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Laterality disorders and isomerism v1.45 BRWD1 Ivone Leong Classified gene: BRWD1 as Red List (low evidence)
Laterality disorders and isomerism v1.45 BRWD1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. As only 1 case has situs inversus this gene has been added to this panel as a Red gene.

After discussion with the Genomics England Clinical Team it was decided that this gene would be better suited for the Respiratory ciliopathies including non-CF bronchiectasis (Version 1.45). This gene has been added as an Amber gene with a recommendation for Green status on that panel.
Laterality disorders and isomerism v1.45 BRWD1 Ivone Leong Gene: brwd1 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v1.44 NODAL Ivone Leong commented on gene: NODAL
Laterality disorders and isomerism v1.44 NODAL Ivone Leong Tag Q2_21_expert_review tag was added to gene: NODAL.
Laterality disorders and isomerism v1.44 NKX2-5 Ivone Leong Publications for gene: NKX2-5 were set to 25742962; 26805889
Laterality disorders and isomerism v1.43 NKX2-5 Ivone Leong edited their review of gene: NKX2-5: Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype.

PMID: 12414819 describes 2 unrelated families. Family 1: 4 family members with variant in NKX2-5 had atrial septum defect. One of these family members was also diagnosed with polyspenia, midline symmetrical liver, ascending colon and caecum were shifted to the midline and forwards with the small intestine on the left. Family 2: 3 affected family members had atrial septum defect.

PMID: 25118008 describes a proband with a frameshift variant in NKX2-5 with the following phenotypes: double outlet right ventricle, common AV canal, total anomalous pulmonary venous connection, asplenia, failure to thrive and short stature. The proband also had distorted organ position and liver was centrally located and spleen was not identied at 1 week of age. Also had intestinal malformation and underwent Ladd procedure and gastrostomy tube placement at 3 weeks. The authors in this paper notes that NKX2-5 variants are associated with cardiac malformations that are commonly seen in patients with heterotaxy (i.e. transposition of great artieries and double outlet right ventricle) and also with asplenia in some patients.

After discussion with the Genomics England Clinical Team it was decided that this gene should remain Amber on this panel.; Changed rating: AMBER; Changed publications: 12414819, 25118008
Laterality disorders and isomerism v1.43 NODAL Ivone Leong Publications for gene: NODAL were set to 19064609
Laterality disorders and isomerism v1.42 DNAAF2 Ivone Leong commented on gene: DNAAF2: This gene is associated with a relevant disease in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Laterality disorders and isomerism v1.42 DNAAF2 Ivone Leong Tag Q2_21_rating tag was added to gene: DNAAF2.
Laterality disorders and isomerism v1.42 DNAAF2 Ivone Leong Added comment: Comment on publications: PMID: 32638265 is an additional case in a non-consanguineous Han Chinese family. Proband has compound heterozygous variants in this gene and exhibited typical PCD-related clinical symptoms, including chronic otitis media, and recurrent pneumonia since birth. The proband also had chronic ethmoid and maxillary sinusitis, ring-shaped or ductal opacities throughout both lungs, bilateral lung bronchiectasis, and situs inversus totalis in the heart, liver, and colon.
Laterality disorders and isomerism v1.42 DNAAF2 Ivone Leong Publications for gene: DNAAF2 were set to 19052621; 31107948
Laterality disorders and isomerism v1.41 NKX2-5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Ventricular septal defect 3, OMIM:614432;Tetralogy of Fallot, OMIM:187500
Laterality disorders and isomerism v1.41 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from Ventricular septal defect 3, OMIM:614432; Tetralogy of Fallot, OMIM:187500 to visceral heterotaxy, MONDO:0018677
Laterality disorders and isomerism v1.40 MYH6 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial septal defect 3, OMIM:614089
Laterality disorders and isomerism v1.40 MYH6 Ivone Leong Phenotypes for gene: MYH6 were changed from Atrial septal defect 3, OMIM:614089 to visceral heterotaxy, MONDO:0018677
Laterality disorders and isomerism v1.39 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from to Ventricular septal defect 3, OMIM:614432; Tetralogy of Fallot, OMIM:187500
Laterality disorders and isomerism v1.38 MYH6 Ivone Leong Classified gene: MYH6 as Red List (low evidence)
Laterality disorders and isomerism v1.38 MYH6 Ivone Leong Added comment: Comment on list classification: Downgraded from Amber to Red. There is currently no evidence to support that MYH6 is associated with heterotaxy/laterality defects.
Laterality disorders and isomerism v1.38 MYH6 Ivone Leong Gene: myh6 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v1.37 MYH6 Ivone Leong Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3, OMIM:614089
Laterality disorders and isomerism v1.36 MYH6 Ivone Leong Publications for gene: MYH6 were set to
Laterality disorders and isomerism v1.35 MYH6 Ivone Leong Mode of inheritance for gene: MYH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v1.34 DNAAF2 Ivone Leong Phenotypes for gene: DNAAF2 were changed from Ciliary dyskinesia, primary, 10, 612518 to Ciliary dyskinesia, primary, 10, OMIM:612518
Laterality disorders and isomerism v1.33 DNAAF2 Ivone Leong Publications for gene: DNAAF2 were set to 19052621
Laterality disorders and isomerism v1.32 CFC1 Ivone Leong Tag Q2_21_expert_review tag was added to gene: CFC1.
Laterality disorders and isomerism v1.32 CFC1 Ivone Leong reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Laterality disorders and isomerism v1.32 CFC1 Ivone Leong Tag Q2_21_rating tag was added to gene: CFC1.
Laterality disorders and isomerism v1.32 CFC1 Ivone Leong Phenotypes for gene: CFC1 were changed from Heterotaxy, visceral, 2, 605376 to Heterotaxy, visceral, 2, autosomal, OMIM:605376
Laterality disorders and isomerism v1.31 CFC1 Ivone Leong Publications for gene: CFC1 were set to 11062482; 25423076
Laterality disorders and isomerism v1.30 CCDC65 Ivone Leong commented on gene: CCDC65
Laterality disorders and isomerism v1.30 CCDC65 Ivone Leong Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, OMIM:615504
Laterality disorders and isomerism v1.29 CCDC65 Ivone Leong Publications for gene: CCDC65 were set to
Laterality disorders and isomerism v1.28 CCDC65 Ivone Leong Mode of inheritance for gene: CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v1.27 NKX2-5 Ivone Leong Mode of inheritance for gene: NKX2-5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v1.26 NKX2-5 Ivone Leong Publications for gene: NKX2-5 were set to
Laterality disorders and isomerism v1.25 CFAP52 Ivone Leong Tag Q2_21_rating tag was added to gene: CFAP52.
Laterality disorders and isomerism v1.25 CFAP52 Ivone Leong Classified gene: CFAP52 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.25 CFAP52 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Laterality disorders and isomerism v1.25 CFAP52 Ivone Leong Gene: cfap52 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.24 CFAP52 Ivone Leong Phenotypes for gene: CFAP52 were changed from Heterotaxy to visceral heterotaxy, MONDO:0018677
Laterality disorders and isomerism v1.23 CFAP45 Ivone Leong Classified gene: CFAP45 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.23 CFAP45 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Laterality disorders and isomerism v1.23 CFAP45 Ivone Leong Gene: cfap45 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.22 CFAP45 Ivone Leong Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Situs inversus, MONDO:0010029; male infertility due to sperm motility disorder, MONDO:0018395
Laterality disorders and isomerism v1.21 CFAP45 Ivone Leong Tag Q2_21_rating tag was added to gene: CFAP45.
