PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
404 actions
Radial Ray Abnormalities v1.15 RFWD3 Bryony Thompson Marked gene: RFWD3 as ready
Radial Ray Abnormalities v1.15 RFWD3 Bryony Thompson Gene: rfwd3 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v1.15 RFWD3 Bryony Thompson Classified gene: RFWD3 as Amber List (moderate evidence)
Radial Ray Abnormalities v1.15 RFWD3 Bryony Thompson Gene: rfwd3 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v1.14 RFWD3 Bryony Thompson gene: RFWD3 was added
gene: RFWD3 was added to Radial Ray Abnormalities. Sources: Literature
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929; 38058754
Phenotypes for gene: RFWD3 were set to Fanconi anemia MONDO:0019391
Review for gene: RFWD3 was set to AMBER
Added comment: Only 2 families reported, with radial ray defects as part of the phenotype.
Sources: Literature
Radial Ray Abnormalities v1.13 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from Diamond-Blackfan anemia 11, MIM# 614900 to Diamond-Blackfan anaemia 11, MIM# 614900
Radial Ray Abnormalities v1.12 RPL26 Zornitza Stark Publications for gene: RPL26 were set to 22431104
Radial Ray Abnormalities v1.11 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Radial Ray Abnormalities v1.11 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.10 RPL26 Sangavi Sivagnanasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v1.10 RAB34 Zornitza Stark Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718
Radial Ray Abnormalities v1.9 RAB34 Elena Savva Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Radial Ray Abnormalities v1.8 RAB34 Elena Savva Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Radial Ray Abnormalities v1.7 RAB34 Elena Savva Marked gene: RAB34 as ready
Radial Ray Abnormalities v1.7 RAB34 Elena Savva Gene: rab34 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.7 RAB34 Elena Savva Classified gene: RAB34 as Green List (high evidence)
Radial Ray Abnormalities v1.7 RAB34 Elena Savva Gene: rab34 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.6 RAB34 Elena Savva Classified gene: RAB34 as Green List (high evidence)
Radial Ray Abnormalities v1.6 RAB34 Elena Savva Gene: rab34 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.5 RAB34 Sarah Pantaleo gene: RAB34 was added
gene: RAB34 was added to Radial Ray Abnormalities. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37384395
Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies
Penetrance for gene: RAB34 were set to Complete
Review for gene: RAB34 was set to GREEN
Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS.

Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher).

Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects.

RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function.

Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands.

In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth.

All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities.

All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance.
Sources: Literature
Radial Ray Abnormalities v1.5 Zornitza Stark HPO terms changed from to Abnormality of radial ray, HP:0410049
List of related panels changed from to Abnormality of radial ray; HP:0410049
Radial Ray Abnormalities v1.4 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Radial Ray Abnormalities v1.4 LEF1 Zornitza Stark Marked gene: LEF1 as ready
Radial Ray Abnormalities v1.4 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.4 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Radial Ray Abnormalities v1.4 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.3 LEF1 Zornitza Stark gene: LEF1 was added
gene: LEF1 was added to Radial Ray Abnormalities. Sources: Literature
Mode of inheritance for gene: LEF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LEF1 were set to 35583550
Phenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related
Review for gene: LEF1 was set to GREEN
Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.
Sources: Literature
Radial Ray Abnormalities v1.2 MECOM Zornitza Stark Marked gene: MECOM as ready
Radial Ray Abnormalities v1.2 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.2 MECOM Chirag Patel Classified gene: MECOM as Green List (high evidence)
Radial Ray Abnormalities v1.2 MECOM Chirag Patel Gene: mecom has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.2 MECOM Chirag Patel Classified gene: MECOM as Green List (high evidence)
Radial Ray Abnormalities v1.2 MECOM Chirag Patel Gene: mecom has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.1 MECOM Chirag Patel gene: MECOM was added
gene: MECOM was added to Radial Ray Abnormalities. Sources: Literature
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MECOM were set to PMID: 35219593, 26581901, 29519864
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738; Radioulnar synostosis without hematological aberration, no OMIM #
Review for gene: MECOM was set to GREEN
Added comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
-Multiple affected families reported

Radioulnar synostosis (RUS) without hematological aberration
-8 families with RUS and no identifiable hematological abnormalities
-WES identified unique missense variants in MECOM
-6 families had variants in residue R781, 2 other variants included I783T and Q777E. All variants clustered within the ninth zinc finger motif of EVI1.
