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 BRCA2 gene BRCA2 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 11239453;12065746;14670928;28185119 False 3 100;0;0 1.25 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 14630800;16116424;16153896;16116423 False 3 100;0;0 1.25 False ENSG00000136492 ENSG00000136492 HGNC:20473 ERCC4 gene ERCC4 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272 23623386;24027083;23623389 False 3 75;25;0 1.25 False ENSG00000175595 ENSG00000175595 HGNC:3436 ESCO2 gene ESCO2 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Roberts syndrome, 268300; radial aplasia; absence of radii, SC phocomelia syndrome, 269000 False 3 100;0;0 1.25 False ENSG00000171320 ENSG00000171320 HGNC:27230 FANCA gene FANCA Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, 227650 8896563 False 3 100;0;0 1.25 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders 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) VACTERL Association with Hydrocephalus;VACTERL-Hydrocephalus Syndrome;Vacterl Association, X-Linked, With Or Without Hydrocephalus;Fanconi Anemia, Complementation Group B;Fanconi anemia, complementation group B, 300514;Fanconi Anemia, X-Linked;Fanconi Anemia Type B 15502827 False 3 100;0;0 1.25 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, 227645 1574115 False 3 100;0;0 1.25 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2, 227646 11239454 False 3 100;0;0 1.25 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E, 600901 7662964;9382107;9147877;10205272 False 3 100;0;0 1.25 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group F, 603467 10615118 False 3 100;0;0 1.25 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, 614082 9806548 False 3 100;0;0 1.25 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, 609053 17452773;11239453 False 3 100;0;0 1.25 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, 614083 12973351;19405097;12724401;25754594 False 3 100;0;0 1.25 False ENSG00000115392 ENSG00000115392 HGNC:20748 FGF10 gene FGF10 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs; short radius False 3 100;0;0 1.25 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGFR2 gene FGFR2 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs; short radius False 3 100;0;0 1.25 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs; short radius False 3 100;0;0 1.25 False ENSG00000068078 ENSG00000068078 HGNC:3690 FIG4 gene FIG4 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Yunis Varon syndrome OMIM:216340;Yunis-Varon syndrome MONDO:0008995 23623387 False 3 100;0;0 1.25 False ENSG00000112367 ENSG00000112367 HGNC:16873 FLNA gene FLNA Expert Review Green;Other Radial dysplasia Dysmorphic disorders 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) Frontometaphyseal dysplasia 1, OMIM:305620;Melnick-Needles syndrome, OMIM:309350;Otopalatodigital syndrome, type I, OMIM:311300;Otopalatodigital syndrome, type II, OMIM:304120;Terminal osseous dysplasia, OMIM:300244 12612583 False 3 100;0;0 1.25 False ENSG00000196924 ENSG00000196924 HGNC:3754 HDAC8 gene HDAC8 Expert Review Green;Other Radial dysplasia Dysmorphic disorders 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) Cornelia de Lange syndrome 5, 300882 False 3 100;0;0 1.25 False ENSG00000147099 ENSG00000147099 HGNC:13315 HOXA13 gene HOXA13 Expert Review;Expert Review Green Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome, 140000 9020844;10839976 False 3 100;0;0 1.25 False ENSG00000106031 ENSG00000106031 HGNC:5102 KCNH1 gene KCNH1 Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Temple-Baraitser syndrome, 611816;Hypoplasia of terminal phalanges 25420144 False 3 50;0;50 1.25 False ENSG00000143473 ENSG00000143473 HGNC:6250 LMBR1 gene LMBR1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laurin-Sandrow syndrome,135750;Triphalangeal thumb type I,174500;Triphalangeal Thumb-Polysyndactyly Syndrome False 3 100;0;0 1.25 False ENSG00000105983 ENSG00000105983 HGNC:13243 NIPBL gene NIPBL Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange syndrome 1, 122470; CDLS1; Dislocation of the radial head; upper limb anomalies False 3 100;0;0 1.25 False ENSG00000164190 ENSG00000164190 HGNC:28862 PALB2 gene PALB2 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N, 610832 17200672;17200671 False 3 100;0;0 1.25 False ENSG00000083093 ENSG00000083093 HGNC:26144 RBM8A gene RBM8A Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, 274000 22366785 False 3 50;50;0 1.25 False ENSG00000131795 ENSG00000265241 HGNC:9905 RECQL4 gene RECQL4 Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, OMIM:218600;RAPADILINO syndrome, OMIM:266280;Rothmund-Thomson syndrome, type 2, OMIM:268400 False 3 100;0;0 1.25 False ENSG00000160957 ENSG00000160957 HGNC:9949 RPL11 gene RPL11 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 7, 612562;thumb abnormalities;hypoplastic thumb 19061985;19191325 False 3 100;0;0 1.25 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL35A gene RPL35A Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 5, 612528;upper limb malformation 18535205 False 3 100;0;0 1.25 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 6, 612561;thumb abnormalities 19061985;19191325 False 3 100;0;0 1.25 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 9, 613308;upper limb malformation 20116044 False 3 100;0;0 1.25 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 4, 612527 17647292;19061985;19953637;22045982 False 3 100;0;0 1.25 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 1, 105650;Mild radial hypoplasia;Hypoplastic thumbs;Absent thumbs;Triphalangeal thumbs 1746615;9988267;15384984 False 3 100;0;0 1.25 