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Heterotaxy v1.36 C1orf127 Zornitza Stark Marked gene: C1orf127 as ready
Heterotaxy v1.36 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Heterotaxy v1.36 C1orf127 Zornitza Stark Classified gene: C1orf127 as Green List (high evidence)
Heterotaxy v1.36 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Heterotaxy v1.35 C1orf127 Zornitza Stark Tag new gene name tag was added to gene: C1orf127.
Heterotaxy v1.35 C1orf127 Zornitza Stark gene: C1orf127 was added
gene: C1orf127 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf127 were set to 39753129
Phenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related
Review for gene: C1orf127 was set to GREEN
Added comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies.

Approved HGNC name is CIROZ.
Sources: Literature
Heterotaxy v1.34 DAND5 Zornitza Stark Marked gene: DAND5 as ready
Heterotaxy v1.34 DAND5 Zornitza Stark Gene: dand5 has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.34 DAND5 Zornitza Stark Classified gene: DAND5 as Amber List (moderate evidence)
Heterotaxy v1.34 DAND5 Zornitza Stark Gene: dand5 has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.33 DAND5 Zornitza Stark gene: DAND5 was added
gene: DAND5 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAND5 were set to 36316122; 34215651
Phenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal, MIM# 621079
Review for gene: DAND5 was set to AMBER
Added comment: Two individuals reported with bi-allelic LoF variants and heterotaxy.
Sources: Literature
Heterotaxy v1.32 DNAH6 Seb Lunke reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: None; Publications: 34215651; Phenotypes: situs inversus, MONDO:0010029, transposition of the great arteries, MONDO:0000153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Heterotaxy v1.32 ARL2BP Andrew Fennell reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38649918, 36507858; Phenotypes: Retinitis pigmentosa with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v1.32 CCDC114 Zornitza Stark Tag new gene name tag was added to gene: CCDC114.
Heterotaxy v1.32 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Heterotaxy v1.32 CCDC151 Zornitza Stark Tag new gene name tag was added to gene: CCDC151.
Heterotaxy v1.32 TTC25 Zornitza Stark Tag new gene name tag was added to gene: TTC25.
Heterotaxy v1.32 EFCAB1 Zornitza Stark Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related to Ciliary dyskinesia, primary, 53, MIM# 620642
Heterotaxy v1.31 EFCAB1 Zornitza Stark Tag new gene name tag was added to gene: EFCAB1.
Heterotaxy v1.31 EFCAB1 Zornitza Stark reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 53, MIM# 620642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v1.31 DAW1 Zornitza Stark Phenotypes for gene: DAW1 were changed from Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677 to Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570
Heterotaxy v1.30 DAW1 Zornitza Stark reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v1.30 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Heterotaxy v1.29 EFCAB1 Zornitza Stark Marked gene: EFCAB1 as ready
Heterotaxy v1.29 EFCAB1 Zornitza Stark Gene: efcab1 has been classified as Green List (High Evidence).
Heterotaxy v1.29 EFCAB1 Zornitza Stark Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia and heterotaxy, no OMIM # to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related
Heterotaxy v1.28 EFCAB1 Chirag Patel Classified gene: EFCAB1 as Green List (high evidence)
Heterotaxy v1.28 EFCAB1 Chirag Patel Gene: efcab1 has been classified as Green List (High Evidence).
Heterotaxy v1.27 EFCAB1 Chirag Patel gene: EFCAB1 was added
gene: EFCAB1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFCAB1 were set to PMID: 36727596
Phenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia and heterotaxy, no OMIM #
Review for gene: EFCAB1 was set to GREEN
Added comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility.
