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 ABCC9 gene ABCC9 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000069431 ENSG00000069431 HGNC:60 AGA gene AGA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, MIM# 208400;MONDO:0008830 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 1703489;1904874;8064811;8946839 False 3 100;0;0 0.149 True ENSG00000038002 ENSG00000038002 HGNC:318 AKT3 gene AKT3 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 28969385 False 3 100;0;0 0.149 True ENSG00000117020 ENSG00000117020 HGNC:393 AMER1 gene AMER1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000184675 ENSG00000184675 HGNC:26837 ANKH gene ANKH Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000154122 ENSG00000154122 HGNC:15492 ARSB gene ARSB Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000113273 ENSG00000113273 HGNC:714 ASPA gene ASPA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000108381 ENSG00000108381 HGNC:756 ASXL2 gene ASXL2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shashi-Pena syndrome, MIM# 617190 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 27693232;33751773 False 3 100;0;0 0.149 True ENSG00000143970 ENSG00000143970 HGNC:23805 ATP7A gene ATP7A Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease MIM#309400 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 100;0;0 0.149 True ENSG00000165240 ENSG00000165240 HGNC:869 AXIN1 gene AXIN1 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 37582359 False 3 100;0;0 0.149 True ENSG00000103126 ENSG00000103126 HGNC:903 BRAF gene BRAF Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRWD3 gene BRWD3 Expert Review Green;Literature Macrocephaly_Megalencephaly 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 93;OMIM # 300659 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 30628072, 24462886 False 3 100;0;0 0.149 False ENSG00000165288 ENSG00000165288 HGNC:17342 CA2 gene CA2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000104267 ENSG00000104267 HGNC:1373 CACNA1E gene CACNA1E Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Epileptic encephalopathy, early infantile, 69 618285" Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 30343943 False 3 100;0;0 0.149 True Other ENSG00000198216 ENSG00000198216 HGNC:1392 CBL gene CBL Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000110395 ENSG00000110395 HGNC:1541 CCND2 gene CCND2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000118971 ENSG00000118971 HGNC:1583 CDKN1C gene CDKN1C Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000129757 ENSG00000129757 HGNC:1786 CHD3 gene CHD3 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000170004 ENSG00000170004 HGNC:1918 CHD4 gene CHD4 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sifrim-Hitz-Weiss syndrome (MIM#617159) Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 31388190;27616479 False 3 100;0;0 0.149 True ENSG00000111642 ENSG00000111642 HGNC:1919 CHD8 gene CHD8 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000100888 ENSG00000100888 HGNC:20153 CLCN7 gene CLCN7 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000103249 ENSG00000103249 HGNC:2025 CTR9 gene CTR9 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), CTR9 related;Macrocephaly Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 35499524;35717577 False 3 100;0;0 0.149 False ENSG00000198730 ENSG00000198730 HGNC:16850 CTSA gene CTSA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSK gene CTSK Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000143387 ENSG00000143387 HGNC:2536 D2HGDH gene D2HGDH Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000180902 ENSG00000180902 HGNC:28358 DICER1 gene DICER1 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DICER1 syndrome, MONDO:0017288 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 27441995 False 3 100;0;0 0.149 True ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000144535 ENSG00000144535 HGNC:28648 DNMT3A gene DNMT3A Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tatton-Brown-Rahman syndrome, OMIM# 615879 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 24614070 False 3 100;0;0 0.149 True ENSG00000119772 ENSG00000119772 HGNC:2978 EED gene EED Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000074266 ENSG00000074266 HGNC:3188 EEF2 gene EEF2 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;macrocephaly;hydrocephalus Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 33355653 False 3 100;0;0 0.149 True ENSG00000167658 ENSG00000167658 HGNC:3214 EZH2 gene EZH2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome MIM#277590 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 29244146;23865096 False 3 100;0;0 0.149 True ENSG00000106462 ENSG00000106462 HGNC:3527 