Laterality disorders and isomerism v1.21 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
Laterality disorders and isomerism v1.21 TTC25 Catherine Snow commented on gene: TTC25
Laterality disorders and isomerism v1.21 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Laterality disorders and isomerism v1.21 CCDC151 Catherine Snow commented on gene: CCDC151
Laterality disorders and isomerism v1.21 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Laterality disorders and isomerism v1.21 ARMC4 Catherine Snow commented on gene: ARMC4
Laterality disorders and isomerism v1.21 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Laterality disorders and isomerism v1.21 CCDC114 Catherine Snow commented on gene: CCDC114
Laterality disorders and isomerism v1.21 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Laterality disorders and isomerism v1.21 LRRC6 Catherine Snow commented on gene: LRRC6
Laterality disorders and isomerism v1.21 BRWD1 Zornitza Stark gene: BRWD1 was added
gene: BRWD1 was added to Laterality disorders and isomerism. Sources: Literature
Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRWD1 were set to 33389130
Phenotypes for gene: BRWD1 were set to Primary ciliary dyskinesia, asthenoteratozoospermia
Review for gene: BRWD1 was set to GREEN
Added comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-like" symptoms of reccurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).
Sources: Literature
Laterality disorders and isomerism v1.21 LRRC56 Arina Puzriakova Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defect to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637; Mucociliary Clearance and Laterality Defect
Laterality disorders and isomerism v1.20 CFAP52 Zornitza Stark gene: CFAP52 was added
gene: CFAP52 was added to Laterality disorders and isomerism. Sources: Literature
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 25469542; 33139725
Phenotypes for gene: CFAP52 were set to Heterotaxy
Review for gene: CFAP52 was set to GREEN
Added comment: Five unrelated families and functional data.
Sources: Literature
Laterality disorders and isomerism v1.20 CFAP45 Zornitza Stark gene: CFAP45 was added
gene: CFAP45 was added to Laterality disorders and isomerism. Sources: Literature
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia
Review for gene: CFAP45 was set to GREEN
Added comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: Literature
Laterality disorders and isomerism v1.20 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Laterality disorders and isomerism v1.19 FOXJ1 Zornitza Stark changed review comment from: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.
Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity
Sources: Expert list; to: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.
Electron microscopy demonstrated cilia were unable to generate fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity
Sources: Expert list
Laterality disorders and isomerism v1.19 DNAH6 Ivone Leong Tag watchlist tag was added to gene: DNAH6.
Laterality disorders and isomerism v1.19 DNAH6 Ivone Leong Classified gene: DNAH6 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.19 DNAH6 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Based on the evidence there is not enough evidence to support a gene-disease association. This gene has been given an Amber gene rating until further evidence is available.
Laterality disorders and isomerism v1.19 DNAH6 Ivone Leong Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.18 FOXJ1 Ivone Leong Classified gene: FOXJ1 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.18 FOXJ1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There are enough cases to support a gene-disease association. There are also several animal models (PMID: 9739041, 15504371) that show that this gene has a role in L-R body assymmetry determination during early embryogenesis. This gene will be upgraded to Green status at the next major update.
Laterality disorders and isomerism v1.18 FOXJ1 Ivone Leong Gene: foxj1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.17 FOXJ1 Ivone Leong Tag for-review tag was added to gene: FOXJ1.
Laterality disorders and isomerism v1.17 FOXJ1 Ivone Leong Publications for gene: FOXJ1 were set to 31630787
Laterality disorders and isomerism v1.16 PKD1L1 Ivone Leong reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Laterality disorders and isomerism v1.16 PKD1L1 Ivone Leong Tag for-review tag was added to gene: PKD1L1.
Laterality disorders and isomerism v1.16 PKD1L1 Ivone Leong Publications for gene: PKD1L1 were set to 31026592; 27616478
Laterality disorders and isomerism v1.15 PKD1L1 Ivone Leong Mode of inheritance for gene: PKD1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v1.14 PKD1L1 Ivone Leong Publications for gene: PKD1L1 were set to 31026592
Laterality disorders and isomerism v1.13 PKD1L1 Ivone Leong Publications for gene: PKD1L1 were set to
Laterality disorders and isomerism v1.12 PKD1L1 Ivone Leong Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal, 617205
Laterality disorders and isomerism v1.11 MNS1 Ivone Leong Classified gene: MNS1 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.11 MNS1 Ivone Leong Added comment: Comment on list classification: This gene has been added as an Amber gene and will be promoted to a Green gene at the next major update. It has been tagged with "for-review".
Laterality disorders and isomerism v1.11 MNS1 Ivone Leong Gene: mns1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.10 MNS1 Ivone Leong reviewed gene: MNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Laterality disorders and isomerism v1.10 MNS1 Ivone Leong Tag for-review tag was added to gene: MNS1.
Laterality disorders and isomerism v1.10 MNS1 Ivone Leong Publications for gene: MNS1 were set to 31534215; 30148830
Laterality disorders and isomerism v1.9 MNS1 Ivone Leong Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy, visceral, 9, autosomal, with male infertility, 618948
Laterality disorders and isomerism v1.8 PKD1L1 Zornitza Stark reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31026592; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v1.8 CCDC32 Eleanor Williams Tag watchlist tag was added to gene: CCDC32.
Laterality disorders and isomerism v1.8 CCDC32 Eleanor Williams Classified gene: CCDC32 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.8 CCDC32 Eleanor Williams Added comment: Comment on list classification: Rating amber as 2 cases plus some functional evidence. Rating agreed with Genomics England clinical team.
Laterality disorders and isomerism v1.8 CCDC32 Eleanor Williams Gene: ccdc32 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.7 CCDC32 Eleanor Williams Classified gene: CCDC32 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.7 CCDC32 Eleanor Williams Gene: ccdc32 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.6 CCDC32 Eleanor Williams gene: CCDC32 was added
gene: CCDC32 was added to Laterality disorders and isomerism. Sources: Literature
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC32 were set to 32307552
Review for gene: CCDC32 was set to AMBER
Added comment: PMID: 32307552 - Harel et al 2020 - report 2 unrelated consanguineous families with probands with homozygous frameshift variants in CCDC32. Parents are heterozygous. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

The child in family 1 presented with cleft lip and palate, atrioventricular (AV) canal defect and abdominal situs inversus with asplenia, borderline microcephaly, hypotelorism, upslanting palpebral fissures, a stiff upper lip, missing teeth attributed to the clefting, vaulted palate with cleft, prominent ears, underdeveloped helices and micrognathia. The child in family 2 presented bilateral cleft lip, cleft palate, ventricular septal defect and pulmonary valve stenosis, Microcephaly (Z score−2.5), brachydactyly, hypertelorism, epicanthal folds, broad nasal root, a prominent large nose and malformed protruded ears.

Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and demonstrate a contribution of ccdc32 in craniofacial, brain and left/right axis development.
Sources: Literature
Laterality disorders and isomerism v1.5 FOXJ1 Zornitza Stark gene: FOXJ1 was added
gene: FOXJ1 was added to Laterality disorders and isomerism. Sources: Expert list
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Review for gene: FOXJ1 was set to GREEN
gene: FOXJ1 was marked as current diagnostic
Added comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.
Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity
Sources: Expert list
Laterality disorders and isomerism v1.5 FANCB Zornitza Stark reviewed gene: FANCB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v1.5 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM# 155310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Laterality disorders and isomerism v1.5 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 5, MIM# 612794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Laterality disorders and isomerism v1.5 NKX2-5 Zornitza Stark reviewed gene: NKX2-5: Rating: RED; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Laterality disorders and isomerism v1.5 CCDC65 Zornitza Stark reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23991085, 24094744; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v1.5 CFC1 Zornitza Stark reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, autosomal 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Laterality disorders and isomerism v1.5 DNAAF2 Zornitza Stark reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19052621, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v1.5 DNAH6 Zornitza Stark gene: DNAH6 was added
gene: DNAH6 was added to Laterality disorders and isomerism. Sources: Expert list
Mode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH6 were set to 26918822
Phenotypes for gene: DNAH6 were set to Heterotaxy; male infertility
Review for gene: DNAH6 was set to AMBER
Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1. Summary: 1 convincing patient with animal model
Sources: Expert list
Laterality disorders and isomerism v1.5 MYH6 Zornitza Stark reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: 20656787, 29969989, 15735645; Phenotypes: Atrial septal defect 3 (MIM#614089); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Laterality disorders and isomerism v1.5 NODAL Zornitza Stark reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: 9354794, 19064609; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Laterality disorders and isomerism v1.5 MNS1 Zornitza Stark gene: MNS1 was added
gene: MNS1 was added to Laterality disorders and isomerism. Sources: Literature
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 31534215; 30148830
Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility
Review for gene: MNS1 was set to GREEN
gene: MNS1 was marked as current diagnostic
Added comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Sources: Literature
Laterality disorders and isomerism v1.4 Catherine Snow Panel version has been signed off
Laterality disorders and isomerism v1.3 Catherine Snow Panel version has been signed off
Laterality disorders and isomerism v1.0 Louise Daugherty promoted panel to version 1.0
Laterality disorders and isomerism v0.136 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Laterality disorders and isomerism v0.135 TTC25 Louise Daugherty Classified gene: TTC25 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.135 TTC25 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.
Laterality disorders and isomerism v0.135 TTC25 Louise Daugherty Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.134 DNAL1 Louise Daugherty Classified gene: DNAL1 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.134 DNAL1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.
Laterality disorders and isomerism v0.134 DNAL1 Louise Daugherty Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.133 DNAAF2 Louise Daugherty Classified gene: DNAAF2 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.133 DNAAF2 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.
Laterality disorders and isomerism v0.133 DNAAF2 Louise Daugherty Gene: dnaaf2 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.132 CFC1 Louise Daugherty Classified gene: CFC1 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.132 CFC1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.
Laterality disorders and isomerism v0.132 CFC1 Louise Daugherty Gene: cfc1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.131 ACVR2B Louise Daugherty changed review comment from: Comment on list classification: Downgraded from Green to Red after expert review. Included update to Test Group to comment on this change before sign off.; to: Comment on list classification: Downgraded from Green to Red after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.
Laterality disorders and isomerism v0.131 ACVR2B Louise Daugherty Classified gene: ACVR2B as Red List (low evidence)
Laterality disorders and isomerism v0.131 ACVR2B Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red after expert review. Included update to Test Group to comment on this change before sign off.
Laterality disorders and isomerism v0.131 ACVR2B Louise Daugherty Gene: acvr2b has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.130 NME8 Louise Daugherty Mode of inheritance for gene: NME8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.129 NME8 Louise Daugherty Publications for gene: NME8 were set to
Laterality disorders and isomerism v0.128 GDF1 Louise Daugherty Mode of inheritance for gene: GDF1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.127 ZMYND10 Louise Daugherty Phenotypes for gene: ZMYND10 were changed from Congenital heart defects, nonsyndromic, 1, X-linked; Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked to Ciliary dyskinesia, primary, 22, 615444
Laterality disorders and isomerism v0.126 ZMYND10 Louise Daugherty Mode of inheritance for gene: ZMYND10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.125 ZMYND10 Louise Daugherty Phenotypes for gene: ZMYND10 were changed from to Congenital heart defects, nonsyndromic, 1, X-linked; Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked
Laterality disorders and isomerism v0.124 ZMYND10 Louise Daugherty Mode of inheritance for gene: ZMYND10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Laterality disorders and isomerism v0.123 ZIC3 Louise Daugherty Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked, 306955; Congenital heart defects, nonsyndromic, 1, X-linked
Laterality disorders and isomerism v0.122 ZIC3 Louise Daugherty Mode of inheritance for gene: ZIC3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Laterality disorders and isomerism v0.121 TTC25 Louise Daugherty Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary, 35, 617092
Laterality disorders and isomerism v0.120 TTC25 Louise Daugherty Publications for gene: TTC25 were set to
Laterality disorders and isomerism v0.119 TTC25 Louise Daugherty Mode of inheritance for gene: TTC25 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.118 SPAG1 Louise Daugherty Phenotypes for gene: SPAG1 were changed from to Ciliary dyskinesia, primary, 28, 615505
Laterality disorders and isomerism v0.117 SPAG1 Louise Daugherty Publications for gene: SPAG1 were set to
Laterality disorders and isomerism v0.116 SPAG1 Louise Daugherty Mode of inheritance for gene: SPAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.115 PIH1D3 Louise Daugherty Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked, 300991
Laterality disorders and isomerism v0.114 PIH1D3 Louise Daugherty Publications for gene: PIH1D3 were set to
Laterality disorders and isomerism v0.113 PIH1D3 Louise Daugherty Mode of inheritance for gene: PIH1D3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Laterality disorders and isomerism v0.112 NODAL Louise Daugherty Phenotypes for gene: NODAL were changed from Heterotaxy, visceral, 5270100 to Heterotaxy, visceral, 5, 270100
Laterality disorders and isomerism v0.111 NODAL Louise Daugherty Phenotypes for gene: NODAL were changed from to Heterotaxy, visceral, 5270100
Laterality disorders and isomerism v0.110 NODAL Louise Daugherty Mode of inheritance for gene: NODAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v0.109 MMP21 Louise Daugherty Phenotypes for gene: MMP21 were changed from to Heterotaxy, visceral, 7, autosomal, 616749
Laterality disorders and isomerism v0.108 MMP21 Louise Daugherty Publications for gene: MMP21 were set to 26437028
Laterality disorders and isomerism v0.107 MMP21 Louise Daugherty Mode of inheritance for gene: MMP21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.106 LRRC6 Louise Daugherty Phenotypes for gene: LRRC6 were changed from to Ciliary dyskinesia, primary, 19, 614935
Laterality disorders and isomerism v0.105 LRRC6 Louise Daugherty Publications for gene: LRRC6 were set to
Laterality disorders and isomerism v0.104 LRRC6 Louise Daugherty Mode of inheritance for gene: LRRC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.103 LRRC56 Louise Daugherty Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defe to Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defect
Laterality disorders and isomerism v0.102 GDF1 Louise Daugherty Phenotypes for gene: GDF1 were changed from to Right atrial isomerism, 208530
Laterality disorders and isomerism v0.101 GDF1 Louise Daugherty Publications for gene: GDF1 were set to
Laterality disorders and isomerism v0.100 DNAL1 Louise Daugherty Publications for gene: DNAL1 were set to
Laterality disorders and isomerism v0.99 DNAL1 Louise Daugherty Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, 614017
Laterality disorders and isomerism v0.98 DNAL1 Louise Daugherty Mode of inheritance for gene: DNAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.97 DNAI2 Louise Daugherty Phenotypes for gene: DNAI2 were changed from to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444
Laterality disorders and isomerism v0.96 DNAI2 Louise Daugherty Publications for gene: DNAI2 were set to
Laterality disorders and isomerism v0.95 DNAI2 Louise Daugherty Mode of inheritance for gene: DNAI2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.94 DNAI1 Louise Daugherty Phenotypes for gene: DNAI1 were changed from to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Laterality disorders and isomerism v0.93 DNAI1 Louise Daugherty Publications for gene: DNAI1 were set to