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 3, 610629;upper limb malformation 17186470;2210388;19773262;8647458;19689926 False 3 100;0;0 1.25 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 10, 613309;upper limb malformation 20116044 False 3 100;0;0 1.25 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 8, 612563;upper limb malformation 19061985 False 3 100;0;0 1.25 False ENSG00000171863 ENSG00000171863 HGNC:10440 SALL1 gene SALL1 Expert list;Expert Review Green;Other;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480 False 3 100;0;0 1.25 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, 607323;IVIC syndrome, 147750 False 3 100;0;0 1.25 False ENSG00000101115 ENSG00000101115 HGNC:15924 SF3B4 gene SF3B4 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis 1, Nager type, 154400 False 3 100;0;0 1.25 False ENSG00000143368 ENSG00000143368 HGNC:10771 SHOX gene SHOX Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582;Dorsolateral bowed, short radii;Bowing and curving of radius;Radioulnar shortening False 3 100;0;0 1.25 False ENSG00000185960 ENSG00000185960 HGNC:10853 SLX4 gene SLX4 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, 613951 21240275;21240277 False 3 100;0;0 1.25 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMC1A gene SMC1A Expert Review Green;Other Radial dysplasia Dysmorphic disorders 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) Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370 20358602 False 3 100;0;0 1.25 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange syndrome 3, 610759 25125236 False 3 100;0;0 1.25 False ENSG00000108055 ENSG00000108055 HGNC:2468 TBX3 gene TBX3 Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ulnar-mammary syndrome, 181450; Hypoplastic/absent/deformed radius False 3 100;0;0 1.25 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX5 gene TBX5 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holt-Oram syndrome,142900 8730285 False 3 100;0;0 1.25 False ENSG00000089225 ENSG00000089225 HGNC:11604 UBE2T gene UBE2T Eligibility statement prior genetic testing;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia, Complementation Group T, 616435 26046368;26085575;26119737 False 3 100;0;0 1.25 False ENSG00000077152 ENSG00000077152 HGNC:25009 WNT7A gene WNT7A Expert list;Expert Review Green;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ulna and fibula, absence of, with severe limb deficiency, 276820; Short, bowed radii; absence of a radius; Fuhrmann syndrome, 228930 False 3 100;0;0 1.25 False ENSG00000154764 ENSG00000154764 HGNC:12786 ZIC3 gene ZIC3 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL association, X-linked 314390 20452998;21465648 False 3 0;100;0 1.25 False ENSG00000156925 ENSG00000156925 HGNC:12874 PTEN gene PTEN Expert Review Amber;Other;Radboud University Medical Center, Nijmegen Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VATER association with macrocephaly and ventriculomegaly,276950;VACTERL ASSOCIATION WITH HYDROCEPHALUS ; VACTERL-H 11748304 False 2 50;0;50 1.25 False ENSG00000171862 ENSG00000171862 HGNC:9588 RAD21 gene RAD21 Expert Review Amber;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange syndrome 4, OMIM:614701 22633399;30716475;24378232;27882533;27620904;31334757;32193685 False 2 100;0;0 1.25 False ENSG00000164754 ENSG00000164754 HGNC:9811 RAD51C gene RAD51C Eligibility statement prior genetic testing;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O 613390 20400963;22232082 False 2 67;33;0 1.25 False ENSG00000108384 ENSG00000108384 HGNC:9820 RPL15 gene RPL15 Expert list;Expert Review Amber;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 12; upper limb malformation; Triphalangeal thumbs 19438500;23812780 False 2 67;0;33 1.25 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert list;Expert Review Amber;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 11; Hypoplasia or aplasia of radius, unilateral; Absent thumb, bilateral False 2 50;0;50 1.25 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPS29 gene RPS29 Expert Review Amber;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 13 24829207 False 2 50;50;0 1.25 False ENSG00000213741 ENSG00000213741 HGNC:10419 CREBBP gene CREBBP Expert Review Red;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome 1, 180849 False 1 0;0;0 1.25 False ENSG00000005339 ENSG00000005339 HGNC:2348 DACT1 gene DACT1 Literature;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466; TBS2 28054444;22610794;19701191 False 1 0;0;100 1.25 False ENSG00000165617 ENSG00000165617 HGNC:17748 FANCM gene FANCM Eligibility statement prior genetic testing;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene;19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA;25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia. False 1 50;0;50 1.25 False ENSG00000187790 ENSG00000187790 HGNC:23168 NPM1 gene NPM1 Expert list;Expert Review Red Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown radial ray defects;short stature;nail dsytrophy;bone marrow failure 31570891 False 1 100;0;0 1.25 False ENSG00000181163 ENSG00000181163 HGNC:7910 PITX1 gene PITX1 Expert Review Red;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Liebenberg syndrome; Radially deviated wrists False 1 100;0;0 1.25 False ENSG00000069011 ENSG00000069011 HGNC:9004 PUF60 gene PUF60 Expert Review;Expert Review Red Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, 615583 False 1 100;0;0 1.25 False ENSG00000179950 ENSG00000179950 HGNC:17042 SAMD9 gene SAMD9 Expert Review Red;Other Radial dysplasia Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome 617053 False 1 0;0;100 1.25 False ENSG00000205413 ENSG00000205413 HGNC:1348