-Functional experiments showed that MECOM R781C led to alterations in TGF-β–mediated transcriptional responses.
Sources: Literature
Radial Ray Abnormalities v1.0 Zornitza Stark promoted panel to version 1.0
Radial Ray Abnormalities v0.150 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Radial Ray Abnormalities v0.150 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.150 FGFR2 Zornitza Stark Classified gene: FGFR2 as Green List (high evidence)
Radial Ray Abnormalities v0.150 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.149 TBX3 Zornitza Stark Marked gene: TBX3 as ready
Radial Ray Abnormalities v0.149 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.149 TBX3 Zornitza Stark Phenotypes for gene: TBX3 were changed from to Ulnar-mammary syndrome, MIM# 181450; MONDO:0008411
Radial Ray Abnormalities v0.148 TBX3 Zornitza Stark Publications for gene: TBX3 were set to
Radial Ray Abnormalities v0.147 TBX3 Zornitza Stark Mode of inheritance for gene: TBX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.146 TBX3 Zornitza Stark reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207801, 19938096, 28145909; Phenotypes: Ulnar-mammary syndrome, MIM# 181450, MONDO:0008411; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.146 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Radial Ray Abnormalities v0.146 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.146 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anaemia, complementation group P, MIM# 613951; MONDO:0013499
Radial Ray Abnormalities v0.145 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Radial Ray Abnormalities v0.144 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.143 SLX4 Zornitza Stark edited their review of gene: SLX4: Changed phenotypes: Fanconi anaemia, complementation group P, MIM# 613951, MONDO:0013499
Radial Ray Abnormalities v0.143 SLX4 Zornitza Stark edited their review of gene: SLX4: Changed phenotypes: Fanconi anaemia, complementation group P, MIM# 613951
Radial Ray Abnormalities v0.143 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Radial Ray Abnormalities v0.143 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.143 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to Duane-radial ray syndrome, MIM# 607323; MONDO:0011812; IVIC syndrome, MIM# 147750; MONDO:0007836
Radial Ray Abnormalities v0.142 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.141 SALL4 Zornitza Stark reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323, MONDO:0011812, IVIC syndrome, MIM# 147750, MONDO:0007836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.141 SALL1 Zornitza Stark Marked gene: SALL1 as ready
Radial Ray Abnormalities v0.141 SALL1 Zornitza Stark Gene: sall1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.141 SALL1 Zornitza Stark Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480; MONDO:0054581
Radial Ray Abnormalities v0.140 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.139 SALL1 Zornitza Stark edited their review of gene: SALL1: Added comment: Well established gene-disease association.; Changed phenotypes: Townes-Brocks syndrome 1, MIM#107480, MONDO:0054581
Radial Ray Abnormalities v0.139 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, 107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.139 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Radial Ray Abnormalities v0.139 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.139 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anaemia 8, MIM# 612563; MONDO:0012939
Radial Ray Abnormalities v0.138 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Radial Ray Abnormalities v0.137 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.136 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Radial Ray Abnormalities v0.136 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.136 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anaemia 10, MIM# 613309; MONDO:0013217
Radial Ray Abnormalities v0.135 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Radial Ray Abnormalities v0.134 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.133 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Radial Ray Abnormalities v0.133 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.133 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anaemia 3, MIM# 610629; MONDO:0012529
Radial Ray Abnormalities v0.132 RPS24 Zornitza Stark Publications for gene: RPS24 were set to
Radial Ray Abnormalities v0.131 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.130 RPS24 Zornitza Stark changed review comment from: At least 3 unrelated individuals reported.; to: At least 3 unrelated individuals reported. Thumb abnormalities are a feature.