Laterality disorders and isomerism v0.92 DNAI1 Louise Daugherty Mode of inheritance for gene: DNAI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.91 DNAH9 Louise Daugherty Phenotypes for gene: DNAH9 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, 40, 618300
Laterality disorders and isomerism v0.90 DNAH9 Louise Daugherty Publications for gene: DNAH9 were set to 30471717
Laterality disorders and isomerism v0.89 DNAH5 Louise Daugherty Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Laterality disorders and isomerism v0.88 DNAH5 Louise Daugherty Publications for gene: DNAH5 were set to
Laterality disorders and isomerism v0.87 DNAH5 Louise Daugherty Mode of inheritance for gene: DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.86 DNAH11 Louise Daugherty Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
Laterality disorders and isomerism v0.85 DNAH11 Louise Daugherty Publications for gene: DNAH11 were set to
Laterality disorders and isomerism v0.84 DNAH11 Louise Daugherty Mode of inheritance for gene: DNAH11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.83 DNAAF5 Louise Daugherty Phenotypes for gene: DNAAF5 were changed from to Ciliary dyskinesia, primary, 18, 614874
Laterality disorders and isomerism v0.82 DNAAF5 Louise Daugherty Publications for gene: DNAAF5 were set to
Laterality disorders and isomerism v0.81 DNAAF5 Louise Daugherty Mode of inheritance for gene: DNAAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.80 DNAAF4 Louise Daugherty Phenotypes for gene: DNAAF4 were changed from to Ciliary dyskinesia, primary, 25, 615482
Laterality disorders and isomerism v0.79 DNAAF4 Louise Daugherty Publications for gene: DNAAF4 were set to
Laterality disorders and isomerism v0.78 DNAAF4 Louise Daugherty Mode of inheritance for gene: DNAAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.77 DNAAF3 Louise Daugherty Phenotypes for gene: DNAAF3 were changed from to Ciliary dyskinesia, primary, 2, 606763
Laterality disorders and isomerism v0.76 DNAAF3 Louise Daugherty Mode of inheritance for gene: DNAAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.75 DNAAF3 Louise Daugherty Publications for gene: DNAAF3 were set to
Laterality disorders and isomerism v0.74 DNAAF2 Louise Daugherty Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, 612518
Laterality disorders and isomerism v0.73 DNAAF2 Louise Daugherty Mode of inheritance for gene: DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.72 DNAAF2 Louise Daugherty Publications for gene: DNAAF2 were set to
Laterality disorders and isomerism v0.71 DNAAF1 Louise Daugherty Phenotypes for gene: DNAAF1 were changed from to Ciliary dyskinesia, primary, 13, 613193
Laterality disorders and isomerism v0.70 DNAAF1 Louise Daugherty Publications for gene: DNAAF1 were set to
Laterality disorders and isomerism v0.69 DNAAF1 Louise Daugherty Mode of inheritance for gene: DNAAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.68 CFC1 Louise Daugherty Mode of inheritance for gene: CFC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v0.67 CFC1 Louise Daugherty Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, 605376
Laterality disorders and isomerism v0.66 CFC1 Louise Daugherty Publications for gene: CFC1 were set to 11062482
Laterality disorders and isomerism v0.65 CFAP53 Louise Daugherty Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive, 614779
Laterality disorders and isomerism v0.64 CFAP53 Louise Daugherty Publications for gene: CFAP53 were set to 26531781; 22577226; 25504577
Laterality disorders and isomerism v0.63 CFAP53 Louise Daugherty Mode of inheritance for gene: CFAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.62 CCDC40 Louise Daugherty Publications for gene: CCDC40 were set to
Laterality disorders and isomerism v0.61 CCDC40 Louise Daugherty Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, 613808
Laterality disorders and isomerism v0.60 CCDC40 Louise Daugherty Mode of inheritance for gene: CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.59 CCDC39 Louise Daugherty Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, 613807
Laterality disorders and isomerism v0.58 CCDC39 Louise Daugherty Publications for gene: CCDC39 were set to
Laterality disorders and isomerism v0.57 CCDC39 Louise Daugherty Mode of inheritance for gene: CCDC39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.56 CCDC151 Louise Daugherty Publications for gene: CCDC151 were set to
Laterality disorders and isomerism v0.55 CCDC114 Louise Daugherty Publications for gene: CCDC114 were set to
Laterality disorders and isomerism v0.54 CCDC103 Louise Daugherty Publications for gene: CCDC103 were set to
Laterality disorders and isomerism v0.53 C11orf70 Louise Daugherty Publications for gene: C11orf70 were set to
Laterality disorders and isomerism v0.52 ARMC4 Louise Daugherty Publications for gene: ARMC4 were set to
Laterality disorders and isomerism v0.51 CCDC114 Matthew Edwards reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261302, 23261303; Phenotypes: OMIM 615067 Ciliary dyskinesia, primary, 20; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 CCDC103 Matthew Edwards reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581229, 28790179; Phenotypes: OMIM 614679 Ciliary dyskinesia, primary, 17; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 C11orf70 Matthew Edwards reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: None; Publications: 29727692, 29727693; Phenotypes: OMIM 618063 Ciliary dyskinesia, primary, 38; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 ARMC4 Matthew Edwards reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849778, 24203976; Phenotypes: OMIM 615451 Ciliary dyskinesia, primary, 23; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 ACVR2B Matthew Edwards reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847; Phenotypes: OMIM 613751 Heterotaxy, visceral, 4, autosomal; Mode of inheritance: None
Laterality disorders and isomerism v0.51 ZIC3 Matthew Edwards reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 306955 Heterotaxy, visceral, 1, X-linked, Congenital heart defects, nonsyndromic, 1, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Laterality disorders and isomerism v0.51 TTC25 Matthew Edwards reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486780; Phenotypes: OMIM 617092 Ciliary dyskinesia, primary, 35; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 SPAG1 Matthew Edwards reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112; Phenotypes: OMIM 615505 Ciliary dyskinesia, primary, 28; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 PIH1D3 Matthew Edwards reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421334, 28041644,; Phenotypes: OMIM 300991 Ciliary dyskinesia, primary, 36, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Laterality disorders and isomerism v0.51 NODAL Matthew Edwards reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19064609; Phenotypes: OMIM Heterotaxy, visceral, 5270100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Laterality disorders and isomerism v0.51 MMP21 Matthew Edwards reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437028, 26429889; Phenotypes: OMIM Heterotaxy, visceral, 7, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 CCDC151 Matthew Edwards reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192045, 25224326; Phenotypes: OMIM 616037 Ciliary dyskinesia, primary, 30; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 LRRC6 Matthew Edwards reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891469, 23122589; Phenotypes: OMIM 614935 Ciliary dyskinesia, primary, 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 LRRC56 Matthew Edwards reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388400; Phenotypes: OMIM 618254 Ciliary dyskinesia, primary, 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 GDF1 Matthew Edwards reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20413652, 28991257; Phenotypes: OMIM 208530 Right atrial isomerism; Mode of inheritance: None
Laterality disorders and isomerism v0.51 DNAL1 Matthew Edwards reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: OMIM 614017 Ciliary dyskinesia, primary, 16; Mode of inheritance: None; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAI2 Matthew Edwards reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261302, 18950741; Phenotypes: OMIM 612444 Ciliary dyskinesia, primary, 9, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAI1 Matthew Edwards reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577904, 11231901; Phenotypes: OMIM 244400 Ciliary dyskinesia, primary, 1, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAH9 Matthew Edwards reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: OMIM 618300 Ciliary dyskinesia, primary, 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAH5 Matthew Edwards reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261302, 11788826, 11062149; Phenotypes: OMIM 608644 Ciliary dyskinesia, primary, 3, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAH11 Matthew Edwards reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 12142464, 22184204, 22102620; Phenotypes: OMIM 611884 Ciliary dyskinesia, primary, 7, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAAF5 Matthew Edwards reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 20350728, 29363216; Phenotypes: OMIM 614874 Ciliary dyskinesia, primary, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAAF4 Matthew Edwards reviewed gene: DNAAF4: Rating: ; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: OMIM 615482 Ciliary dyskinesia, primary, 25; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAAF3 Matthew Edwards reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996; Phenotypes: OMIM 606763 Ciliary dyskinesia, primary, 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAAF2 Matthew Edwards reviewed gene: DNAAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19052621; Phenotypes: OMIM 612518 Ciliary dyskinesia, primary, 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 DNAAF1 Matthew Edwards reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19944405, 19944400, 18385425; Phenotypes: OMIM 613193 Ciliary dyskinesia, primary, 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 CFC1 Matthew Edwards reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11062482, 25423076; Phenotypes: OMIM 605376 Heterotaxy, visceral, 2, autosomal; Mode of inheritance: None
