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 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D1, MIM# 605724 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group J, MIM# 609054 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000136492 ENSG00000136492 HGNC:20473 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi aanemia, complementation group Q, MIM# 615272;MONDO:0014108 Abnormality of radial ray;HP:0410049 23623386;8797827;23623389;17183314;29105242 False 3 100;0;0 1.15 True ENSG00000175595 ENSG00000175595 HGNC:3436 ESCO2 gene ESCO2 Expert Review Green;NHS GMS Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Roberts syndrome 268300;SC phocomelia syndrome 269000;Juberg-Hayward syndrome, MIM# 216100 Abnormality of radial ray;HP:0410049 19574259;16380922;32977150 False 3 100;0;0 1.15 True ENSG00000171320 ENSG00000171320 HGNC:27230 FANCA gene FANCA Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 Abnormality of radial ray;HP:0410049 10094191 False 3 100;0;0 1.15 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514;MONDO:0010351 Abnormality of radial ray;HP:0410049 15502827 False 3 100;0;0 1.15 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group C, MIM# 227645;MONDO:0009213 Abnormality of radial ray;HP:0410049 31044565;30792206;28717661 False 3 100;0;0 1.15 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646;MONDO:0009214 Abnormality of radial ray;HP:0410049 17436244 False 3 100;0;0 1.15 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM# 600901;MONDO:0010953 Abnormality of radial ray;HP:0410049 11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 1.15 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F 603467;MONDO:0011325 Abnormality of radial ray;HP:0410049 10615118;31288759 False 3 100;0;0 1.15 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM# 614082;MONDO:0013565 Abnormality of radial ray;HP:0410049 9806548;12552564 False 3 100;0;0 1.15 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, MIM# 609053;MONDO:0012186 Abnormality of radial ray;HP:0410049 17452773 False 3 100;0;0 1.15 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, MIM# 614083;MONDO:0013566 Abnormality of radial ray;HP:0410049 19405097;25754594;33394227;33224012 False 3 100;0;0 1.15 True ENSG00000115392 ENSG00000115392 HGNC:20748 FGF10 gene FGF10 Expert Review Green;NHS GMS Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lacrimoauriculodentodigital syndrome (149730);Aplasia of lacrimal and salivary glands (180920) Abnormality of radial ray;HP:0410049 PMID: 15654336;16501574;16630169;17682060 False 3 100;0;0 1.15 True ENSG00000070193 ENSG00000070193 HGNC:3666 FGFR2 gene FGFR2 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000068078 ENSG00000068078 HGNC:3690 FIG4 gene FIG4 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Yunis-Varon syndrome, MIM# 216340" Abnormality of radial ray;HP:0410049 23623387 False 3 100;0;0 1.15 True ENSG00000112367 ENSG00000112367 HGNC:16873 FLNA gene FLNA Expert list;Expert Review Green Radial Ray Abnormalities 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) Melnick-Needles syndrome, 309350 Abnormality of radial ray;HP:0410049 12612583 False 3 100;0;0 1.15 True ENSG00000196924 ENSG00000196924 HGNC:3754 HDAC8 gene HDAC8 Expert list;Expert Review Green Radial Ray Abnormalities 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, MIM# 300882" Abnormality of radial ray;HP:0410049 30614194;24403048 False 3 100;0;0 1.15 True ENSG00000147099 ENSG00000147099 HGNC:13315 HOXA13 gene HOXA13 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome, MIM# 140000 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000106031 ENSG00000106031 HGNC:5102 LEF1 gene LEF1 Expert Review Green;Literature Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, LEF1-related Abnormality of radial ray;HP:0410049 35583550 False 3 100;0;0 1.15 True ENSG00000138795 ENSG00000138795 HGNC:6551 LMBR1 gene LMBR1 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Laurin-Sandrow syndrome, MIM# 135750" Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000105983 ENSG00000105983 HGNC:13243 MECOM gene MECOM Expert Review Green;Literature Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738;Radioulnar synostosis without hematological aberration, no OMIM # Abnormality of radial ray;HP:0410049 PMID: 35219593, 26581901, 29519864 False 3 100;0;0 1.15 True ENSG00000085276 ENSG00000085276 HGNC:3498 NIPBL gene NIPBL Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cornelia de Lange syndrome 1, MIM# 122470" Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000164190 ENSG00000164190 HGNC:28862 NPM1 gene NPM1 Expert Review Green;Literature Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown radial ray defects;short stature;nail dsytrophy;bone marrow failure Abnormality of radial ray;HP:0410049 31570891 False 3 100;0;0 1.15 True ENSG00000181163 ENSG00000181163 HGNC:7910 PALB2 gene PALB2 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group N, MIM# 610832 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000083093 ENSG00000083093 HGNC:26144 RAB34 gene RAB34 Expert Review Green;Literature Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 Abnormality of radial ray;HP:0410049 PMID: 37384395 False 3 100;0;0 1.15 True ENSG00000109113 ENSG00000109113 HGNC:16519 RAD21 gene RAD21 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4, MIM# 614701 Abnormality of radial ray;HP:0410049 32193685 False 3 100;0;0 1.15 True ENSG00000164754 ENSG00000164754 HGNC:9811 RAD51C gene RAD51C Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, MIM# 613390 Abnormality of radial ray;HP:0410049 29278735;20400963 False 3 100;0;0 1.15 True ENSG00000108384 ENSG00000108384 HGNC:9820 RBM8A gene RBM8A Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, MIM# 