Macrocephaly_Megalencephaly (Version 0.140)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 147 Entitiess
Green Green List (high evidence)	ABCC9	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 Tags
Green Green List (high evidence)	AKT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) Tags
Green Green List (high evidence)	AMER1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ANKH	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ARSB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags clinical trial treatable
Green Green List (high evidence)	ASPA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ASXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shashi-Pena syndrome, MIM# 617190 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Menkes disease MIM#309400 Tags treatable
Green Green List (high evidence)	AXIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Tags
Green Green List (high evidence)	BRAF	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	BRWD3	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 93 OMIM # 300659 Tags
Green Green List (high evidence)	CA2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CACNA1E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 69 618285 Tags
Green Green List (high evidence)	CBL	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CCND2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CDKN1C	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CHD3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CHD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Sifrim-Hitz-Weiss syndrome (MIM#617159) Tags
Green Green List (high evidence)	CHD8	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CLCN7	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CTR9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), CTR9 related Macrocephaly Tags
Green Green List (high evidence)	CTSA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CTSK	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	D2HGDH	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DICER1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes DICER1 syndrome, MONDO:0017288 Tags
Green Green List (high evidence)	DIS3L2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DNMT3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tatton-Brown-Rahman syndrome, OMIM# 615879 Tags
Green Green List (high evidence)	EED	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	EEF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder macrocephaly hydrocephalus Tags
Green Green List (high evidence)	EZH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Weaver syndrome MIM#277590 Tags
Green Green List (high evidence)	FAM20C	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FERMT3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FUCA1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GALC	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GALNS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GATAD2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 18, OMIM # 615074 Tags
Green Green List (high evidence)	GCDH	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GFAP	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GLB1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GLI3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GNPTAB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GNPTG	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GNS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GPC3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
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)	GUSB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HERC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011 Tags
Green Green List (high evidence)	HEXA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HEXB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Tags
Green Green List (high evidence)	HRAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IDS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IDUA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IKBKG	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KDM6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505 Tags
Green Green List (high evidence)	KIF7	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KMT2E	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KPTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Mental retardation, autosomal recessive 41 (MIM#615637) Tags
Green Green List (high evidence)	KRAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	L2HGDH	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LEMD3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LRP5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LZTR1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MAN2B1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MANBA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MAP2K1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MAP2K2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MCOLN1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MED12	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004 Tags
Green Green List (high evidence)	MTOR	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MYCN	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephaly-polydactyly syndrome, MIM# 620748 Tags
Green Green List (high evidence)	MYT1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual disability macrocephaly epilepsy autism Mental retardation, autosomal dominant 39, MIM# 616521 Tags
Green Green List (high evidence)	NAGA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NAGLU	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NEU1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NF1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NFIB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Tags SV/CNV
Green Green List (high evidence)	NFIX	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NRAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NSD1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	OFD1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	OSTM1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PAK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM#618158) Tags
Green Green List (high evidence)	PDGFRB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PHF6	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PIK3CA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PIK3R2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PLEKHM1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PPP1CB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PPP2R1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Tags
Green Green List (high evidence)	PPP2R5C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Phenotypes Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092) macrocephaly intellectual disability Tags
Green Green List (high evidence)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 35, MIM# 616355 Tags
Green Green List (high evidence)	PSAP	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTCH1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTEN	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTH1R	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTPN11	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services 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)	RAF1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RASGRP2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RHEB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RIN2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RIT1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RNF125	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SETD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome, MIM#616831 Tags
Green Green List (high evidence)	SGSH	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SHOC2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC17A5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC25A1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SNX10	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SOS1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SOS2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SOST	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SPRED1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Legius syndrome, MIM# 611431 Tags
Green Green List (high evidence)	STRADA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	STT3A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Iw, AR, OMIM #615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Tags
Green Green List (high evidence)	SUFU	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SUZ12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Imagawa-Matsumoto syndrome, MIM# 618786 Tags
Green Green List (high evidence)	TAOK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575 Intellectual disability macrocephaly Tags
Green Green List (high evidence)	TBCK	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TCF20	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TCIRG1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TGFB1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TNFRSF11A	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TNFSF11	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TRAF7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Tags
Green Green List (high evidence)	TRIO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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)	TYROBP	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	VCP	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)	ZBTB7A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Tags
Green Green List (high evidence)	ZDHHC9	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, syndromic, Raymond type, MIM# 300799 Tags
Amber Amber List (moderate evidence)	AKT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cowden syndrome 6, MIM#615109 Tags
Amber Amber List (moderate evidence)	ATXN2L	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes macrocephaly intellectual disability Tags
Amber Amber List (moderate evidence)	FIBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Thauvin-Robinet-Faivre syndrome, MIM#617107 Tags
Amber Amber List (moderate evidence)	MAX	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Polydactyly-macrocephaly syndrome, MIM# 620712 Tags
Amber Amber List (moderate evidence)	TBC1D7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000 Tags
Amber Amber List (moderate evidence)	TET3	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Beck-Fahrner syndrome MIM#618798 Tags
Amber Amber List (moderate evidence)	WDFY3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with macrocephaly Tags
Red Red List (low evidence)	A2ML1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Noonan syndrome Tags
Red Red List (low evidence)	HYAL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IX, MIM# 601492 MONDO:0011093 Tags
Red Red List (low evidence)	PTCH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Basal cell nevus syndrome, MIM#109400 Tags
Red Red List (low evidence)	RAB34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RASA2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RNF135	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RRAS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Noonan syndrome, MONDO:0018997 Tags

Macrocephaly_Megalencephaly (Version 0.140)

17 reviewers

147 Entities

52 reviewed, 133 green

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