Radial Ray Abnormalities v0.130 RPS24 Zornitza Stark edited their review of gene: RPS24: Changed phenotypes: Diamond-blackfan anaemia 3, MIM# 610629, MONDO:0012529
Radial Ray Abnormalities v0.130 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110 to Diamond-Blackfan anaemia 1, MIM# 105650; MONDO:0007110
Radial Ray Abnormalities v0.129 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, MIM# 612527 to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924
Radial Ray Abnormalities v0.128 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Radial Ray Abnormalities v0.128 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.128 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anemia 9, MIM# 613308; MONDO:0013216
Radial Ray Abnormalities v0.127 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Radial Ray Abnormalities v0.126 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.125 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Radial Ray Abnormalities v0.125 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.125 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anaemia 6, MIM# 612561; MONDO:0012937
Radial Ray Abnormalities v0.124 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Radial Ray Abnormalities v0.123 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.122 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Radial Ray Abnormalities v0.122 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.122 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anaemia 5, MIM# 612528 to Diamond-Blackfan anaemia 5, MIM# 612528; MONDO:0012925
Radial Ray Abnormalities v0.121 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anaemia 5, MIM# 612528
Radial Ray Abnormalities v0.120 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Radial Ray Abnormalities v0.119 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.118 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Radial Ray Abnormalities v0.118 RPL11 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, thumb abnormalities are a feature.
Radial Ray Abnormalities v0.118 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Radial Ray Abnormalities v0.118 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.118 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anaemia 7, MIM# 612562; MONDO:0012938
Radial Ray Abnormalities v0.117 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Radial Ray Abnormalities v0.116 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.115 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Radial Ray Abnormalities v0.115 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.115 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832
Radial Ray Abnormalities v0.114 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.114 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.113 FANCI Zornitza Stark Marked gene: FANCI as ready
Radial Ray Abnormalities v0.113 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.113 FANCL Zornitza Stark Marked gene: FANCL as ready
Radial Ray Abnormalities v0.113 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.113 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Radial Ray Abnormalities v0.113 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Radial Ray Abnormalities v0.112 FANCL Zornitza Stark Publications for gene: FANCL were set to
Radial Ray Abnormalities v0.111 FANCI Zornitza Stark Publications for gene: FANCI were set to
Radial Ray Abnormalities v0.110 FANCL Zornitza Stark Mode of inheritance for gene: FANCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.110 FANCI Zornitza Stark Mode of inheritance for gene: FANCI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.109 FANCF Zornitza Stark Marked gene: FANCF as ready
Radial Ray Abnormalities v0.109 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.109 FANCG Zornitza Stark Marked gene: FANCG as ready
Radial Ray Abnormalities v0.109 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.109 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Radial Ray Abnormalities v0.108 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Radial Ray Abnormalities v0.108 FANCG Zornitza Stark Publications for gene: FANCG were set to
Radial Ray Abnormalities v0.107 FANCF Zornitza Stark Publications for gene: FANCF were set to
Radial Ray Abnormalities v0.107 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.106 FANCF Zornitza Stark Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.105 FANCE Zornitza Stark Marked gene: FANCE as ready
Radial Ray Abnormalities v0.105 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.105 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Radial Ray Abnormalities v0.104 FANCE Zornitza Stark Publications for gene: FANCE were set to
Radial Ray Abnormalities v0.103 FANCE Zornitza Stark Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.102 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Radial Ray Abnormalities v0.102 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.102 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, complementation group D2, MIM# 227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Radial Ray Abnormalities v0.101 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646
Radial Ray Abnormalities v0.100 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Radial Ray Abnormalities v0.99 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.98 FANCC Zornitza Stark Marked gene: FANCC as ready
Radial Ray Abnormalities v0.98 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.98 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from to Fanconi anaemia, complementation group C, MIM# 227645; MONDO:0009213
Radial Ray Abnormalities v0.97 FANCC Zornitza Stark Publications for gene: FANCC were set to
Radial Ray Abnormalities v0.96 FANCC Zornitza Stark Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.95 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Radial Ray Abnormalities v0.95 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.95 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi aanemia, complementation group Q, MIM# 615272; MONDO:0014108
Radial Ray Abnormalities v0.94 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Radial Ray Abnormalities v0.93 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.92 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi aanemia, complementation group Q, MIM# 615272, MONDO:0014108
Radial Ray Abnormalities v0.92 ERCC4 Zornitza Stark Deleted their comment
Radial Ray Abnormalities v0.92 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Added comment: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects.; Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108
Radial Ray Abnormalities v0.91 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Radial Ray Abnormalities v0.91 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.91 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Radial Ray Abnormalities v0.90 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.89 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Radial Ray Abnormalities v0.89 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.89 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Fanconi anaemia, complementation group D1, MIM# 605724
Radial Ray Abnormalities v0.88 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.87 BRCA2 Zornitza Stark edited their review of gene: BRCA2: Changed phenotypes: Fanconi anaemia, complementation group D1, MIM# 605724
Radial Ray Abnormalities v0.86 RAD51 Zornitza Stark Marked gene: RAD51 as ready
Radial Ray Abnormalities v0.86 RAD51 Zornitza Stark Gene: rad51 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.86 RAD51 Zornitza Stark Classified gene: RAD51 as Amber List (moderate evidence)
Radial Ray Abnormalities v0.86 RAD51 Zornitza Stark Gene: rad51 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.85 RAD51 Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo variants in this gene and FA phenotype.
Sources: Expert Review; to: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. However, only one had radial ray abnormalities.
Sources: Expert Review
Radial Ray Abnormalities v0.85 RAD51 Zornitza Stark edited their review of gene: RAD51: Changed rating: AMBER
Radial Ray Abnormalities v0.85 RAD51 Zornitza Stark gene: RAD51 was added
gene: RAD51 was added to Radial Ray Abnormalities. Sources: Expert Review
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD51 were set to 26253028; 26681308; 30907510
Phenotypes for gene: RAD51 were set to Fanconi anaemia, complementation group R, MIM# 617244
Review for gene: RAD51 was set to GREEN
Added comment: Three unrelated individuals reported with de novo variants in this gene and FA phenotype.
Sources: Expert Review
Radial Ray Abnormalities v0.84 FANCB Zornitza Stark Marked gene: FANCB as ready
Radial Ray Abnormalities v0.84 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.84 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351
Radial Ray Abnormalities v0.83 FANCB Zornitza Stark Publications for gene: FANCB were set to
Radial Ray Abnormalities v0.82 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Radial Ray Abnormalities v0.81 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514, MONDO:0010351; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Radial Ray Abnormalities v0.81 FANCA Zornitza Stark Marked gene: FANCA as ready
Radial Ray Abnormalities v0.81 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.81 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Radial Ray Abnormalities v0.80 FANCA Zornitza Stark Publications for gene: FANCA were set to
Radial Ray Abnormalities v0.79 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.78 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.78 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from Roberts syndrome 268300; SC phocomelia syndrome 269000 to Roberts syndrome 268300; SC phocomelia syndrome 269000; Juberg-Hayward syndrome, MIM# 216100
Radial Ray Abnormalities v0.77 ESCO2 Zornitza Stark Publications for gene: ESCO2 were set to 19574259; 16380922
Radial Ray Abnormalities v0.76 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.76 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Radial Ray Abnormalities v0.76 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.76 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
Radial Ray Abnormalities v0.75 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Radial Ray Abnormalities v0.74 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.73 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 9988267, 10590074; Phenotypes: Diamond-Blackfan anemia 1, MIM# 105650, MONDO:0007110; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Radial Ray Abnormalities v0.72 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Radial Ray Abnormalities v0.71 RPS17 Zornitza Stark Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.70 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.70 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Radial Ray Abnormalities v0.69 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
Radial Ray Abnormalities v0.69 FANCM Zornitza Stark Marked gene: FANCM as ready
Radial Ray Abnormalities v0.69 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.69 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia
Radial Ray Abnormalities v0.68 FANCM Zornitza Stark Publications for gene: FANCM were set to
Radial Ray Abnormalities v0.67 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.66 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Radial Ray Abnormalities v0.66 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.65 FANCM Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.65 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR2 were set to LADD syndrome, MIM#149730
Review for gene: FGFR2 was set to GREEN
Added comment: Well established gene-disease association. Radial ray abnormalities are a feature of LADD syndrome.
Sources: Expert list
Radial Ray Abnormalities v0.64 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Radial Ray Abnormalities v0.64 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.64 FGFR3 Zornitza Stark Classified gene: FGFR3 as Green List (high evidence)
Radial Ray Abnormalities v0.64 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.63 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730
Review for gene: FGFR3 was set to GREEN
Added comment: Well established gene-disease association. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome.
