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 AIP gene AIP Expert Review Red;UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromegaly; Growth hormone secreting pituitary adenoma False 1 100;0;0 0.58 True ENSG00000110711 ENSG00000110711 HGNC:358 ARSB gene ARSB Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy); arylsulfatase B deficiency False 1 100;0;0 0.58 False ENSG00000113273 ENSG00000113273 HGNC:714 CDKN1C gene CDKN1C Expert Review Red;UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) False 1 100;0;0 0.58 True ENSG00000129757 ENSG00000129757 HGNC:1786 CTSA gene CTSA UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galactosialidosis False 1 100;0;0 0.58 False ENSG00000064601 ENSG00000064601 HGNC:9251 D2HGDH gene D2HGDH Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria False 1 0;0;100 0.58 False ENSG00000180902 ENSG00000180902 HGNC:28358 EXT2 gene EXT2 Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Seizures, scoliosis and macrocephaly syndrome, 616682 26246518 False 1 0;0;100 0.58 True ENSG00000151348 ENSG00000151348 HGNC:3513 FBXO31 gene FBXO31 Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Autosomal recessive mental retardation 45, 615979 24623383 False 1 0;0;100 0.58 True ENSG00000103264 ENSG00000103264 HGNC:16510 GALNS gene GALNS UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysachharidosis IVA (Morquio) False 1 100;0;0 0.58 False ENSG00000141012 ENSG00000141012 HGNC:4122 GNE gene GNE Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sialuria False 1 0;0;100 0.58 True ENSG00000159921 ENSG00000159921 HGNC:23657 GNPTAB gene GNPTAB UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta False 1 100;0;0 0.58 False ENSG00000111670 ENSG00000111670 HGNC:29670 HPGD gene HPGD Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Primary hypertrophic osteoarthropathy autosomal recessive 1, 259100 18500342 False 1 100;0;0 0.58 True ENSG00000164120 ENSG00000164120 HGNC:5154 INSR gene INSR Expert Review Red;UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Rabson-Mendenhall syndrome 262190, Donohue syndrome 246200 9449692 False 1 100;0;0 0.58 True ENSG00000171105 ENSG00000171105 HGNC:6091 LAMTOR2 gene LAMTOR2 Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal False 1 0;100;0 0.58 True ENSG00000116586 ENSG00000116586 HGNC:29796 LTBP4 gene LTBP4 Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Autosomal recessive cutis laxa, Type 1C False 1 100;0;0 0.58 True ENSG00000090006 ENSG00000090006 HGNC:6717 MAGEL2 gene MAGEL2 Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schaaf Yang False 1 0;0;100 0.58 True ENSG00000254585 ENSG00000254585 HGNC:6814 MMP14 gene MMP14 Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Winchester syndrome 27790 22922033 False 1 0;0;100 0.58 True ENSG00000157227 ENSG00000157227 HGNC:7160 MMP2 gene MMP2 Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal False 1 100;0;0 0.58 False ENSG00000087245 ENSG00000087245 HGNC:7166 NOTCH2 gene NOTCH2 UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hajdu Cheney False 1 100;0;0 0.58 False ENSG00000134250 ENSG00000134250 HGNC:7882 RBMX gene RBMX Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Shashi X-linke mental retardation False 1 0;0;100 0.58 True ENSG00000147274 ENSG00000147274 HGNC:9910 RET gene RET Expert Review Red;UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia IIB False 1 100;0;0 0.58 True ENSG00000165731 ENSG00000165731 HGNC:9967 RIN2 gene RIN2 Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MACS syndrome False 1 100;0;0 0.58 True ENSG00000132669 ENSG00000132669 HGNC:18750 SH3PXD2B gene SH3PXD2B Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Frank-Ter Haar syndrome 249420 20137777 False 1 100;0;0 0.58 True ENSG00000174705 ENSG00000174705 HGNC:29242 SLCO2A1 gene SLCO2A1 Expert Review Red;Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypertrophic osteoarthropathy False 1 100;0;0 0.58 True ENSG00000174640 ENSG00000174640 HGNC:10955 SNX14 gene SNX14 Literature Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal False 1 100;0;0 0.58 False ENSG00000135317 ENSG00000135317 HGNC:14977 STAT3 gene STAT3 Expert Review Red;UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Job Hyper IgE recurrent infection False 1 100;0;0 0.58 True ENSG00000168610 ENSG00000168610 HGNC:11364 TBC1D24 gene TBC1D24 Expert list;Expert Review Red Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 0.58 True ENSG00000162065 ENSG00000162065 HGNC:29203 THRA gene THRA Expert Review Red;UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypothyroidism False 1 100;0;0 0.58 True Other - please provide details in the comments ENSG00000126351 ENSG00000126351 HGNC:11796 WDR81 gene WDR81 Expert Review Red;UKGTN Coarse facial features including Coffin-Siris-like disorders Other dysmorphic syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia with mental retardation False 1 0;0;100 0.58 True ENSG00000167716 ENSG00000167716 HGNC:26600