FERMT3 gene FERMT3 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000149781 ENSG00000149781 HGNC:23151 FUCA1 gene FUCA1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000179163 ENSG00000179163 HGNC:4006 GALC gene GALC Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALNS gene GALNS Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000141012 ENSG00000141012 HGNC:4122 GATAD2B gene GATAD2B Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 18, OMIM # 615074 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 31949314 False 3 100;0;0 0.149 True ENSG00000143614 ENSG00000143614 HGNC:30778 GCDH gene GCDH Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000105607 ENSG00000105607 HGNC:4189 GFAP gene GFAP Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000131095 ENSG00000131095 HGNC:4235 GLB1 gene GLB1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLI3 gene GLI3 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNPTAB gene GNPTAB Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000135677 ENSG00000135677 HGNC:4422 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000147257 ENSG00000147257 HGNC:4451 GPRC5B gene GPRC5B Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 37143309 False 3 100;0;0 0.149 True ENSG00000167191 ENSG00000167191 HGNC:13308 GUSB gene GUSB Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000169919 ENSG00000169919 HGNC:4696 HERC1 gene HERC1 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 27108999;26153217;26138117 False 3 100;0;0 0.149 True ENSG00000103657 ENSG00000103657 HGNC:4867 HEXA gene HEXA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000049860 ENSG00000049860 HGNC:4879 HGSNAT gene HGSNAT Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930;MONDO:0009657 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 31536183 False 3 100;0;0 0.149 True ENSG00000165102 ENSG00000165102 HGNC:26527 HRAS gene HRAS Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000174775 ENSG00000174775 HGNC:5173 IDS gene IDS Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000127415 ENSG00000127415 HGNC:5391 IKBKG gene IKBKG Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000073009 ENSG00000269335 HGNC:5961 KDM6B gene KDM6B Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 37196654 False 3 100;0;0 0.149 True ENSG00000132510 ENSG00000132510 HGNC:29012 KIF7 gene KIF7 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000166813 ENSG00000166813 HGNC:30497 KMT2E gene KMT2E Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000005483 ENSG00000005483 HGNC:18541 KPTN gene KPTN Expert Review;Expert Review Green Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 41 (MIM#615637) Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 24239382;32358097;32808430 False 3 100;0;0 0.149 True ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000133703 ENSG00000133703 HGNC:6407 L2HGDH gene L2HGDH Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000087299 ENSG00000087299 HGNC:20499 LEMD3 gene LEMD3 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000174106 ENSG00000174106 HGNC:28887 LRP5 gene LRP5 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000162337 ENSG00000162337 HGNC:6697 LZTR1 gene LZTR1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAN2B1 gene MAN2B1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAP2K1 gene MAP2K1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000126934 ENSG00000126934 HGNC:6842 MCOLN1 gene MCOLN1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000090674 ENSG00000090674 HGNC:13356 MED12 gene MED12 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000184634 ENSG00000184634 HGNC:11957 MLC1 gene MLC1 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 11254442;18757878;16652334 False 3 100;0;0 0.149 True ENSG00000100427 ENSG00000100427 HGNC:17082 MTOR gene MTOR Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000198793 ENSG00000198793 HGNC:3942 MYCN gene MYCN Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polydactyly syndrome, MIM# 620748 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 30573562;37710961 False 3 67;0;33 0.149 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134323 ENSG00000134323 HGNC:7559 MYT1L gene MYT1L Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "intellectual disability;macrocephaly;epilepsy;autism;Mental retardation, autosomal dominant 39, MIM# 616521" Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 (PMID: 32065501) False 3 100;0;0 0.149 True ENSG00000186487 ENSG00000186487 HGNC:7623 NAGA gene NAGA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000108784 ENSG00000108784 HGNC:7632 NEU1 gene NEU1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000204386 ENSG00000204386 HGNC:7758 NF1 gene