612164 31344879 False 3 100;0;0 1.11 True ENSG00000136854 ENSG00000136854 HGNC:11444 SYNGAP1 gene SYNGAP1 Expert list;Expert Review Green Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, autosomal dominant 5, MIM# 612621" 31105003 False 3 100;0;0 1.11 True ENSG00000197283 ENSG00000197283 HGNC:11497 SYT1 gene SYT1 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baker-Gordon syndrome, MIM# 618218;MONDO:0033864 30107533 False 3 100;0;0 1.11 True ENSG00000067715 ENSG00000067715 HGNC:11509 TCF4 gene TCF4 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pitt-Hopkins syndrome, MIM# 610954 False 3 100;0;0 1.11 True ENSG00000196628 ENSG00000196628 HGNC:11634 UBE3A gene UBE3A Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome, MIM#105830 False 3 100;0;0 1.11 True ENSG00000114062 ENSG00000114062 HGNC:12496 UBE3C gene UBE3C Expert Review Green;Literature Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270 False 3 100;0;0 1.11 True ENSG00000009335 ENSG00000009335 HGNC:16803 WDR45 gene WDR45 Expert list;Expert Review Green Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes Other "Neurodegeneration with brain iron accumulation 5, MIM# 300894" 26790960;31409060 False 3 100;0;0 1.11 True ENSG00000196998 ENSG00000196998 HGNC:28912 ZEB2 gene ZEB2 Expert Review Green;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341 27831545;24715670;19215041;17958891 False 3 100;0;0 1.11 True ENSG00000169554 ENSG00000169554 HGNC:14881 SLC35F1 gene SLC35F1 Expert Review Amber;Literature Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated;Rett-like syndrome 33821533 False 2 0;100;0 1.11 True ENSG00000196376 ENSG00000196376 HGNC:21483 UBTF gene UBTF Expert Review Amber;Victorian Clinical Genetics Services Angelman Rett like syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672;MONDO:0044701 28777933;29300972 False 2 0;100;0 1.11 True ENSG00000108312 ENSG00000108312 HGNC:12511