Sources: Literature
Heterotaxy v1.26 Zornitza Stark HPO terms changed from to Heterotaxy, HP:0030853; Dextrocardia, HP:0001651; Asplenia, HP:0001746; Abnormal spatial orientation of cardiac segments, HP:0011534; Polysplenia, HP:0001748;Midline liver, HP:0034188
List of related panels changed from to Heterotaxy; HP:0030853; Dextrocardia; HP:0001651; Asplenia; HP:0001746; Abnormal spatial orientation of cardiac segments; HP:0011534; Polysplenia; HP:0001748;Midline liver; HP:0034188
Heterotaxy v1.25 DAW1 Alison Yeung Marked gene: DAW1 as ready
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Heterotaxy v1.25 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Heterotaxy v1.25 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Heterotaxy v1.24 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Heterotaxy v1.24 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Heterotaxy v1.23 NODAL Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609
Heterotaxy v1.22 NODAL Zornitza Stark Mode of inheritance for gene: NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Heterotaxy v1.21 NODAL Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence)
Heterotaxy v1.21 NODAL Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.20 NODAL Zornitza Stark reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: None; Publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Heterotaxy v1.20 DNAH9 Zornitza Stark reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 35116053, 35050399; Phenotypes: Ciliary dyskinesia, primary, 40 618300, Heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v1.20 TTC25 Zornitza Stark Publications for gene: TTC25 were set to 27486780
Heterotaxy v1.19 TTC25 Zornitza Stark Classified gene: TTC25 as Green List (high evidence)
Heterotaxy v1.19 TTC25 Zornitza Stark Gene: ttc25 has been classified as Green List (High Evidence).
Heterotaxy v1.18 TTC25 Zornitza Stark edited their review of gene: TTC25: Added comment: At least 7 families reported now.; Changed rating: GREEN; Changed publications: 27486780, 31765523, 33715250, 33746037, 34215651
Heterotaxy v1.18 ARL2BP Elena Savva Classified gene: ARL2BP as Amber List (moderate evidence)
Heterotaxy v1.18 ARL2BP Elena Savva Gene: arl2bp has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.17 ARL2BP Elena Savva Classified gene: ARL2BP as Amber List (moderate evidence)
Heterotaxy v1.17 ARL2BP Elena Savva Gene: arl2bp has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.17 ARL2BP Elena Savva Classified gene: ARL2BP as Amber List (moderate evidence)
Heterotaxy v1.17 ARL2BP Elena Savva Gene: arl2bp has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.16 ARL2BP Elena Savva Marked gene: ARL2BP as ready
Heterotaxy v1.16 ARL2BP Elena Savva Gene: arl2bp has been classified as Red List (Low Evidence).
Heterotaxy v1.16 ARL2BP Elena Savva gene: ARL2BP was added
gene: ARL2BP was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL2BP were set to PMID: 23849777
Phenotypes for gene: ARL2BP were set to Retinitis pigmentosa with or without situs inversus MIM#615434
Review for gene: ARL2BP was set to AMBER
Added comment: PMID: 23849777 - Two families with retinitis pigmentosa and situs inversus, with a homozygous missense or canonical splice variant. Missense variant shown to affect ARL2 binding, RT-PCR of patient blood proved the splice variant to result in multiple transcripts but all resulting in a fs and PTC.
Sources: Literature
Heterotaxy v1.15 AL117258.1 Zornitza Stark Marked gene: AL117258.1 as ready
Heterotaxy v1.15 AL117258.1 Zornitza Stark Gene: al117258.1 has been classified as Green List (High Evidence).
Heterotaxy v1.15 AL117258.1 Zornitza Stark Phenotypes for gene: AL117258.1 were changed from Heterotaxy, MONDO:0018677; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects
Heterotaxy v1.15 AL117258.1 Zornitza Stark Phenotypes for gene: AL117258.1 were changed from Heterotaxy; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects
Heterotaxy v1.14 AL117258.1 Zornitza Stark Classified gene: AL117258.1 as Green List (high evidence)
Heterotaxy v1.14 AL117258.1 Zornitza Stark Gene: al117258.1 has been classified as Green List (High Evidence).
Heterotaxy v1.13 AL117258.1 Melanie Marty gene: AL117258.1 was added
gene: AL117258.1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AL117258.1 were set to 34903892
Phenotypes for gene: AL117258.1 were set to Heterotaxy; congenital heart defects
Review for gene: AL117258.1 was set to GREEN
Added comment: Gene also known as CIROP and LMLN2

Homozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy.

Functional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers.
Sources: Literature
Heterotaxy v1.13 CCDC65 Zornitza Stark Classified gene: CCDC65 as Red List (low evidence)
Heterotaxy v1.13 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Red List (Low Evidence).
Heterotaxy v1.12 CCDC65 Zornitza Stark changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.

Situs inversus not reported.
