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
EDN1	gene	EDN1	Expert Review Amber;Victorian Clinical Genetics Services	Mandibulofacial Acrofacial dysostosis		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Auriculocondylar syndrome 3, MIM# 615706			Craniofacial dysostosis;HP:0004439	23315542;23913798;24268655		False	2	0;100;0	1.12	True		ENSG00000078401	ENSG00000078401	HGNC:3176													
OTX2	gene	OTX2	Expert Review;Expert Review Amber	Mandibulofacial Acrofacial dysostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Otocephaly-dysgnathia complex			Craniofacial dysostosis;HP:0004439	24167467;25589041;31969185		False	2	0;100;0	1.12	True		ENSG00000165588	ENSG00000165588	HGNC:8522													
RPL11	gene	RPL11	Expert Review Amber;Victorian Clinical Genetics Services	Mandibulofacial Acrofacial dysostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 7, MIM# 612562;MONDO:0012938			Craniofacial dysostosis;HP:0004439	19061985		False	2	0;100;0	1.12	True		ENSG00000142676	ENSG00000142676	HGNC:10301													
RPL5	gene	RPL5	Expert Review Amber;Victorian Clinical Genetics Services	Mandibulofacial Acrofacial dysostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 6, MIM# 612561;MONDO:0012937			Craniofacial dysostosis;HP:0004439	19061985		False	2	0;100;0	1.12	True		ENSG00000122406	ENSG00000122406	HGNC:10360													
RPS26	gene	RPS26	Expert Review Amber;Victorian Clinical Genetics Services	Mandibulofacial Acrofacial dysostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 10, MIM# 613309;MONDO:0013217			Craniofacial dysostosis;HP:0004439	20116044;23812780;24942156		False	2	0;100;0	1.12	True		ENSG00000197728	ENSG00000197728	HGNC:10414													
RPS28	gene	RPS28	Expert Review Amber;Victorian Clinical Genetics Services	Mandibulofacial Acrofacial dysostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164			Craniofacial dysostosis;HP:0004439	24942156		False	2	0;100;0	1.12	True		ENSG00000233927	ENSG00000233927	HGNC:10418													
SHROOM3	gene	SHROOM3	Expert Review Amber;Literature	Mandibulofacial Acrofacial dysostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniofacial microsomia MONDO:0015397			Craniofacial dysostosis;HP:0004439	PMID: 39875538		False	2	0;100;0	1.12	True		ENSG00000138771	ENSG00000138771	HGNC:30422