Laterality disorders and isomerism v0.51 CFAP53 Matthew Edwards reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 25504577, 22577226, 28621423, 26531781; Phenotypes: OMIM 614779 Heterotaxy, visceral, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 CCDC40 Matthew Edwards reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255504, 21131974; Phenotypes: OMIM 613808 Ciliary dyskinesia, primary, 15; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 CCDC39 Matthew Edwards reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972, 23255504; Phenotypes: OMIM 613807 Ciliary dyskinesia, primary, 14; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.51 RSPH4A Louise Daugherty Classified gene: RSPH4A as Red List (low evidence)
Laterality disorders and isomerism v0.51 RSPH4A Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.51 RSPH4A Louise Daugherty Gene: rsph4a has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.50 RSPH9 Louise Daugherty Classified gene: RSPH9 as Red List (low evidence)
Laterality disorders and isomerism v0.50 RSPH9 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.50 RSPH9 Louise Daugherty Gene: rsph9 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.49 RSPH3 Louise Daugherty Classified gene: RSPH3 as Red List (low evidence)
Laterality disorders and isomerism v0.49 RSPH3 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.49 RSPH3 Louise Daugherty Gene: rsph3 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.48 RSPH1 Louise Daugherty Classified gene: RSPH1 as Red List (low evidence)
Laterality disorders and isomerism v0.48 RSPH1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.48 RSPH1 Louise Daugherty Gene: rsph1 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.47 GAS8 Louise Daugherty Classified gene: GAS8 as Red List (low evidence)
Laterality disorders and isomerism v0.47 GAS8 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.47 GAS8 Louise Daugherty Gene: gas8 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.46 DRC1 Louise Daugherty Classified gene: DRC1 as Red List (low evidence)
Laterality disorders and isomerism v0.46 DRC1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.46 DRC1 Louise Daugherty Gene: drc1 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.45 CCNO Louise Daugherty Classified gene: CCNO as Red List (low evidence)
Laterality disorders and isomerism v0.45 CCNO Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.45 CCNO Louise Daugherty Gene: ccno has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.44 HYDIN Louise Daugherty Classified gene: HYDIN as Red List (low evidence)
Laterality disorders and isomerism v0.44 HYDIN Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.44 HYDIN Louise Daugherty Gene: hydin has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.43 DNAJB13 Louise Daugherty Classified gene: DNAJB13 as Red List (low evidence)
Laterality disorders and isomerism v0.43 DNAJB13 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.
Laterality disorders and isomerism v0.43 DNAJB13 Louise Daugherty Gene: dnajb13 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.42 Louise Daugherty List of related panels changed from to R139
Laterality disorders and isomerism v0.41 RSPH4A Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 RSPH9 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 RSPH9 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 RSPH3 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 RSPH1 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 GAS8 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 DRC1 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 CCNO Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 CCDC65 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 HYDIN Louise Daugherty changed review comment from: FFrom GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: FFrom GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 DNAJB13 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 DNAH1 Louise Daugherty edited their review of gene: DNAH1: Changed rating: AMBER
Laterality disorders and isomerism v0.41 DNAH1 Louise Daugherty Classified gene: DNAH1 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.41 DNAH1 Louise Daugherty Added comment: Comment on list classification: This gene was reviewed by the respiratory working group as part of the GMS. The evidence was considered sufficient only for an amber rating for PCD on the 'Respiratory ciliopathies including non-CF bronchiectasis' panel, as most homozygote knockouts have spermatogenic failure, no other PCD symptoms. PCD association is based on single pair of sisters with unvalidated missense, therefore as the phenotype is the same for both GMS panels, it was decided by the Genomics England clinical team to downgrade from Green to Amber, given it is the same phenotype associated with this gene, as the same GMS test group are overseeing both panels.
Laterality disorders and isomerism v0.41 DNAH1 Louise Daugherty Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.39 ACVR2B Louise Daugherty Phenotypes for gene: ACVR2B were changed from Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Laterality disorders and isomerism v0.38 CCDC151 Louise Daugherty Mode of inheritance for gene: CCDC151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.37 CCDC151 Louise Daugherty Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, 616037
Laterality disorders and isomerism v0.36 CCDC114 Louise Daugherty Mode of inheritance for gene: CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.35 CCDC114 Louise Daugherty Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, 615067
Laterality disorders and isomerism v0.34 CCDC103 Louise Daugherty Mode of inheritance for gene: CCDC103 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.33 CCDC103 Louise Daugherty Phenotypes for gene: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, 614679
Laterality disorders and isomerism v0.32 C21orf59 Louise Daugherty Mode of inheritance for gene: C21orf59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.31 C21orf59 Louise Daugherty Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, 615500
Laterality disorders and isomerism v0.30 C11orf70 Louise Daugherty Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.29 C11orf70 Louise Daugherty Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, 618063
Laterality disorders and isomerism v0.28 ARMC4 Louise Daugherty Phenotypes for gene: ARMC4 were changed from Ciliary dyskinesia, primary, 23, 615451 to Ciliary dyskinesia, primary, 23, 615451
Laterality disorders and isomerism v0.27 ARMC4 Louise Daugherty Phenotypes for gene: ARMC4 were changed from to Ciliary dyskinesia, primary, 23, 615451
Laterality disorders and isomerism v0.26 ARMC4 Louise Daugherty Mode of inheritance for gene: ARMC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.25 ACVR2B Louise Daugherty Phenotypes for gene: ACVR2B were changed from to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal
Laterality disorders and isomerism v0.24 ACVR2B Louise Daugherty Publications for gene: ACVR2B were set to
Laterality disorders and isomerism v0.23 ACVR2B Louise Daugherty Mode of inheritance for gene: ACVR2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v0.22 CCDC65 Louise Daugherty Classified gene: CCDC65 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.22 CCDC65 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber after review from GMS Respiratory Specialist Test Group webex call 18th Jan 2019 who noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.22 CCDC65 Louise Daugherty Gene: ccdc65 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.21 C21orf59 Louise Daugherty commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298
Laterality disorders and isomerism v0.21 C21orf59 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf59.
Laterality disorders and isomerism v0.21 C11orf70 Louise Daugherty Tag new-gene-name tag was added to gene: C11orf70.
Laterality disorders and isomerism v0.21 C11orf70 Louise Daugherty commented on gene: C11orf70: New HGNC approved gene symbol for C11orf70 is CFAP300
Laterality disorders and isomerism v0.21 DNAH9 Louise Daugherty Added comment: Comment on publications: Comment on publications: Added publication to support gene-disease association and rating of this gene to Green. 4 cases from 3 families & functional data.
Laterality disorders and isomerism v0.21 DNAH9 Louise Daugherty Publications for gene: DNAH9 were set to
Laterality disorders and isomerism v0.20 TTC25 Louise Daugherty commented on gene: TTC25: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : there are unpublished cases and functional evidence to support this gene to be rated as Green.
Laterality disorders and isomerism v0.20 PKD1L1 Louise Daugherty edited their review of gene: PKD1L1: Changed rating: AMBER
Laterality disorders and isomerism v0.20 PKD1L1 Louise Daugherty commented on gene: PKD1L1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Ian Berry to add supporting publications/MOI/Phenotype and confirm Amber or Green rating.