Heterotaxy v1.12 CCDC65 Zornitza Stark edited their review of gene: CCDC65: Changed rating: RED
Heterotaxy v1.12 CFAP45 Zornitza Stark Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Heterotaxy v1.11 CFAP45 Zornitza Stark edited their review of gene: CFAP45: Changed phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Heterotaxy v1.11 CFAP52 Zornitza Stark Phenotypes for gene: CFAP52 were changed from Heterotaxy to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Heterotaxy v1.10 CFAP52 Zornitza Stark edited their review of gene: CFAP52: Changed phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Heterotaxy v1.10 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Heterotaxy v1.10 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Heterotaxy v1.10 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21B were set to 33547761
Phenotypes for gene: TTC21B were set to Heterotaxy
Review for gene: TTC21B was set to RED
Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies.

Single family reported with two sibs, heterotaxy, and bi-allelic variants in this gene. One sib has additional ciliopathy features.
Sources: Literature
Heterotaxy v1.9 BCL9L Zornitza Stark Marked gene: BCL9L as ready
Heterotaxy v1.9 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.9 BCL9L Zornitza Stark Publications for gene: BCL9L were set to 23035047; 8757136
Heterotaxy v1.9 BCL9L Zornitza Stark Classified gene: BCL9L as Amber List (moderate evidence)
Heterotaxy v1.9 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.8 BCL9L Zornitza Stark reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30366904; Phenotypes: Congenital heart defects; Mode of inheritance: None
Heterotaxy v1.8 BCL9L Krithika Murali gene: BCL9L was added
gene: BCL9L was added to Heterotaxy. Sources: Expert list,Literature,Other
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047; 8757136
Phenotypes for gene: BCL9L were set to Heterotaxy; Congenital Heart Disease
Review for gene: BCL9L was set to AMBER
Added comment: Novel gene disease association. Saunders et al., 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents. Functional evidence in zebrafish (PMID 8757136)
Sources: Expert list, Literature, Other
Heterotaxy v1.8 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436
Heterotaxy v1.7 STK36 Zornitza Stark edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436
Heterotaxy v1.7 DNAH2 Zornitza Stark Marked gene: DNAH2 as ready
Heterotaxy v1.7 DNAH2 Zornitza Stark Gene: dnah2 has been classified as Red List (Low Evidence).
Heterotaxy v1.7 DNAH2 Zornitza Stark gene: DNAH2 was added
gene: DNAH2 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH2 were set to 32732226
Phenotypes for gene: DNAH2 were set to Hydrops; complex congenital heart disease; heterotaxy
Review for gene: DNAH2 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found by exome sequencing.
Sources: Literature
Heterotaxy v1.6 CFAP52 Zornitza Stark Marked gene: CFAP52 as ready
Heterotaxy v1.6 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Heterotaxy v1.6 CFAP52 Zornitza Stark Classified gene: CFAP52 as Green List (high evidence)
Heterotaxy v1.6 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Heterotaxy v1.5 CFAP52 Zornitza Stark gene: CFAP52 was added
gene: CFAP52 was added to Heterotaxy. 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
Heterotaxy v1.4 CFAP45 Zornitza Stark Marked gene: CFAP45 as ready
Heterotaxy v1.4 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.4 CFAP45 Zornitza Stark Classified gene: CFAP45 as Green List (high evidence)
Heterotaxy v1.4 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.3 CFAP45 Zornitza Stark Classified gene: CFAP45 as Green List (high evidence)
Heterotaxy v1.3 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.2 CFAP45 Zornitza Stark gene: CFAP45 was added
gene: CFAP45 was added to Heterotaxy. 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
Heterotaxy v1.1 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM#618699; Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Heterotaxy v1.0 FOXJ1 Zornitza Stark edited their review of gene: FOXJ1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Heterotaxy v1.0 FOXJ1 Zornitza Stark reviewed gene: FOXJ1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 43, MIM#618699; Mode of inheritance: None
Heterotaxy v1.0 Zornitza Stark promoted panel to version 1.0
Heterotaxy v0.161 ZMYND10 Zornitza Stark reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891471, 23891469; Phenotypes: Ciliary dyskinesia, primary, 22, MIM#615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.161 HYDIN Zornitza Stark Marked gene: HYDIN as ready
Heterotaxy v0.161 HYDIN Zornitza Stark Gene: hydin has been classified as Red List (Low Evidence).
Heterotaxy v0.161 HYDIN Zornitza Stark Phenotypes for gene: HYDIN were changed from to Ciliary dyskinesia, primary, 5 (MIM#08647)
Heterotaxy v0.160 SPAG1 Zornitza Stark changed review comment from: At least 5 unrelated families reported.; to: At least 15 unrelated families reported.
Heterotaxy v0.160 SPAG1 Zornitza Stark Marked gene: SPAG1 as ready
Heterotaxy v0.160 SPAG1 Zornitza Stark Gene: spag1 has been classified as Green List (High Evidence).
Heterotaxy v0.160 SPAG1 Zornitza Stark Phenotypes for gene: SPAG1 were changed from to Ciliary dyskinesia, primary, 28 (MIM#615505)
Heterotaxy v0.159 SPAG1 Zornitza Stark Publications for gene: SPAG1 were set to
Heterotaxy v0.158 SPAG1 Zornitza Stark Mode of inheritance for gene: SPAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.157 SPAG1 Zornitza Stark reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112, 32622824, 32502479; Phenotypes: Ciliary dyskinesia, primary, 28 (MIM#615505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.157 HYDIN Zornitza Stark Publications for gene: HYDIN were set to
Heterotaxy v0.156 HYDIN Zornitza Stark Mode of inheritance for gene: HYDIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.155 HYDIN Zornitza Stark Classified gene: HYDIN as Red List (low evidence)
Heterotaxy v0.155 HYDIN Zornitza Stark Gene: hydin has been classified as Red List (Low Evidence).
Heterotaxy v0.154 MMP21 Zornitza Stark Marked gene: MMP21 as ready
Heterotaxy v0.154 MMP21 Zornitza Stark Gene: mmp21 has been classified as Green List (High Evidence).
Heterotaxy v0.154 MMP21 Zornitza Stark Phenotypes for gene: MMP21 were changed from to Heterotaxy, visceral, 7, autosomal,MIM# 616749
Heterotaxy v0.153 MMP21 Zornitza Stark Publications for gene: MMP21 were set to
Heterotaxy v0.152 MMP21 Zornitza Stark Mode of inheritance for gene: MMP21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.151 MMP21 Zornitza Stark reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: 26429889, 26437028, 26437029; Phenotypes: Heterotaxy, visceral, 7, autosomal,MIM# 616749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.151 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Heterotaxy v0.151 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Green List (High Evidence).
Heterotaxy v0.151 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from to Ciliary dyskinesia, primary, 13, MIM# 613193
Heterotaxy v0.150 DNAAF1 Zornitza Stark Publications for gene: DNAAF1 were set to
Heterotaxy v0.149 DNAAF1 Zornitza Stark Mode of inheritance for gene: DNAAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.148 DNAAF1 Zornitza Stark reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19944400, 19944405, 32502479, 29228333, 27261005; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.147 LRRC6 Zornitza Stark Marked gene: LRRC6 as ready
Heterotaxy v0.147 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Green List (High Evidence).
Heterotaxy v0.147 LRRC6 Zornitza Stark Phenotypes for gene: LRRC6 were changed from to Ciliary dyskinesia, primary, 19, MIM# 614935
Heterotaxy v0.146 LRRC6 Zornitza Stark Publications for gene: LRRC6 were set to
Heterotaxy v0.145 LRRC6 Zornitza Stark Mode of inheritance for gene: LRRC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.144 LRRC6 Zornitza Stark reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122589, 23891469, 32622824, 29511670; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.144 DNAI2 Zornitza Stark Marked gene: DNAI2 as ready
Heterotaxy v0.144 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Heterotaxy v0.144 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444
Heterotaxy v0.143 DNAI2 Zornitza Stark Publications for gene: DNAI2 were set to
Heterotaxy v0.142 DNAI2 Zornitza Stark Mode of inheritance for gene: DNAI2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.141 DNAI2 Zornitza Stark Mode of inheritance for gene: DNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.140 DNAI2 Zornitza Stark reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18950741, 23261302; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.140 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Heterotaxy v0.140 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Green List (High Evidence).
