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 ALX1 gene ALX1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000180318 ENSG00000180318 HGNC:1494 AMER1 gene AMER1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence 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) Osteopathia striata with cranial sclerosis, MIM# 300373 Pierre Robin sequence;HP:0000201 20209645;19079258 False 3 100;0;0 0.61 True ENSG00000184675 ENSG00000184675 HGNC:26837 ARCN1 gene ARCN1 Expert Review;Expert Review Green Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short stature-micrognathia syndrome, MIM# 617164 Pierre Robin sequence;HP:0000201 35300924 False 3 100;0;0 0.61 True ENSG00000095139 ENSG00000095139 HGNC:649 BMP2 gene BMP2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000125378 ENSG00000125378 HGNC:1071 COG1 gene COG1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000166685 ENSG00000166685 HGNC:6545 COL11A1 gene COL11A1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL9A1 gene COL9A1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000092758 ENSG00000092758 HGNC:2219 DHODH gene DHODH Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Miller syndrome, MIM# 263750 Pierre Robin sequence;HP:0000201 19915526;20220176;33262786;27370710 False 3 100;0;0 0.61 True ENSG00000102967 ENSG00000102967 HGNC:2867 EDNRA gene EDNRA Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis with alopecia, MIM# 616367 Pierre Robin sequence;HP:0000201 25772936;27671791 False 3 100;0;0 0.61 True ENSG00000151617 ENSG00000151617 HGNC:3179 EFNB1 gene EFNB1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000108883 ENSG00000108883 HGNC:30858 EIF4A3 gene EIF4A3 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Robin sequence with cleft mandible and limb anomalies, MIM# 268305;Richieri-Costa-Pereira syndrome Pierre Robin sequence;HP:0000201 24360810 False 3 100;0;0 0.61 True ENSG00000141543 ENSG00000141543 HGNC:18683 FLNA gene FLNA Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000196924 ENSG00000196924 HGNC:3754 FOXC2 gene FOXC2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXE1 gene FOXE1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000178919 ENSG00000178919 HGNC:3806 GNAI3 gene GNAI3 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000065135 ENSG00000065135 HGNC:4387 HOXA2 gene HOXA2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000105996 ENSG00000105996 HGNC:5103 IGF2 gene IGF2 Expert Review Green;Literature Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Silver-Russell syndrome 3 MIM#616489 Pierre Robin sequence;HP:0000201 PMID: 31544945 False 3 100;0;0 0.61 True ENSG00000167244 ENSG00000167244 HGNC:5466 IRF6 gene IRF6 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000117595 ENSG00000117595 HGNC:6121 KCNJ2 gene KCNJ2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000123700 ENSG00000123700 HGNC:6263 LOXL3 gene LOXL3 Expert Review Green;Literature Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, MONDO:0019354, LOXL3-related Pierre Robin sequence;HP:0000201 25663169;26307084;26957899;29802726;30362103;34787502;41052910 False 3 50;50;0 0.61 True ENSG00000115318 ENSG00000115318 HGNC:13869 MED13L gene MED13L Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000123066 ENSG00000123066 HGNC:22962 MN1 gene MN1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate;CEBALID syndrome, MIM# 618774 Pierre Robin sequence;HP:0000201 33351141;31834374;33351070;15870292 False 3 100;0;0 0.61 True ENSG00000169184 ENSG00000169184 HGNC:7180 PGM1 gene PGM1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000079739 ENSG00000079739 HGNC:8905 PLCB4 gene PLCB4 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auriculocondylar syndrome 2A, MIM# 614669;Auriculocondylar syndrome 2B, MIM# 620458 Pierre Robin sequence;HP:0000201 22560091;23315542;33131036;32201334;28328130;27007857;23913798 False 3 100;0;0 0.61 True ENSG00000101333 ENSG00000101333 HGNC:9059 POLR1B gene POLR1B Expert Review Green;Literature Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher-Collins syndrome type 4 Pierre Robin sequence;HP:0000201 31649276 False 3 100;0;0 0.61 True ENSG00000125630 ENSG00000125630 HGNC:20454 RBM10 gene RBM10 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000182872 ENSG00000182872 HGNC:9896 RPL11 gene RPL11 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS28 gene RPS28 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 Pierre Robin sequence;HP:0000201 24942156 False 3 100;0;0 0.61 True ENSG00000233927 ENSG00000233927 HGNC:10418 SATB2 gene SATB2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, MIM# 612313;MONDO:0100147 Pierre Robin sequence;HP:0000201 29023086;28151491;32446642 False 3 100;0;0 0.61 True ENSG00000119042 ENSG00000119042 HGNC:21637 SF3B4 gene SF3B4 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000143368 ENSG00000143368 HGNC:10771 SLC26A2 gene SLC26A2 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000155850 ENSG00000155850 HGNC:10994 SNRPB gene SNRPB Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000125835 ENSG00000125835 HGNC:11153 SPECC1L gene SPECC1L Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000100014 ENSG00000100014 HGNC:29022 TBX1 gene TBX1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX22 gene TBX22 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000122145 ENSG00000122145 HGNC:11600 TCOF1 gene TCOF1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1, MIM# 154500 Pierre Robin sequence;HP:0000201 12444270;15150774;21951868 False 3 100;0;0 0.61 True ENSG00000070814 ENSG00000070814 HGNC:11654 TGDS gene TGDS Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000088451 ENSG00000088451 HGNC:20324 TMCO1 gene TMCO1 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000143183 ENSG00000143183 HGNC:18188 TXNL4A gene TXNL4A Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000141759 ENSG00000141759 HGNC:30551 ZSWIM6 gene ZSWIM6 Expert Review Green;Victorian Clinical Genetics Services Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes Unknown Pierre Robin sequence;HP:0000201 False 3 0;0;0 0.61 False ENSG00000130449 ENSG00000130449 HGNC:29316 EIF4A3_RCPS_complex str EIF4A3 Expert Review Green;Literature Pierre Robin Sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Robin sequence with cleft mandible and limb anomalies MIM#268305;Richieri-Costa-Pereira syndrome Pierre Robin sequence;HP:0000201 24360810;29112243 False 3 100;0;0 0.61 True ENSG00000141543 ENSG00000141543 HGNC:18683 17 78120803 78120938 80147004 80147139 TCGGCAGCGGCGCAGCGAGG 12 14