Laterality disorders and isomerism v0.20 RSPH4A Louise Daugherty edited their review of gene: RSPH4A: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 RSPH9 Louise Daugherty edited their review of gene: RSPH9: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 RSPH3 Louise Daugherty edited their review of gene: RSPH3: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 RSPH1 Louise Daugherty edited their review of gene: RSPH1: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 GAS8 Louise Daugherty edited their review of gene: GAS8: Changed rating: RED
Laterality disorders and isomerism v0.20 GAS8 Louise Daugherty commented on gene: GAS8: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.20 DRC1 Louise Daugherty edited their review of gene: DRC1: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 CCNO Louise Daugherty edited their review of gene: CCNO: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 CCDC65 Louise Daugherty edited their review of gene: CCDC65: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: AMBER
Laterality disorders and isomerism v0.20 HYDIN Louise Daugherty edited their review of gene: HYDIN: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO ,DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel.Hannah Mitchison to follow up with reference/confirm gens that should be downgraded to Red from Green.; Changed rating: RED
Laterality disorders and isomerism v0.20 DNAJB13 Louise Daugherty edited their review of gene: DNAJB13: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13,HYDIN,CCDC65,CCNO,DRC1,GAF8,RSPH1,RSPH3,RSPH9,RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel.Hannah Mitchison to follow up with reference/confirm gens that should be downgraded to Red from Green; Changed rating: RED
Laterality disorders and isomerism v0.20 C11orf70 Louise Daugherty commented on gene: C11orf70: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 Hannah Mitchison will add publications to support Green rating. Also need to add MOI and Phenotype to indicate relevance to inclusion.
Laterality disorders and isomerism v0.20 LRRC56 Louise Daugherty Added comment: Comment on phenotypes: added phenotypes
Laterality disorders and isomerism v0.20 LRRC56 Louise Daugherty Phenotypes for gene: LRRC56 were changed from to Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defe
Laterality disorders and isomerism v0.19 LRRC56 Louise Daugherty Mode of inheritance for gene: LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.18 CRELD1 Louise Daugherty Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
Laterality disorders and isomerism v0.17 CRELD1 Louise Daugherty edited their review of gene: CRELD1: Changed rating: AMBER
Laterality disorders and isomerism v0.17 CRELD1 Louise Daugherty Classified gene: CRELD1 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.17 CRELD1 Louise Daugherty Added comment: Comment on list classification: Changed to Amber until further evidence supplied from Ian Berry ( GMS Respiratory Specialist Test Group webex call 18th Jan 2019)
Laterality disorders and isomerism v0.17 CRELD1 Louise Daugherty Gene: creld1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.16 CRELD1 Louise Daugherty Mode of inheritance for gene: CRELD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v0.15 CRELD1 Louise Daugherty Publications for gene: CRELD1 were set to
Laterality disorders and isomerism v0.14 CRELD1 Louise Daugherty commented on gene: CRELD1: Review from Helen Brittain (Genomics England Curator) on the Familial non syndromic congenital heart disease panel 4 Jul 2017. Panel version: 1.8. Rating Amber. Comment on list classification: watchlist. 3/50 with AVSD found to have mutations, two isolated partial AVSD and one with heterotaxy. However it has also been postulated as a susceptibility locus. Further evidence of the role in AVSD is needed therefore considered amber. Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes :
Atrioventricular septal defect, partial, with heterotaxy syndrome, 2; Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217; Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2. Publictions: 12632326
Laterality disorders and isomerism v0.14 DNAH9 Anna de Burca Marked gene: DNAH9 as ready
Laterality disorders and isomerism v0.14 DNAH9 Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence).
Laterality disorders and isomerism v0.14 DNAH9 Anna de Burca Classified gene: DNAH9 as Green List (high evidence)
Laterality disorders and isomerism v0.14 DNAH9 Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence).
Laterality disorders and isomerism v0.13 DNAH9 Anna de Burca gene: DNAH9 was added
gene: DNAH9 was added to Laterality disorders and isomerism. Sources: Expert Review
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH9 were set to Primary ciliary dyskinesia
Review for gene: DNAH9 was set to GREEN
Added comment: Recent publication Fassad et al Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
https://www.sciencedirect.com/science/article/pii/S0002929718303689
reports two unrelated probands and a sibling pair with biallelic variants in DNAH9, as well as functional evidence that DNAH9 mutaitons affect ciliary function. All affected individuals had situs inversus.
Sources: Expert Review
Laterality disorders and isomerism v0.12 PKD1L1 Anna de Burca Classified gene: PKD1L1 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.12 PKD1L1 Anna de Burca Added comment: Comment on list classification: Rated as amber following discussion with NHS GMS respiratory specialist test group 18/01/19.
Laterality disorders and isomerism v0.12 PKD1L1 Anna de Burca Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.11 NME8 Anna de Burca Classified gene: NME8 as Red List (low evidence)
Laterality disorders and isomerism v0.11 NME8 Anna de Burca Gene: nme8 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.10 NME8 Anna de Burca reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID:17360648; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.10 LRRC56 Anna de Burca reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30388400; Phenotypes: Mucociliary Clearance and Laterality Defect; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.10 MMP21 Louise Daugherty Publications for gene: MMP21 were set to
Laterality disorders and isomerism v0.9 MMP21 Louise Daugherty commented on gene: MMP21: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator).Green List (high evidence). Comment when marking as ready: Sufficient evidence for causation of heterotaxy phenotype. Sufficient cases (9 in listed PMID) of heterotaxy / cardiac laterality defects. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Heterotaxy,visceral,7,autosomal, 616749. Publications 26437028.
Laterality disorders and isomerism v0.9 CFC1 Louise Daugherty Publications for gene: CFC1 were set to
Laterality disorders and isomerism v0.8 CFC1 Louise Daugherty edited their review of gene: CFC1: Added comment: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient evidence in relation to heterotaxy phenotype. Therefore promoted to green. Three (/?four) unrelated laterality cases with two LOF mutations in listed PMID. Considered sufficient cases for inclusion. Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy, visceral, 2, autosomal, 605376; Visceral Heterotaxy, Heterotaxy, Visceral, 2, Autosomal. Publications: 11062482.; Changed publications: 11062482
Laterality disorders and isomerism v0.8 CFAP53 Louise Daugherty Publications for gene: CFAP53 were set to
Laterality disorders and isomerism v0.7 CFAP53 Louise Daugherty commented on gene: CFAP53: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient cases for inclusion regarding laterality phenotype. 4 separate families identified in the three PMIDs with laterality defects (one was an inferred exon 3 deletion) plus evidence of role in motile ciliary organ in zebrafish as supporting evidence. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Visceral Heterotaxy; Heterotaxy, Visceral, 6, Autosomal. Publications: 26531781, 22577226, 25504577
Laterality disorders and isomerism v0.7 ZIC3 Louise Daugherty Publications for gene: ZIC3 were set to
Laterality disorders and isomerism v0.6 ZIC3 Louise Daugherty commented on gene: ZIC3: Review on panel: Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Helen Brittain (Genomics England Curator). Green List (high evidence). Review: >5 families with situs abnormalities in listed PMID. Evidence for causation of heterotaxy. Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females. Phenotypes: x-linked Heterotaxy syndrome, Visceral, 1; Heterotaxy, visceral, 1, X-linked 306955; Visceral Heterotaxy; Heterotaxy, Visceral, 1, X-Linked. Publications: 9354794
Laterality disorders and isomerism v0.6 NODAL Louise Daugherty Publications for gene: NODAL were set to
Laterality disorders and isomerism v0.5 NODAL Louise Daugherty edited their review of gene: NODAL: Added comment: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). In 14/269 cases with heterotaxy and or cardiovascular malformations, mutations identified in listed PMID. Mutations included missense, splice site and an in-frame indel.
Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy syndrome; Heterotaxy, visceral, 5, 270100; Visceral Heterotaxy; Heterotaxy, Visceral, 5, Autosomal. Publications: 19064609; Changed publications: 19064609
Laterality disorders and isomerism v0.5 LRRC56 Louise Daugherty Publications for gene: LRRC56 were set to
Laterality disorders and isomerism v0.4 ACVR2B Louise Daugherty edited their review of gene: ACVR2B: Changed publications: 9916847
Laterality disorders and isomerism v0.4 ACVR2B Louise Daugherty commented on gene: ACVR2B: From review 4 Jul 2017, 7:24 a.m. Panel Name Familial non syndromic congenital heart disease. Panel version: 1.8 Helen Brittain (Genomics England Curator)
Green List (high evidence)
Three unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrialisomerism in PMID:9916847.
