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 ADCY6 gene ADCY6 Expert Review Green;Literature Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Lethal congenital contracture syndrome 8, MIM# 616287;MONDO:0014570" Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 24319099;26257172;31846058 False 3 100;0;0 1.5 True ENSG00000174233 ENSG00000174233 HGNC:237 ADGRG6 gene ADGRG6 Expert Review;Expert Review Green Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Lethal congenital contracture syndrome 9, MIM# 616503;MONDO:0014670" Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 26004201;33820833 False 3 100;0;0 1.5 True ENSG00000112414 ENSG00000112414 HGNC:13841 CHRNA1 gene CHRNA1 Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290;MONDO:0009668 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 18252226 False 3 100;0;0 1.5 True ENSG00000138435 ENSG00000138435 HGNC:1955 CHRND gene CHRND Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290;MONDO:0009668 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 29399782;18252226 False 3 100;0;0 1.5 True ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNG gene CHRNG Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Escobar syndrome, MIM# 265000;Multiple pterygium syndrome, lethal type, MIM# 253290;MONDO:0009926;MONDO:0009668 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 16826520;16826531;22167768 False 3 100;0;0 1.5 True ENSG00000196811 ENSG00000196811 HGNC:1967 CNTNAP1 gene CNTNAP1 Expert Review;Expert Review Green Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Lethal congenital contracture syndrome 7, MIM# 616286;MONDO:0014569" Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 24319099;28254648 False 3 100;0;0 1.5 True ENSG00000108797 ENSG00000108797 HGNC:8011 DOK7 gene DOK7 Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 3, MIM# 618389 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 19261599;31880392 False 3 100;0;0 1.5 True ENSG00000175920 ENSG00000175920 HGNC:26594 GLDN gene GLDN Expert Review;Expert Review Green Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Lethal congenital contracture syndrome 11, MIM# 617194;MONDO:0014965" Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 27616481;32812332;28726266 False 3 100;0;0 1.5 True ENSG00000186417 ENSG00000186417 HGNC:29514 GLE1 gene GLE1 Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, MIM# 253310 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 18204449;22357925 False 3 100;0;0 1.5 True ENSG00000119392 ENSG00000119392 HGNC:4315 KLHL40 gene KLHL40 Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, MIM# 615348 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 23746549;24960163;32352246;31908664;27528495 False 3 100;0;0 1.5 True ENSG00000157119 ENSG00000157119 HGNC:30372 MUSK gene MUSK Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 1, MIM# 208150;MONDO:0100101 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 25537362;25612909;8653786;31750350 False 3 100;0;0 1.5 True ENSG00000030304 ENSG00000030304 HGNC:7525 NUP88 gene NUP88 Expert Review Green;Literature Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fetal akinesia deformation sequence 4, MIM# 618393" Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 30543681 False 3 100;0;0 1.5 True ENSG00000108559 ENSG00000108559 HGNC:8067 PIP5K1C gene PIP5K1C Expert Review;Expert Review Green Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 3, MIM# 611369 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 17701898;37451268 False 3 100;0;0 1.5 True ENSG00000186111 ENSG00000186111 HGNC:8996 RAPSN gene RAPSN Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 2, MIM# 618388 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 18179903;18252226;28495245 False 3 100;0;0 1.5 True ENSG00000165917 ENSG00000165917 HGNC:9863 RIPK4 gene RIPK4 Expert Review;Expert Review Green Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650 Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 28940926;22197489;22197488 False 3 100;0;0 1.5 True ENSG00000183421 ENSG00000183421 HGNC:496 RYR1 gene RYR1 Expert Review Green;Victorian Clinical Genetics Services Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia sequence Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 32655342;32097819;30236493 False 3 100;0;0 1.5 True ENSG00000196218 ENSG00000196218 HGNC:10483 TPM2 gene TPM2 Expert Review Green;Literature Multiple pterygium syndrome_Fetal akinesia sequence Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple pterygium syndrome Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989 33558124;32092148 False 3 100;0;0 1.5 True ENSG00000198467 ENSG00000198467 HGNC:12011