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 Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia type 3 613456 False 1 0;0;100 0.32 False ENSG00000180318 ENSG00000180318 HGNC:1494 ASXL1 gene ASXL1 Expert Review Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome 605039 False 1 0;0;100 0.32 False ENSG00000171456 ENSG00000171456 HGNC:18318 B9D1 gene B9D1 Expert Review Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9 614209 False 1 0;0;100 0.32 False ENSG00000108641 ENSG00000108641 HGNC:24123 CD96 gene CD96 Expert Review Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted C-syndrome 217750 (opitz trigonocephaly) False 1 0;0;100 0.32 False ENSG00000153283 ENSG00000153283 HGNC:16892 MIR17HG gene MIR17HG Expert Review Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome 2, 614326 False 1 0;0;100 0.32 False ENSG00000215417 ENSG00000215417 HGNC:23564 SLCO5A1 gene SLCO5A1 Expert Review Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mesomelia-synostoses syndrome 600383 False 1 0;0;100 0.32 False ENSG00000137571 ENSG00000137571 HGNC:19046 SULF1 gene SULF1 Expert Review Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mesomelia-synostoses syndrome 600383 False 1 0;0;100 0.32 False ENSG00000137573 ENSG00000137573 HGNC:20391 THPO gene THPO Expert Review Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocythemia 1 187950 (rare presentation with congenital limb defects) False 1 100;0;0 0.32 False ENSG00000090534 ENSG00000090534 HGNC:11795 TWIST2 gene TWIST2 Expert Review Red;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ablepharon-macrostomia syndrome 200110;Barber-Say syndrome 209885 False 1 0;0;100 0.32 False ENSG00000233608 ENSG00000233608 HGNC:20670 ISCA-37406-Loss region NHS GMS;Expert list GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes;610543 10573006;16783566 False 1 0;0;0 0.32 False 16 3725055 3880120 3 80 cnv_loss 16p13.3 region (includes CREBBP) Loss ISCA-37418-Loss region NHS GMS;Expert list GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Potocki-Lupski syndrome;hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders;Smith-Magenis syndrome;Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance;182290;moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems;hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies;Dental abnormalities False 1 0;0;0 0.32 False 17 16853797 20316338 3 80 cnv_loss 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37434-Loss region NHS GMS;Expert list GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown posteriorly rotated, low-set, abnormal ears;brachycephaly;epicanthus;heart defects;pointed chin;deep-set eyes;microcephaly;hypotonia;seizures;poor/absent speech;central nervous system anomalies;large anterior fontanels;microbrachycephaly;mental retardation;growth impairment;large, late-closing anterior fontanel;flat nose;nasal bridge;developmental delay;hearing impairment;distinct dysmorphic features;1p36 deletion syndrome;607872 17918734;22766398;18245432 False 1 0;0;0 0.32 False 1 898703 6229913 3 80 cnv_loss 1p36 terminal region (includes GABRD) Loss ISCA-37441-Loss region NHS GMS;Expert list GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Potocki-Shaffer syndrome;multiple exostoses;biparietal foramina;intellectual disability;strabismus;minor craniofacial anomalies;myopia;ophthalmologic anomalies;601224;mental retardation;enlarged anterior fontanel;genital abnormalities in males;parietal foramina;developmental delay 15852040;16319823;20140962 False 1 0;0;0 0.32 False 11 43873250 46130899 3 80 cnv_loss 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss