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Radial dysplasia v1.24 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600; RAPILINO syndrome, 266280; Rothmund-Thomson syndrome, 268400 to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
Radial dysplasia v1.23 SHOX Arina Puzriakova Phenotypes for gene: SHOX were changed from Leri-Weill dyschondrosteosis, 127300; bowing of the radius; radioulnar shortening; Langer mesomelic dysplasia, 249700; curved radius; dorsolateral bowed, short radii to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582; Dorsolateral bowed, short radii; Bowing and curving of radius; Radioulnar shortening
Radial dysplasia v1.22 RAD21 Arina Puzriakova Classified gene: RAD21 as Amber List (moderate evidence)
Radial dysplasia v1.22 RAD21 Arina Puzriakova Added comment: Comment on list classification: Although limb abnormalities are a common feature of CdLS, only minor skeletal anomalies are associated with RAD21 variants. Other prominent features such as ID are more likely to prompt testing and therefore maintaining the Amber rating on skeletal panels for now.

Krab et al. 2020 (PMID: 32193685) collated details on 33 unrelated families (previously and newly published) with RAD21 alterations. In the 22 families with sufficient clinical data available, authors noted that major limb malformations are generally not present. However, minor skeletal anomalies such as clinodactyly of fifth finger (13), camptodactyly (3), scoliosis (2), hip dislocation/dysplasia (2) are reported.
Radial dysplasia v1.22 RAD21 Arina Puzriakova Gene: rad21 has been classified as Amber List (Moderate Evidence).
Radial dysplasia v1.21 RAD21 Arina Puzriakova Publications for gene: RAD21 were set to 22633399; 31334757; 32193685
Radial dysplasia v1.20 RAD21 Arina Puzriakova Tag watchlist was removed from gene: RAD21.
Radial dysplasia v1.20 RAD21 Arina Puzriakova Publications for gene: RAD21 were set to 22633399; 31334757
Radial dysplasia v1.19 RAD21 Arina Puzriakova Phenotypes for gene: RAD21 were changed from Cornelia de Lange syndrome 4, 614701 to Cornelia de Lange syndrome 4, OMIM:614701
Radial dysplasia v1.18 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054 to Fanconi anemia, complementation group J, OMIM:609054
Radial dysplasia v1.17 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724 to Fanconi anemia, complementation group D1, OMIM:605724
Radial dysplasia v1.16 LMBR1 Arina Puzriakova Mode of inheritance for gene: LMBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Radial dysplasia v1.15 SHOX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Radial dysplasia v1.15 FIG4 Sarah Leigh commented on gene: FIG4: Amyotrophic lateral sclerosis 11 OMIM:612577 is not relevant to this panel, so bialellic mode of inheritance is appropriate.
Radial dysplasia v1.15 FIG4 Sarah Leigh Phenotypes for gene: FIG4 were changed from Yunis-Varon syndrome, 216340; Aplastic/hypoplastic thumbs; absent thumbs to Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995
Radial dysplasia v1.14 FLNA Arina Puzriakova Phenotypes for gene: FLNA were changed from Melnick-Needles syndrome, 309350 to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120; Terminal osseous dysplasia, OMIM:300244
Radial dysplasia v1.13 SMC1A Arina Puzriakova Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, 300590 to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370
Radial dysplasia v1.12 NPM1 Arina Puzriakova Mode of inheritance for gene: NPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Radial dysplasia v1.11 NPM1 Arina Puzriakova Classified gene: NPM1 as Red List (low evidence)
Radial dysplasia v1.11 NPM1 Arina Puzriakova Added comment: Comment on list classification: Rated Red as skeletal abnormalities in the radius only observed in one patient. Additional cases required to corroborate causality and better define the phenotype. Both variants currently classified VUS - no information regarding segregation or zygosity.
Radial dysplasia v1.11 NPM1 Arina Puzriakova Gene: npm1 has been classified as Red List (Low Evidence).
Radial dysplasia v1.10 NPM1 Arina Puzriakova reviewed gene: NPM1: Rating: ; Mode of pathogenicity: None; Publications: 31570891; Phenotypes: Dyskeratosis congenita; Mode of inheritance: Unknown
Radial dysplasia v1.10 KCNH1 Zornitza Stark reviewed gene: KCNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Temple-Baraitser syndrome, MIM# 611816; Mode of inheritance: None
Radial dysplasia v1.10 NPM1 Zornitza Stark gene: NPM1 was added
gene: NPM1 was added to Radial dysplasia. Sources: Expert list
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Review for gene: NPM1 was set to GREEN
gene: NPM1 was marked as current diagnostic
Added comment: Recently reported association with a dyskeratosis congenita phenotype; supportive mouse model.
Sources: Expert list
Radial dysplasia v1.10 RAD21 Zornitza Stark reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 32193685; Phenotypes: Cornelia de Lange syndrome 4, MIM# 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial dysplasia v1.10 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial dysplasia v1.10 RPL15 Zornitza Stark reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: 29599205; Phenotypes: Diamond-Blackfan anemia 12; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Radial dysplasia v1.10 RAD21 Sarah Leigh Classified gene: RAD21 as Green List (high evidence)
Radial dysplasia v1.10 RAD21 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for CRANIOECTODERMAL DYSPLASIA. At least 4 variants reported.
Radial dysplasia v1.10 RAD21 Sarah Leigh Gene: rad21 has been classified as Green List (High Evidence).
Radial dysplasia v1.9 RAD21 Sarah Leigh Publications for gene: RAD21 were set to 22633399; 31334757]
Radial dysplasia v1.8 RAD21 Sarah Leigh Publications for gene: RAD21 were set to 22633399
Radial dysplasia v1.7 ZIC3 Louise Daugherty commented on gene: ZIC3
Radial dysplasia v1.7 ZIC3 Louise Daugherty Tag watchlist was removed from gene: ZIC3.
Radial dysplasia v1.7 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
Radial dysplasia v1.7 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Radial dysplasia v1.6 LMBR1 Eleanor Williams commented on gene: LMBR1
Radial dysplasia FANCM Ellen McDonagh reviewed FANCM
Radial dysplasia DACT1 Louise Daugherty added DACT1 to panel
Radial dysplasia DACT1 Louise Daugherty reviewed DACT1
Radial dysplasia ZIC3 Helen Brittain commented on ZIC3
Radial dysplasia Rebecca Foulger promoted panel to version 1
Radial dysplasia ZIC3 Helen Brittain classified ZIC3 as green
Radial dysplasia ZIC3 Helen Brittain marked ZIC3 as ready
Radial dysplasia ZIC3 Helen Brittain classified ZIC3 as amber
Radial dysplasia WNT7A Helen Brittain marked WNT7A as ready
Radial dysplasia WNT7A Helen Brittain classified WNT7A as green
Radial dysplasia WNT7A Helen Brittain commented on WNT7A
Radial dysplasia UBE2T Helen Brittain marked UBE2T as ready
Radial dysplasia UBE2T Helen Brittain commented on UBE2T
Radial dysplasia UBE2T Helen Brittain classified UBE2T as green
Radial dysplasia TBX3 Helen Brittain marked TBX3 as ready
Radial dysplasia TBX3 Helen Brittain commented on TBX3
Radial dysplasia TBX3 Helen Brittain classified TBX3 as green
Radial dysplasia SMC3 Helen Brittain marked SMC3 as ready
Radial dysplasia SMC3 Helen Brittain commented on SMC3
Radial dysplasia SMC3 Helen Brittain classified SMC3 as green
Radial dysplasia SHOX Helen Brittain marked SHOX as ready
Radial dysplasia SHOX Helen Brittain commented on SHOX
Radial dysplasia SHOX Helen Brittain classified SHOX as green
Radial dysplasia SF3B4 Helen Brittain marked SF3B4 as ready
Radial dysplasia SF3B4 Helen Brittain commented on SF3B4
Radial dysplasia SF3B4 Helen Brittain classified SF3B4 as green
Radial dysplasia SAMD9 Helen Brittain marked SAMD9 as ready
Radial dysplasia SALL1 Helen Brittain marked SALL1 as ready
Radial dysplasia SALL1 Helen Brittain commented on SALL1
Radial dysplasia SALL1 Helen Brittain classified SALL1 as green
Radial dysplasia RPS7 Helen Brittain marked RPS7 as ready
Radial dysplasia RPS7 Helen Brittain commented on RPS7
Radial dysplasia RPS7 Helen Brittain classified RPS7 as green
Radial dysplasia RPS29 Helen Brittain marked RPS29 as ready
Radial dysplasia RPS29 Helen Brittain commented on RPS29
Radial dysplasia RPS29 Helen Brittain classified RPS29 as amber
Radial dysplasia RPS26 Helen Brittain commented on RPS26
Radial dysplasia RPS26 Helen Brittain marked RPS26 as ready
Radial dysplasia RPS26 Helen Brittain classified RPS26 as green
Radial dysplasia RPS24 Helen Brittain marked RPS24 as ready
Radial dysplasia RPS24 Helen Brittain commented on RPS24
Radial dysplasia RPS24 Helen Brittain classified RPS24 as green
Radial dysplasia RPS19 Helen Brittain marked RPS19 as ready
Radial dysplasia RPS19 Helen Brittain commented on RPS19
Radial dysplasia RPS19 Helen Brittain classified RPS19 as green
Radial dysplasia RPS17 Helen Brittain marked RPS17 as ready
Radial dysplasia RPS17 Helen Brittain classified RPS17 as green
Radial dysplasia RPS10 Helen Brittain marked RPS10 as ready
Radial dysplasia RPS10 Helen Brittain commented on RPS10
Radial dysplasia RPS10 Helen Brittain classified RPS10 as green
Radial dysplasia RPL5 Helen Brittain marked RPL5 as ready
Radial dysplasia RPL5 Helen Brittain commented on RPL5
Radial dysplasia RPL5 Helen Brittain classified RPL5 as green
Radial dysplasia RPL35A Helen Brittain marked RPL35A as ready
Radial dysplasia RPL35A Helen Brittain classified RPL35A as green
Radial dysplasia RPL35A Helen Brittain commented on RPL35A
Radial dysplasia RPL26 Helen Brittain marked RPL26 as ready
Radial dysplasia RPL26 Helen Brittain commented on RPL26
Radial dysplasia RPL26 Helen Brittain classified RPL26 as amber
Radial dysplasia RPL15 Helen Brittain marked RPL15 as ready
Radial dysplasia RPL15 Helen Brittain commented on RPL15
Radial dysplasia RPL15 Helen Brittain classified RPL15 as amber
Radial dysplasia RPL11 Helen Brittain marked RPL11 as ready
Radial dysplasia RPL11 Helen Brittain commented on RPL11
Radial dysplasia RPL11 Helen Brittain classified RPL11 as green
Radial dysplasia PUF60 Helen Brittain marked PUF60 as ready
Radial dysplasia PUF60 Helen Brittain commented on PUF60
Radial dysplasia PTEN Helen Brittain marked PTEN as ready
Radial dysplasia PTEN Helen Brittain classified PTEN as amber
Radial dysplasia PITX1 Helen Brittain marked PITX1 as ready
Radial dysplasia PITX1 Helen Brittain commented on PITX1
Radial dysplasia SMC1A Helen Brittain marked SMC1A as ready
Radial dysplasia SMC1A Helen Brittain commented on SMC1A
Radial dysplasia SMC1A Helen Brittain classified SMC1A as green
Radial dysplasia RAD21 Helen Brittain marked RAD21 as ready
Radial dysplasia RAD21 Helen Brittain classified RAD21 as amber
Radial dysplasia RAD21 Helen Brittain commented on RAD21
Radial dysplasia NIPBL Helen Brittain marked NIPBL as ready
Radial dysplasia NIPBL Helen Brittain commented on NIPBL
Radial dysplasia NIPBL Helen Brittain classified NIPBL as green
Radial dysplasia KCNH1 Helen Brittain marked KCNH1 as ready
Radial dysplasia KCNH1 Helen Brittain classified KCNH1 as green
Radial dysplasia HDAC8 Helen Brittain marked HDAC8 as ready
Radial dysplasia HDAC8 Helen Brittain commented on HDAC8
Radial dysplasia HDAC8 Helen Brittain classified HDAC8 as green
Radial dysplasia FLNA Helen Brittain marked FLNA as ready
Radial dysplasia FLNA Helen Brittain classified FLNA as green
Radial dysplasia FLNA Helen Brittain commented on FLNA
Radial dysplasia FIG4 Helen Brittain marked FIG4 as ready
Radial dysplasia FIG4 Helen Brittain commented on FIG4
Radial dysplasia FIG4 Helen Brittain classified FIG4 as green
Radial dysplasia FGFR3 Helen Brittain marked FGFR3 as ready
Radial dysplasia FGFR3 Helen Brittain commented on FGFR3
Radial dysplasia FGFR3 Helen Brittain classified FGFR3 as green
Radial dysplasia FGFR2 Helen Brittain commented on FGFR2
Radial dysplasia FGFR2 Helen Brittain marked FGFR2 as ready
Radial dysplasia FGFR2 Helen Brittain classified FGFR2 as green
Radial dysplasia FGF10 Helen Brittain marked FGF10 as ready
Radial dysplasia FGF10 Helen Brittain commented on FGF10
Radial dysplasia FGF10 Helen Brittain classified FGF10 as green
Radial dysplasia FANCM Helen Brittain marked FANCM as ready
Radial dysplasia ESCO2 Helen Brittain marked ESCO2 as ready
Radial dysplasia ESCO2 Helen Brittain classified ESCO2 as green
Radial dysplasia ESCO2 Helen Brittain commented on ESCO2
Radial dysplasia CREBBP Helen Brittain marked CREBBP as ready
Radial dysplasia CREBBP Helen Brittain commented on CREBBP
Radial dysplasia SALL4 Helen Brittain marked SALL4 as ready
Radial dysplasia SALL4 Helen Brittain commented on SALL4
Radial dysplasia SALL4 Helen Brittain classified SALL4 as green
Radial dysplasia RECQL4 Helen Brittain marked RECQL4 as ready
Radial dysplasia RECQL4 Helen Brittain commented on RECQL4
Radial dysplasia RECQL4 Helen Brittain classified RECQL4 as green
Radial dysplasia LMBR1 Helen Brittain marked LMBR1 as ready
Radial dysplasia LMBR1 Helen Brittain commented on LMBR1
Radial dysplasia LMBR1 Helen Brittain classified LMBR1 as green
Radial dysplasia ERCC4 Helen Brittain marked ERCC4 as ready
Radial dysplasia ERCC4 Helen Brittain classified ERCC4 as green
Radial dysplasia TBX5 Helen Brittain marked TBX5 as ready
Radial dysplasia SLX4 Helen Brittain marked SLX4 as ready
Radial dysplasia RBM8A Helen Brittain marked RBM8A as ready
Radial dysplasia RAD51C Helen Brittain marked RAD51C as ready
Radial dysplasia RAD51C Helen Brittain classified RAD51C as amber
Radial dysplasia PALB2 Helen Brittain marked PALB2 as ready
Radial dysplasia HOXA13 Helen Brittain commented on HOXA13
Radial dysplasia HOXA13 Helen Brittain reviewed HOXA13
Radial dysplasia FANCL Helen Brittain marked FANCL as ready
Radial dysplasia FANCI Helen Brittain marked FANCI as ready
Radial dysplasia FANCG Helen Brittain marked FANCG as ready
Radial dysplasia FANCF Helen Brittain marked FANCF as ready
Radial dysplasia FANCE Helen Brittain marked FANCE as ready
Radial dysplasia FANCD2 Helen Brittain marked FANCD2 as ready
Radial dysplasia FANCC Helen Brittain marked FANCC as ready
Radial dysplasia FANCB Helen Brittain marked FANCB as ready
Radial dysplasia FANCB Helen Brittain commented on FANCB
Radial dysplasia FANCA Helen Brittain marked FANCA as ready
Radial dysplasia BRIP1 Helen Brittain marked BRIP1 as ready
Radial dysplasia BRCA2 Helen Brittain marked BRCA2 as ready
Radial dysplasia ZIC3 Helen Brittain reviewed ZIC3
Radial dysplasia SAMD9 Helen Brittain reviewed SAMD9
Radial dysplasia KCNH1 Helen Brittain reviewed KCNH1
Radial dysplasia TBX5 Helen Brittain reviewed TBX5
Radial dysplasia FANCM Rebecca Foulger classified FANCM as red
Radial dysplasia FANCM Rebecca Foulger commented on FANCM
Radial dysplasia SHOX Rebecca Foulger commented on SHOX
Radial dysplasia PUF60 Richard Scott added PUF60 to panel
Radial dysplasia PUF60 Richard Scott reviewed PUF60
Radial dysplasia HOXA13 Richard Scott marked HOXA13 as ready
Radial dysplasia HOXA13 Richard Scott classified HOXA13 as green
Radial dysplasia HOXA13 Richard Scott added HOXA13 to panel
Radial dysplasia HOXA13 Richard Scott reviewed HOXA13
Radial dysplasia LMBR1 Rebecca Foulger commented on LMBR1
Radial dysplasia PITX1 Rebecca Foulger reviewed PITX1
Radial dysplasia UBE2T Rebecca Foulger commented on UBE2T
Radial dysplasia RPS29 Rebecca Foulger commented on RPS29
Radial dysplasia SALL4 Rebecca Foulger commented on SALL4
Radial dysplasia PTEN Rebecca Foulger commented on PTEN
Radial dysplasia RBM8A Rebecca Foulger commented on RBM8A