Sources: Expert list
Radial Ray Abnormalities v0.62 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Radial Ray Abnormalities v0.62 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.62 FIG4 Zornitza Stark Classified gene: FIG4 as Green List (high evidence)
Radial Ray Abnormalities v0.62 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.61 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 23623387
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, MIM# 216340
Review for gene: FIG4 was set to GREEN
Added comment: Absent thumbs are a feature of Yunis-Varon syndrome.
Sources: Expert list
Radial Ray Abnormalities v0.60 FLNA Zornitza Stark Marked gene: FLNA as ready
Radial Ray Abnormalities v0.60 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.60 FLNA Zornitza Stark Classified gene: FLNA as Green List (high evidence)
Radial Ray Abnormalities v0.60 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.59 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to 12612583
Phenotypes for gene: FLNA were set to Melnick-Needles syndrome, 309350
Review for gene: FLNA was set to GREEN
Added comment: Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs
Sources: Expert list
Radial Ray Abnormalities v0.58 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Radial Ray Abnormalities v0.58 GATA1 Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.58 GATA1 Zornitza Stark Classified gene: GATA1 as Red List (low evidence)
Radial Ray Abnormalities v0.58 GATA1 Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.57 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Radial Ray Abnormalities v0.57 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Radial Ray Abnormalities v0.57 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.57 HDAC8 Zornitza Stark Classified gene: HDAC8 as Green List (high evidence)
Radial Ray Abnormalities v0.57 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.56 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HDAC8 were set to 30614194; 24403048
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, MIM# 300882
Review for gene: HDAC8 was set to GREEN
Added comment: Well established CdL gene.
Sources: Expert list
Radial Ray Abnormalities v0.55 HOXA13 Zornitza Stark Marked gene: HOXA13 as ready
Radial Ray Abnormalities v0.55 HOXA13 Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.55 HOXA13 Zornitza Stark Classified gene: HOXA13 as Green List (high evidence)
Radial Ray Abnormalities v0.55 HOXA13 Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.54 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOXA13 were set to Hand-foot-uterus syndrome, MIM# 140000
Review for gene: HOXA13 was set to GREEN
Added comment: Well established gene-disease association, hypoplastic thumbs reported.
Sources: Expert list
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Marked gene: LMBR1 as ready
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Classified gene: LMBR1 as Green List (high evidence)
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.52 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Radial Ray Abnormalities. Sources: Expert list
SV/CNV tags were added to gene: LMBR1.
Mode of inheritance for gene: LMBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome, MIM# 135750
Review for gene: LMBR1 was set to GREEN
Added comment: Radial aplasia but with ulnar dimelia. Reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb.
Sources: Expert list
Radial Ray Abnormalities v0.51 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Radial Ray Abnormalities v0.51 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.51 NIPBL Zornitza Stark Classified gene: NIPBL as Green List (high evidence)
Radial Ray Abnormalities v0.51 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.50 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM# 122470
Review for gene: NIPBL was set to GREEN
Added comment: Well established gene-disease association. Radial ray abnormalities are a key part of the phenotype.
Sources: Expert list
Radial Ray Abnormalities v0.49 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Radial Ray Abnormalities v0.49 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.49 RAD21 Zornitza Stark Classified gene: RAD21 as Green List (high evidence)
Radial Ray Abnormalities v0.49 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.48 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 32193685
Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, MIM# 614701
Review for gene: RAD21 was set to GREEN
Added comment: Recent large series of over 40 affected individuals published. Radial ray abnormalities are part of the phenotype.
Sources: Expert list
Radial Ray Abnormalities v0.47 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Radial Ray Abnormalities v0.47 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.47 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Radial Ray Abnormalities v0.46 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Radial Ray Abnormalities v0.45 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.44 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.44 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Radial Ray Abnormalities v0.44 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.44 RBM8A Zornitza Stark Classified gene: RBM8A as Green List (high evidence)
Radial Ray Abnormalities v0.44 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.43 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Radial Ray Abnormalities. Sources: Expert list
SV/CNV tags were added to gene: RBM8A.
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
Review for gene: RBM8A was set to GREEN
Added comment: Vast majority are due to a recurrent 200kb deletion on one allele (although truncations are seen) and the presence of 1 of 2 SNPs in trans. The SNPs have a MAF of 3.05% and 0.42%.
Sources: Expert list
Radial Ray Abnormalities v0.42 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Radial Ray Abnormalities v0.42 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.42 RECQL4 Zornitza Stark Classified gene: RECQL4 as Green List (high evidence)
Radial Ray Abnormalities v0.42 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.41 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400
Review for gene: RECQL4 was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert list
Radial Ray Abnormalities v0.40 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Radial Ray Abnormalities v0.40 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.40 RPL15 Zornitza Stark Classified gene: RPL15 as Green List (high evidence)
Radial Ray Abnormalities v0.40 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.39 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 23812780; 29599205
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550
Review for gene: RPL15 was set to GREEN
Added comment: Seven unrelated individuals reported to date.
Sources: Expert list
Radial Ray Abnormalities v0.38 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Radial Ray Abnormalities v0.38 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.38 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Radial Ray Abnormalities v0.37 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Radial Ray Abnormalities v0.36 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.35 RPS28 Zornitza Stark Classified gene: RPS28 as Red List (low evidence)
Radial Ray Abnormalities v0.35 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.34 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark Deleted their comment
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark commented on gene: RPS29: Two families reported in 2014, none since.
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909
Radial Ray Abnormalities v0.33 RPS29 Zornitza Stark Publications for gene: RPS29 were set to
Radial Ray Abnormalities v0.32 RPS29 Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.31 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Radial Ray Abnormalities v0.31 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.30 RPS29 Zornitza Stark edited their review of gene: RPS29: Changed rating: AMBER
Radial Ray Abnormalities v0.30 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: ; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.30 SF3B4 Zornitza Stark Marked gene: SF3B4 as ready
Radial Ray Abnormalities v0.30 SF3B4 Zornitza Stark Gene: sf3b4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.30 SF3B4 Zornitza Stark Classified gene: SF3B4 as Green List (high evidence)
Radial Ray Abnormalities v0.30 SF3B4 Zornitza Stark Gene: sf3b4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.29 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B4 were set to 22541558
Phenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type, MIM# 154400
Review for gene: SF3B4 was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert list
Radial Ray Abnormalities v0.28 SHOX Zornitza Stark Marked gene: SHOX as ready
Radial Ray Abnormalities v0.28 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.28 SHOX Zornitza Stark Classified gene: SHOX as Green List (high evidence)
Radial Ray Abnormalities v0.28 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.27 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: SHOX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700
Review for gene: SHOX was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert list
Radial Ray Abnormalities v0.26 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Radial Ray Abnormalities v0.26 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Radial Ray Abnormalities v0.26 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.26 SMC1A Zornitza Stark Classified gene: SMC1A as Green List (high evidence)
Radial Ray Abnormalities v0.26 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.25 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590
Review for gene: SMC1A was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. XLD.
Sources: Expert list
Radial Ray Abnormalities v0.24 SMC3 Zornitza Stark edited their review of gene: SMC3: Changed publications: 25125236, 25655089; Changed phenotypes: Cornelia de Lange syndrome 3, MIM# 610759
Radial Ray Abnormalities v0.24 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Radial Ray Abnormalities v0.24 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.24 SMC3 Zornitza Stark Publications for gene: SMC3 were set to 25125236
Radial Ray Abnormalities v0.23 SMC3 Zornitza Stark Classified gene: SMC3 as Green List (high evidence)
Radial Ray Abnormalities v0.23 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.22 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMC3 were set to 25125236
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM# 610759
Review for gene: SMC3 was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype.
Sources: Expert list
Radial Ray Abnormalities v0.21 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Radial Ray Abnormalities v0.21 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.21 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Radial Ray Abnormalities v0.21 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.20 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368; 26085575; 26119737
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
Review for gene: UBE2T was set to GREEN
Added comment: At least three families reported, including with radial ray abnormalities. Note some of the variants are CNVs.
Sources: Expert list
Radial Ray Abnormalities v0.19 WNT7A Zornitza Stark Marked gene: WNT7A as ready
Radial Ray Abnormalities v0.19 WNT7A Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.19 WNT7A Zornitza Stark Classified gene: WNT7A as Green List (high evidence)
Radial Ray Abnormalities v0.19 WNT7A Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.18 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7A were set to 21344627; 20949531; 16826533
Phenotypes for gene: WNT7A were set to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Review for gene: WNT7A was set to GREEN
Added comment: Although WNT7A-related conditions cause ulnar abnormalities, include in this panel due to phenotypic overlap (single forearm bone may be difficult to distinguish, particularly in non-specialist setting).
Sources: Expert list
Radial Ray Abnormalities v0.17 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Radial Ray Abnormalities v0.17 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.17 ZIC3 Zornitza Stark Classified gene: ZIC3 as Green List (high evidence)
Radial Ray Abnormalities v0.17 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.16 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZIC3 were set to 21465648; 20452998; 26294094
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked 314390
Review for gene: ZIC3 was set to GREEN
Added comment: Several families reported with VACTERL-H association, gene is also linked to laterality defects and isolated congenital heart disease.
Sources: Expert list
Radial Ray Abnormalities v0.15 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Radial Ray Abnormalities v0.15 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.15 FGF10 Zornitza Stark Classified gene: FGF10 as Green List (high evidence)
Radial Ray Abnormalities v0.15 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.14 FGF10 Natalie Tan gene: FGF10 was added
gene: FGF10 was added to Radial Ray Abnormalities. Sources: NHS GMS
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF10 were set to PMID: 15654336; 16501574; 16630169; 17682060
Phenotypes for gene: FGF10 were set to Lacrimoauriculodentodigital syndrome (149730); Aplasia of lacrimal and salivary glands (180920)
Review for gene: FGF10 was set to GREEN
Added comment: Multiple unrelated individuals with heterozygous variants reported in association with LADD syndrome, which manifests variable radial ray features. Allelic condition: aplasia of lacrimal and salivary glands.
Sources: NHS GMS
Radial Ray Abnormalities v0.14 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Radial Ray Abnormalities v0.14 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.14 DACT1 Zornitza Stark Classified gene: DACT1 as Red List (low evidence)
Radial Ray Abnormalities v0.14 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.13 ESCO2 Seb Lunke Marked gene: ESCO2 as ready
Radial Ray Abnormalities v0.13 ESCO2 Seb Lunke Gene: esco2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.13 ESCO2 Seb Lunke Publications for gene: ESCO2 were set to PMID: 19574259; 16380922
Radial Ray Abnormalities v0.12 ESCO2 Seb Lunke Classified gene: ESCO2 as Green List (high evidence)
Radial Ray Abnormalities v0.12 ESCO2 Seb Lunke Gene: esco2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.11 ESCO2 Natalie Tan changed review comment from: Sources: NHS GMS; to: Sources: NHS GMS

Multiple unrelated individuals with biallelic variants in association with Roberts syndrome/SC phocomelia spectrum.
Radial Ray Abnormalities v0.11 ESCO2 Natalie Tan gene: ESCO2 was added
gene: ESCO2 was added to Radial Ray Abnormalities. Sources: NHS GMS
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to PMID: 19574259; 16380922
Phenotypes for gene: ESCO2 were set to Roberts syndrome 268300; SC phocomelia syndrome 269000
Review for gene: ESCO2 was set to GREEN
Added comment: Sources: NHS GMS
Radial Ray Abnormalities v0.11 DACT1 Natalie Tan gene: DACT1 was added
gene: DACT1 was added to Radial Ray Abnormalities. Sources: NHS GMS
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACT1 were set to PMID: 28054444; 22610794; 19701191
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2 (OMIM #617466)
Review for gene: DACT1 was set to RED
Added comment: Webb et al. (2017) reported 6 affected members of a 3-generation family with ?Townes-Brocks syndrome-2, identified heterozygosity for a nonsense mutation in the DACT1 gene that segregated with disease. Clinical features include imperforate anus, rectovaginal fistula, crossed fused renal ectopia, vesicoureteral reflux, unilateral microtia, overfolded helices and cupped ears. One family member (proband's mother) with scoliosis and spina bifida occulta. Neural tube defects reported in a study of human fetuses (PMID: 22610794) and a mouse model (PMID: 19701191). Listed in Decipher v10.0 for an individual with abnormalities of (i) head or neck (ii) nervous system (iii) skeletal system. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1, there is no information specifically relating to DACT1 with radial dysplasia, as these were not observed in the family with ?Townes-Brocks syndrome 2 (PMID: 28054444).
Sources: NHS GMS
Radial Ray Abnormalities v0.11 TBX5 Zornitza Stark Marked gene: TBX5 as ready
Radial Ray Abnormalities v0.11 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.11 TBX5 Zornitza Stark Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome, MIM# 142900
Radial Ray Abnormalities v0.10 TBX5 Zornitza Stark Publications for gene: TBX5 were set to
Radial Ray Abnormalities v0.9 TBX5 Zornitza Stark Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.8 TBX5 Zornitza Stark reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10077612, 31373354; Phenotypes: Holt-Oram syndrome, MIM# 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.8 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Radial Ray Abnormalities v0.8 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.8 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900
Radial Ray Abnormalities v0.7 RPL26 Zornitza Stark Publications for gene: RPL26 were set to
Radial Ray Abnormalities v0.6 RPL26 Zornitza Stark Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.5 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Radial Ray Abnormalities v0.5 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.4 RPL26 Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.4 Zornitza Stark Panel name changed from Radial Ray Abnormalities_VCGS to Radial Ray Abnormalities
Panel types changed to Victorian Clinical Genetics Services
Radial Ray Abnormalities v0.3 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Radial Ray Abnormalities v0.3 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.2 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Radial Ray Abnormalities v0.2 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.1 NPM1 Sue White Marked gene: NPM1 as ready
Radial Ray Abnormalities v0.1 NPM1 Sue White Gene: npm1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.1 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Radial Ray Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Penetrance for gene: NPM1 were set to unknown
Review for gene: NPM1 was set to GREEN
gene: NPM1 was marked as current diagnostic
Added comment: heterozygous variants cause dyskeratosis congenita phenotype
Sources: Literature
Radial Ray Abnormalities v0.0 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX5 was set to Unknown
Radial Ray Abnormalities v0.0 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX3 was set to Unknown
Radial Ray Abnormalities v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLX4 was set to Unknown
Radial Ray Abnormalities v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SALL4 was set to Unknown
Radial Ray Abnormalities v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SALL1 was set to Unknown
Radial Ray Abnormalities v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS7 was set to Unknown
Radial Ray Abnormalities v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS29 was set to Unknown
Radial Ray Abnormalities v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS28 was set to Unknown
Radial Ray Abnormalities v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS26 was set to Unknown
Radial Ray Abnormalities v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS24 was set to Unknown
Radial Ray Abnormalities v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS19 was set to Unknown
Radial Ray Abnormalities v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS17 was set to Unknown
Radial Ray Abnormalities v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS10 was set to Unknown
Radial Ray Abnormalities v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL5 was set to Unknown
Radial Ray Abnormalities v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL35A was set to Unknown
Radial Ray Abnormalities v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL26 was set to Unknown
Radial Ray Abnormalities v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL11 was set to Unknown
Radial Ray Abnormalities v0.0 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51C was set to Unknown
Radial Ray Abnormalities v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PALB2 was set to Unknown
Radial Ray Abnormalities v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA1 was set to Unknown
Radial Ray Abnormalities v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCM was set to Unknown
Radial Ray Abnormalities v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCL was set to Unknown
Radial Ray Abnormalities v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCI was set to Unknown
Radial Ray Abnormalities v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCG was set to Unknown
Radial Ray Abnormalities v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCF was set to Unknown
Radial Ray Abnormalities v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCE was set to Unknown
Radial Ray Abnormalities v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCD2 was set to Unknown
Radial Ray Abnormalities v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCC was set to Unknown
Radial Ray Abnormalities v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCB was set to Unknown
Radial Ray Abnormalities v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCA was set to Unknown
Radial Ray Abnormalities v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC4 was set to Unknown
Radial Ray Abnormalities v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRIP1 was set to Unknown
Radial Ray Abnormalities v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRCA2 was set to Unknown
Radial Ray Abnormalities v0.0 Zornitza Stark Added panel Radial Ray Abnormalities_VCGS