4 Jul 2017, 7:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751; Visceral Heterotaxy; Heterotaxy, Visceral, 4, Autosomal
Publications: 9916847
Laterality disorders and isomerism v0.3 ZMYND10 Louise Daugherty Source Expert Review Green was added to ZMYND10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 ZIC3 Louise Daugherty Source Expert Review Green was added to ZIC3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 TTC25 Louise Daugherty Source Expert Review Green was added to TTC25.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 SPAG1 Louise Daugherty Source Expert Review Green was added to SPAG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 RSPH9 Louise Daugherty Source Expert Review Green was added to RSPH9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 RSPH4A Louise Daugherty Source Expert Review Green was added to RSPH4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 RSPH3 Louise Daugherty Source Expert Review Green was added to RSPH3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 RSPH1 Louise Daugherty Source Expert Review Green was added to RSPH1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 PKD1L1 Louise Daugherty Source Expert Review Green was added to PKD1L1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 PIH1D3 Louise Daugherty Source Expert Review Green was added to PIH1D3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 NSD2 Louise Daugherty Source Expert Review Red was added to NSD2.
Laterality disorders and isomerism v0.3 NPHP4 Louise Daugherty Source Expert Review Amber was added to NPHP4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 NODAL Louise Daugherty Source Expert Review Green was added to NODAL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 NME8 Louise Daugherty Source Expert Review Green was added to NME8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 NKX2-5 Louise Daugherty Source Expert Review Amber was added to NKX2-5.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 MYH6 Louise Daugherty Source Expert Review Amber was added to MYH6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 MMP21 Louise Daugherty Source Expert Review Green was added to MMP21.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 LZTFL1 Louise Daugherty Source Expert Review Amber was added to LZTFL1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 LRRC6 Louise Daugherty Source Expert Review Green was added to LRRC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 LRRC56 Louise Daugherty Source Expert Review Green was added to LRRC56.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 LETM1 Louise Daugherty Source Expert Review Red was added to LETM1.
Laterality disorders and isomerism v0.3 HYDIN Louise Daugherty Source Expert Review Green was added to HYDIN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 GDF1 Louise Daugherty Source Expert Review Green was added to GDF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 GAS8 Louise Daugherty Source Expert Review Green was added to GAS8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 FANCB Louise Daugherty Source Expert Review Amber was added to FANCB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 DRC1 Louise Daugherty Source Expert Review Green was added to DRC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAL1 Louise Daugherty Source Expert Review Green was added to DNAL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAJB13 Louise Daugherty Source Expert Review Green was added to DNAJB13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAI2 Louise Daugherty Source Expert Review Green was added to DNAI2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAI1 Louise Daugherty Source Expert Review Green was added to DNAI1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAH8 Louise Daugherty Source Expert Review Amber was added to DNAH8.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 DNAH5 Louise Daugherty Source Expert Review Green was added to DNAH5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAH11 Louise Daugherty Source Expert Review Green was added to DNAH11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAH1 Louise Daugherty Source Expert Review Green was added to DNAH1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF5 Louise Daugherty Source Expert Review Green was added to DNAAF5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF4 Louise Daugherty Source Expert Review Green was added to DNAAF4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF3 Louise Daugherty Source Expert Review Green was added to DNAAF3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF2 Louise Daugherty Source Expert Review Green was added to DNAAF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF1 Louise Daugherty Source Expert Review Green was added to DNAAF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CRELD1 Louise Daugherty Source Expert Review Green was added to CRELD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CFC1 Louise Daugherty Source Expert Review Green was added to CFC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CFAP53 Louise Daugherty Source Expert Review Green was added to CFAP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 C11orf70 Louise Daugherty Source Expert Review Green was added to C11orf70.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCNO Louise Daugherty Source Expert Review Green was added to CCNO.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC65 Louise Daugherty Source Expert Review Green was added to CCDC65.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC40 Louise Daugherty Source Expert Review Green was added to CCDC40.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC39 Louise Daugherty Source Expert Review Green was added to CCDC39.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC151 Louise Daugherty Source Expert Review Green was added to CCDC151.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC114 Louise Daugherty Source Expert Review Green was added to CCDC114.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC103 Louise Daugherty Source Expert Review Green was added to CCDC103.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 C21orf59 Louise Daugherty Source Expert Review Green was added to C21orf59.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 ARMC4 Louise Daugherty Source Expert Review Green was added to ARMC4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 ACVR2B Louise Daugherty Source Expert Review Green was added to ACVR2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 ACTG2 Louise Daugherty Source Expert Review Amber was added to ACTG2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 ACTC1 Louise Daugherty Source Expert Review Amber was added to ACTC1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.2 ZMYND10 Louise Daugherty reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 ZIC3 Louise Daugherty reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 TTC25 Louise Daugherty reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 SPAG1 Louise Daugherty reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 RSPH9 Louise Daugherty reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 RSPH4A Louise Daugherty reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 RSPH3 Louise Daugherty reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 RSPH1 Louise Daugherty reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 PKD1L1 Louise Daugherty reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 PIH1D3 Louise Daugherty reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 NSD2 Louise Daugherty reviewed gene: NSD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 NPHP4 Louise Daugherty reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 NODAL Louise Daugherty reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 NME8 Louise Daugherty reviewed gene: NME8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 NKX2-5 Louise Daugherty reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 MYH6 Louise Daugherty reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 MMP21 Louise Daugherty reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 LZTFL1 Louise Daugherty reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 LRRC6 Louise Daugherty reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 LRRC56 Louise Daugherty reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 LETM1 Louise Daugherty reviewed gene: LETM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 HYDIN Louise Daugherty reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 GDF1 Louise Daugherty reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 GAS8 Louise Daugherty reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 FANCB Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DRC1 Louise Daugherty reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAL1 Louise Daugherty reviewed gene: DNAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAJB13 Louise Daugherty reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAI2 Louise Daugherty reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAI1 Louise Daugherty reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAH8 Louise Daugherty reviewed gene: DNAH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAH5 Louise Daugherty reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAH11 Louise Daugherty reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAH1 Louise Daugherty reviewed gene: DNAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAAF5 Louise Daugherty reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAAF4 Louise Daugherty reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAAF3 Louise Daugherty reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAAF2 Louise Daugherty reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 DNAAF1 Louise Daugherty reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CRELD1 Louise Daugherty reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CFC1 Louise Daugherty reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CFAP53 Louise Daugherty reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CCNO Louise Daugherty reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CCDC65 Louise Daugherty reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CCDC40 Louise Daugherty reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CCDC39 Louise Daugherty reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CCDC151 Louise Daugherty reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CCDC114 Louise Daugherty reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 CCDC103 Louise Daugherty reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 C21orf59 Louise Daugherty reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 C11orf70 Louise Daugherty reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 ARMC4 Louise Daugherty reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 ACVR2B Louise Daugherty reviewed gene: ACVR2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 ACTG2 Louise Daugherty reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.2 ACTC1 Louise Daugherty reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.1 ZMYND10 Louise Daugherty gene: ZMYND10 was added