274000 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000131795 ENSG00000265241 HGNC:9905 RECQL4 gene RECQL4 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Baller-Gerold syndrome, MIM# 218600;RAPADILINO syndrome, MIM# 266280;Rothmund-Thomson syndrome, type 2,MIM# 268400" Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000160957 ENSG00000160957 HGNC:9949 RPL11 gene RPL11 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 7, MIM# 612562;MONDO:0012938 Abnormality of radial ray;HP:0410049 19061985 False 3 100;0;0 1.15 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 12, MIM# 615550" Abnormality of radial ray;HP:0410049 23812780;29599205 False 3 100;0;0 1.15 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 11, MIM# 614900 Abnormality of radial ray;HP:0410049 22431104;39268718 False 3 50;0;50 1.15 True ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 5, MIM# 612528;MONDO:0012925 Abnormality of radial ray;HP:0410049 18535205;32241839 False 3 100;0;0 1.15 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 6, MIM# 612561;MONDO:0012937 Abnormality of radial ray;HP:0410049 19061985 False 3 100;0;0 1.15 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 9, MIM# 613308;MONDO:0013216 Abnormality of radial ray;HP:0410049 20116044;23718193;25946618 False 3 100;0;0 1.15 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 4, MIM# 612527;MONDO:0012924 Abnormality of radial ray;HP:0410049 17647292;19061985;23812780;23718193 False 3 100;0;0 1.15 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 1, MIM# 105650;MONDO:0007110 Abnormality of radial ray;HP:0410049 9988267;10590074 False 3 100;0;0 1.15 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-blackfan anaemia 3, MIM# 610629;MONDO:0012529 Abnormality of radial ray;HP:0410049 17186470;23812780;25946618 False 3 100;0;0 1.15 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 10, MIM# 613309;MONDO:0013217 Abnormality of radial ray;HP:0410049 20116044;23812780;24942156 False 3 100;0;0 1.15 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 8, MIM# 612563;MONDO:0012939 Abnormality of radial ray;HP:0410049 19061985;23718193;27882484;32772263 False 3 100;0;0 1.15 True ENSG00000171863 ENSG00000171863 HGNC:10440 SALL1 gene SALL1 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 1, MIM#107480;MONDO:0054581 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, MIM# 607323;MONDO:0011812;IVIC syndrome, MIM# 147750;MONDO:0007836 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000101115 ENSG00000101115 HGNC:15924 SF3B4 gene SF3B4 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Acrofacial dysostosis 1, Nager type, MIM# 154400" Abnormality of radial ray;HP:0410049 22541558 False 3 100;0;0 1.15 True ENSG00000143368 ENSG00000143368 HGNC:10771 SHOX gene SHOX Expert list;Expert Review Green Radial Ray Abnormalities 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) Leri-Weill dyschondrosteosis, MIM# 127300;Langer mesomelic dysplasia, MIM#249700 Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000185960 ENSG00000185960 HGNC:10853 SLX4 gene SLX4 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group P, MIM# 613951;MONDO:0013499 Abnormality of radial ray;HP:0410049 21240275;21240277 False 3 100;0;0 1.15 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMC1A gene SMC1A Expert list;Expert Review Green Radial Ray Abnormalities 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, MIM# 300590" Abnormality of radial ray;HP:0410049 False 3 100;0;0 1.15 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cornelia de Lange syndrome 3, MIM# 610759" Abnormality of radial ray;HP:0410049 25125236;25655089 False 3 100;0;0 1.15 True ENSG00000108055 ENSG00000108055 HGNC:2468 TBX3 gene TBX3 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ulnar-mammary syndrome, MIM# 181450;MONDO:0008411 Abnormality of radial ray;HP:0410049 9207801;19938096;28145909 False 3 100;0;0 1.15 True ENSG00000135111 ENSG00000135111 HGNC:11602 TBX5 gene TBX5 Expert Review Green;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, MIM# 142900 Abnormality of radial ray;HP:0410049 10077612;31373354 False 3 100;0;0 1.15 True ENSG00000089225 ENSG00000089225 HGNC:11604 UBE2T gene UBE2T Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group T, MIM# 616435" Abnormality of radial ray;HP:0410049 26046368;26085575;26119737 False 3 100;0;0 1.15 True ENSG00000077152 ENSG00000077152 HGNC:25009 WNT7A gene WNT7A Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fuhrmann syndrome, MIM# 228930;Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820" Abnormality of radial ray;HP:0410049 21344627;20949531;16826533 False 3 100;0;0 1.15 True ENSG00000154764 ENSG00000154764 HGNC:12786 ZIC3 gene ZIC3 Expert list;Expert Review Green Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "VACTERL association, X-linked 314390" Abnormality of radial ray;HP:0410049 21465648;20452998;26294094 False 3 100;0;0 1.15 True ENSG00000156925 ENSG00000156925 HGNC:12874 RAD51 gene RAD51 Expert Review;Expert Review Amber Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi anaemia, complementation group R, MIM# 617244 Abnormality of radial ray;HP:0410049 26253028;26681308;30907510 False 2 0;100;0 1.15 True ENSG00000051180 ENSG00000051180 HGNC:9817 RFWD3 gene RFWD3 Expert Review Amber;Literature Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia MONDO:0019391 Abnormality of radial ray;HP:0410049 28691929;38058754 False 2 0;100;0 1.15 True ENSG00000168411 ENSG00000168411 HGNC:25539 RPS29 gene RPS29 Expert Review Amber;Victorian Clinical Genetics Services Radial Ray Abnormalities Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 13, MIM# 615909 Abnormality of radial ray;HP:0410049 24829207 False 2 0;100;0 1.15 True ENSG00000213741 ENSG00000213741 HGNC:10419