NF1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFIB gene NFIB Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 30388402 False 3 100;0;0 0.149 True ENSG00000147862 ENSG00000147862 HGNC:7785 NFIX gene NFIX Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000008441 ENSG00000008441 HGNC:7788 NRAS gene NRAS Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000213281 ENSG00000213281 HGNC:7989 NSD1 gene NSD1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000165671 ENSG00000165671 HGNC:14234 OFD1 gene OFD1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000046651 ENSG00000046651 HGNC:2567 OSTM1 gene OSTM1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000081087 ENSG00000081087 HGNC:21652 PAK1 gene PAK1 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM#618158) Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 37820543 False 3 100;0;0 0.149 True ENSG00000149269 ENSG00000149269 HGNC:8590 PDGFRB gene PDGFRB Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000113721 ENSG00000113721 HGNC:8804 PHF6 gene PHF6 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000156531 ENSG00000156531 HGNC:18145 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000105647 ENSG00000105647 HGNC:8980 PLEKHM1 gene PLEKHM1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000225190 ENSG00000225190 HGNC:29017 PPP1CB gene PPP1CB Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000213639 ENSG00000213639 HGNC:9282 PPP2R1A gene PPP2R1A Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 36, MIM#616362;Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 33106617;26168268 False 3 100;0;0 0.149 True Other ENSG00000105568 ENSG00000105568 HGNC:9302 PPP2R5C gene PPP2R5C Expert Review Green;Research Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092);macrocephaly;intellectual disability Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 25972378 False 3 50;50;0 0.149 True ENSG00000078304 ENSG00000078304 HGNC:9311 PPP2R5D gene PPP2R5D Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 1, MIM#616355 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 26168268, 25972378, 25533962;34448180 False 3 100;0;0 0.149 False ENSG00000112640 ENSG00000112640 HGNC:9312 PSAP gene PSAP Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000197746 ENSG00000197746 HGNC:9498 PTCH1 gene PTCH1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTH1R gene PTH1R Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTPN11 gene PTPN11 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAB5C gene RAB5C Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RAB5C-related Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 37552066 False 3 100;0;0 0.149 True ENSG00000108774 ENSG00000108774 HGNC:9785 RAF1 gene RAF1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000132155 ENSG00000132155 HGNC:9829 RASGRP2 gene RASGRP2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000068831 ENSG00000068831 HGNC:9879 RHEB gene RHEB Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000106615 ENSG00000106615 HGNC:10011 RIN2 gene RIN2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000132669 ENSG00000132669 HGNC:18750 RIT1 gene RIT1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000143622 ENSG00000143622 HGNC:10023 RNF125 gene RNF125 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000101695 ENSG00000101695 HGNC:21150 SETD2 gene SETD2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome, MIM#616831 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 29681085 False 3 100;0;0 0.149 True ENSG00000181555 ENSG00000181555 HGNC:18420 SGSH gene SGSH Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHOC2 gene SHOC2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000108061 ENSG00000108061 HGNC:15454 SLC17A5 gene SLC17A5 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC25A1 gene SLC25A1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000100075 ENSG00000100075 HGNC:10979 SNX10 gene SNX10 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000086300 ENSG00000086300 HGNC:14974 SOS1 gene SOS1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000100485 ENSG00000100485 HGNC:11188 SOST gene SOST Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000167941 ENSG00000167941 HGNC:13771 SPRED1 gene SPRED1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome, MIM# 611431 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 17704776;19366998;21548021 False 3 100;0;0 0.149 True ENSG00000166068 ENSG00000166068 HGNC:20249 STRADA gene STRADA Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000266173 ENSG00000266173 HGNC:30172 STT3A gene STT3A Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, AR, OMIM #615596;Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 34653363;23842455;30701557;28424003 