gene: ZMYND10 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: ZMYND10 was set to
Laterality disorders and isomerism v0.1 ZIC3 Louise Daugherty gene: ZIC3 was added
gene: ZIC3 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: ZIC3 was set to
Laterality disorders and isomerism v0.1 TTC25 Louise Daugherty gene: TTC25 was added
gene: TTC25 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: TTC25 was set to
Laterality disorders and isomerism v0.1 SPAG1 Louise Daugherty gene: SPAG1 was added
gene: SPAG1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: SPAG1 was set to
Laterality disorders and isomerism v0.1 RSPH9 Louise Daugherty gene: RSPH9 was added
gene: RSPH9 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: RSPH9 was set to
Laterality disorders and isomerism v0.1 RSPH4A Louise Daugherty gene: RSPH4A was added
gene: RSPH4A was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: RSPH4A was set to
Laterality disorders and isomerism v0.1 RSPH3 Louise Daugherty gene: RSPH3 was added
gene: RSPH3 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: RSPH3 was set to
Laterality disorders and isomerism v0.1 RSPH1 Louise Daugherty gene: RSPH1 was added
gene: RSPH1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: RSPH1 was set to
Laterality disorders and isomerism v0.1 PKD1L1 Louise Daugherty gene: PKD1L1 was added
gene: PKD1L1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: PKD1L1 was set to
Laterality disorders and isomerism v0.1 PIH1D3 Louise Daugherty gene: PIH1D3 was added
gene: PIH1D3 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: PIH1D3 was set to
Laterality disorders and isomerism v0.1 NSD2 Louise Daugherty gene: NSD2 was added
gene: NSD2 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: NSD2 was set to
Laterality disorders and isomerism v0.1 NPHP4 Louise Daugherty gene: NPHP4 was added
gene: NPHP4 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: NPHP4 was set to
Laterality disorders and isomerism v0.1 NODAL Louise Daugherty gene: NODAL was added
gene: NODAL was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: NODAL was set to
Laterality disorders and isomerism v0.1 NME8 Louise Daugherty gene: NME8 was added
gene: NME8 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: NME8 was set to
Laterality disorders and isomerism v0.1 NKX2-5 Louise Daugherty gene: NKX2-5 was added
gene: NKX2-5 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: NKX2-5 was set to
Laterality disorders and isomerism v0.1 MYH6 Louise Daugherty gene: MYH6 was added
gene: MYH6 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: MYH6 was set to
Laterality disorders and isomerism v0.1 MMP21 Louise Daugherty gene: MMP21 was added
gene: MMP21 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: MMP21 was set to
Laterality disorders and isomerism v0.1 LZTFL1 Louise Daugherty gene: LZTFL1 was added
gene: LZTFL1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: LZTFL1 was set to
Laterality disorders and isomerism v0.1 LRRC6 Louise Daugherty gene: LRRC6 was added
gene: LRRC6 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: LRRC6 was set to
Laterality disorders and isomerism v0.1 LRRC56 Louise Daugherty gene: LRRC56 was added
gene: LRRC56 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: LRRC56 was set to
Laterality disorders and isomerism v0.1 LETM1 Louise Daugherty gene: LETM1 was added
gene: LETM1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: LETM1 was set to
Laterality disorders and isomerism v0.1 HYDIN Louise Daugherty gene: HYDIN was added
gene: HYDIN was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: HYDIN was set to
Laterality disorders and isomerism v0.1 GDF1 Louise Daugherty gene: GDF1 was added
gene: GDF1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: GDF1 was set to
Laterality disorders and isomerism v0.1 GAS8 Louise Daugherty gene: GAS8 was added
gene: GAS8 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: GAS8 was set to
Laterality disorders and isomerism v0.1 FANCB Louise Daugherty gene: FANCB was added
gene: FANCB was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: FANCB was set to
Laterality disorders and isomerism v0.1 DRC1 Louise Daugherty gene: DRC1 was added
gene: DRC1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DRC1 was set to
Laterality disorders and isomerism v0.1 DNAL1 Louise Daugherty gene: DNAL1 was added
gene: DNAL1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAL1 was set to
Laterality disorders and isomerism v0.1 DNAJB13 Louise Daugherty gene: DNAJB13 was added
gene: DNAJB13 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAJB13 was set to
Laterality disorders and isomerism v0.1 DNAI2 Louise Daugherty gene: DNAI2 was added
gene: DNAI2 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAI2 was set to
Laterality disorders and isomerism v0.1 DNAI1 Louise Daugherty gene: DNAI1 was added
gene: DNAI1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAI1 was set to
Laterality disorders and isomerism v0.1 DNAH8 Louise Daugherty gene: DNAH8 was added
gene: DNAH8 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAH8 was set to
Laterality disorders and isomerism v0.1 DNAH5 Louise Daugherty gene: DNAH5 was added
gene: DNAH5 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAH5 was set to
Laterality disorders and isomerism v0.1 DNAH11 Louise Daugherty gene: DNAH11 was added
gene: DNAH11 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAH11 was set to
Laterality disorders and isomerism v0.1 DNAH1 Louise Daugherty gene: DNAH1 was added
gene: DNAH1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAH1 was set to
Laterality disorders and isomerism v0.1 DNAAF5 Louise Daugherty gene: DNAAF5 was added
gene: DNAAF5 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAAF5 was set to
Laterality disorders and isomerism v0.1 DNAAF4 Louise Daugherty gene: DNAAF4 was added
gene: DNAAF4 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAAF4 was set to
Laterality disorders and isomerism v0.1 DNAAF3 Louise Daugherty gene: DNAAF3 was added
gene: DNAAF3 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAAF3 was set to
Laterality disorders and isomerism v0.1 DNAAF2 Louise Daugherty gene: DNAAF2 was added
gene: DNAAF2 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAAF2 was set to
Laterality disorders and isomerism v0.1 DNAAF1 Louise Daugherty gene: DNAAF1 was added
gene: DNAAF1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: DNAAF1 was set to
Laterality disorders and isomerism v0.1 CRELD1 Louise Daugherty gene: CRELD1 was added
gene: CRELD1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CRELD1 was set to
Laterality disorders and isomerism v0.1 CFC1 Louise Daugherty gene: CFC1 was added
gene: CFC1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CFC1 was set to
Laterality disorders and isomerism v0.1 CFAP53 Louise Daugherty gene: CFAP53 was added
gene: CFAP53 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CFAP53 was set to
Laterality disorders and isomerism v0.1 CCNO Louise Daugherty gene: CCNO was added
gene: CCNO was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CCNO was set to
Laterality disorders and isomerism v0.1 CCDC65 Louise Daugherty gene: CCDC65 was added
gene: CCDC65 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CCDC65 was set to
Laterality disorders and isomerism v0.1 CCDC40 Louise Daugherty gene: CCDC40 was added
gene: CCDC40 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CCDC40 was set to
Laterality disorders and isomerism v0.1 CCDC39 Louise Daugherty gene: CCDC39 was added
gene: CCDC39 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CCDC39 was set to
Laterality disorders and isomerism v0.1 CCDC151 Louise Daugherty gene: CCDC151 was added
gene: CCDC151 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CCDC151 was set to
Laterality disorders and isomerism v0.1 CCDC114 Louise Daugherty gene: CCDC114 was added
gene: CCDC114 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CCDC114 was set to
Laterality disorders and isomerism v0.1 CCDC103 Louise Daugherty gene: CCDC103 was added
gene: CCDC103 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: CCDC103 was set to
Laterality disorders and isomerism v0.1 C21orf59 Louise Daugherty gene: C21orf59 was added
gene: C21orf59 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: C21orf59 was set to
Laterality disorders and isomerism v0.1 C11orf70 Louise Daugherty gene: C11orf70 was added
gene: C11orf70 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: C11orf70 was set to
Laterality disorders and isomerism v0.1 ARMC4 Louise Daugherty gene: ARMC4 was added
gene: ARMC4 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: ARMC4 was set to
Laterality disorders and isomerism v0.1 ACVR2B Louise Daugherty gene: ACVR2B was added
gene: ACVR2B was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: ACVR2B was set to
Laterality disorders and isomerism v0.1 ACTG2 Louise Daugherty gene: ACTG2 was added
gene: ACTG2 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: ACTG2 was set to
Laterality disorders and isomerism v0.1 ACTC1 Louise Daugherty gene: ACTC1 was added
gene: ACTC1 was added to Laterality disorders and isomerism. Sources: NHS GMS
Mode of inheritance for gene: ACTC1 was set to
Laterality disorders and isomerism v0.0 Ellen McDonagh Added Panel Laterality disorders and isomerism
Set panel types to: GMS Rare Disease