False 3 100;0;0 0.149 True Other ENSG00000134910 ENSG00000134910 HGNC:6172 SUFU gene SUFU Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000107882 ENSG00000107882 HGNC:16466 SUZ12 gene SUZ12 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Imagawa-Matsumoto syndrome, MIM# 618786 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 31736240;28229514 False 3 100;0;0 0.149 True ENSG00000178691 ENSG00000178691 HGNC:17101 TAOK1 gene TAOK1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575;Intellectual disability;macrocephaly Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 31230721 False 3 100;0;0 0.149 True ENSG00000160551 ENSG00000160551 HGNC:29259 TBC1D7 gene TBC1D7 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 24515783;23687350;36669495 False 3 100;0;0 0.149 True ENSG00000145979 ENSG00000145979 HGNC:21066 TBCK gene TBCK Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000145348 ENSG00000145348 HGNC:28261 TCF20 gene TCF20 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000100207 ENSG00000100207 HGNC:11631 TCIRG1 gene TCIRG1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000110719 ENSG00000110719 HGNC:11647 TGFB1 gene TGFB1 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000105329 ENSG00000105329 HGNC:11766 TNFRSF11A gene TNFRSF11A Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000141655 ENSG00000141655 HGNC:11908 TNFSF11 gene TNFSF11 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000120659 ENSG00000120659 HGNC:11926 TRAF7 gene TRAF7 Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 32376980 False 3 100;0;0 0.149 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRIO gene TRIO Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061;Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 32109419;28928363 False 3 100;0;0 0.149 True Other ENSG00000038382 ENSG00000038382 HGNC:12303 TYROBP gene TYROBP Expert Review Green;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes Unknown Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 False 3 0;0;0 0.149 False ENSG00000011600 ENSG00000011600 HGNC:12449 VCP gene VCP Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO: 0700092) Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 37883978 False 3 100;0;0 0.149 True ENSG00000165280 ENSG00000165280 HGNC:12666 ZBTB7A gene ZBTB7A Expert list;Expert Review Green Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 34515416;31645653 False 3 100;0;0 0.149 True ENSG00000178951 ENSG00000178951 HGNC:18078 ZDHHC9 gene ZDHHC9 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM# 300799" Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 29681091 False 3 100;0;0 0.149 True ENSG00000188706 ENSG00000188706 HGNC:18475 ZNRF3 gene ZNRF3 Expert Review Green;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 39168120 False 3 100;0;0 0.149 True ENSG00000183579 ENSG00000183579 HGNC:18126 AKT1 gene AKT1 Expert Review Amber;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 6, MIM#615109 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 23246288 False 2 0;100;0 0.149 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 ATXN2L gene ATXN2L Expert Review Amber;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macrocephaly;intellectual disability Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 33283965;33057194 False 2 0;100;0 0.149 True ENSG00000168488 ENSG00000168488 HGNC:31326 CHD1 gene CHD1 Expert Review Amber;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual disability;macrocephaly Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 28866611 False 2 0;100;0 0.149 True Other ENSG00000153922 ENSG00000153922 HGNC:1915 FIBP gene FIBP Expert Review Amber;Victorian Clinical Genetics Services Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thauvin-Robinet-Faivre syndrome, MIM#617107 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 26660953;27183861 False 2 0;100;0 0.149 True ENSG00000172500 ENSG00000172500 HGNC:3705 MAX gene MAX Expert Review Amber;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly-macrocephaly syndrome, MIM# 620712 Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 38141607 False 2 0;100;0 0.149 True ENSG00000125952 ENSG00000125952 HGNC:6913 TET3 gene TET3 Expert Review Amber;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Beck-Fahrner syndrome MIM#618798" Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 PMID: 31928709 False 2 0;100;0 0.149 True ENSG00000187605 ENSG00000187605 HGNC:28313 WDFY3 gene WDFY3 Expert Review Amber;Literature Macrocephaly_Megalencephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with macrocephaly Macrocephaly;HP:0000256; Megalencephaly;HP:0001355 31327001 False 2 0;100;0 0.149 True ENSG00000163625 ENSG00000163625 HGNC:20751