Heterotaxy v0.140 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Heterotaxy v0.139 DNAI1 Zornitza Stark Publications for gene: DNAI1 were set to
Heterotaxy v0.138 DNAI1 Zornitza Stark Mode of inheritance for gene: DNAI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.137 DNAI1 Zornitza Stark reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577904, 11231901, 32502479, 31765523, 30622330; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.137 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Heterotaxy v0.137 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Heterotaxy v0.137 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Heterotaxy v0.136 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to
Heterotaxy v0.135 DNAH11 Zornitza Stark Mode of inheritance for gene: DNAH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.134 DNAH11 Zornitza Stark reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 12142464, 18022865, 22102620, 32633470, 31879361, 31765523, 31040315; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.134 DNAAF5 Zornitza Stark Marked gene: DNAAF5 as ready
Heterotaxy v0.134 DNAAF5 Zornitza Stark Gene: dnaaf5 has been classified as Green List (High Evidence).
Heterotaxy v0.134 DNAAF5 Zornitza Stark Phenotypes for gene: DNAAF5 were changed from to Ciliary dyskinesia, primary, 18, MIM# 614874
Heterotaxy v0.133 DNAAF5 Zornitza Stark Publications for gene: DNAAF5 were set to
Heterotaxy v0.132 DNAAF5 Zornitza Stark Mode of inheritance for gene: DNAAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.131 DNAAF5 Zornitza Stark reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 29363216, 25232951; Phenotypes: Ciliary dyskinesia, primary, 18, MIM# 614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.131 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Heterotaxy v0.131 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Heterotaxy v0.131 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from to Ciliary dyskinesia, primary, 2, MIM# 606763
Heterotaxy v0.130 DNAAF3 Zornitza Stark Publications for gene: DNAAF3 were set to
Heterotaxy v0.129 DNAAF3 Zornitza Stark Mode of inheritance for gene: DNAAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.128 DNAAF3 Zornitza Stark reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996, 32622824, 31186518; Phenotypes: Ciliary dyskinesia, primary, 2, MIM# 606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.128 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Heterotaxy v0.128 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Green List (High Evidence).
Heterotaxy v0.128 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, MIM#613808
Heterotaxy v0.127 CCDC40 Zornitza Stark Publications for gene: CCDC40 were set to
Heterotaxy v0.126 CCDC40 Zornitza Stark Mode of inheritance for gene: CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.125 CCDC40 Zornitza Stark reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 23255504, 31879361, 31765523, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.125 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Heterotaxy v0.125 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Green List (High Evidence).
Heterotaxy v0.125 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, MIM# 613807
Heterotaxy v0.124 CCDC39 Zornitza Stark Publications for gene: CCDC39 were set to
Heterotaxy v0.123 CCDC39 Zornitza Stark Mode of inheritance for gene: CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.122 CCDC39 Zornitza Stark reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972, 23255504; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.122 CCDC151 Zornitza Stark Marked gene: CCDC151 as ready
Heterotaxy v0.122 CCDC151 Zornitza Stark Gene: ccdc151 has been classified as Green List (High Evidence).
Heterotaxy v0.122 CCDC151 Zornitza Stark Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, MIM# 616037
Heterotaxy v0.121 CCDC151 Zornitza Stark Publications for gene: CCDC151 were set to
Heterotaxy v0.120 CCDC151 Zornitza Stark Mode of inheritance for gene: CCDC151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.119 CCDC151 Zornitza Stark reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192045, 25224326, 32490514, 32286033, 30504913; Phenotypes: Ciliary dyskinesia, primary, 30, MIM# 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.119 CCDC114 Zornitza Stark Marked gene: CCDC114 as ready
Heterotaxy v0.119 CCDC114 Zornitza Stark Gene: ccdc114 has been classified as Green List (High Evidence).
Heterotaxy v0.119 CCDC114 Zornitza Stark Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, MIM# 615067
Heterotaxy v0.118 CCDC114 Zornitza Stark Publications for gene: CCDC114 were set to
Heterotaxy v0.117 CCDC114 Zornitza Stark Mode of inheritance for gene: CCDC114 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.116 CCDC114 Zornitza Stark Mode of inheritance for gene: CCDC114 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.115 CCDC114 Zornitza Stark reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261303, 23261302, 32855706, 23506398; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.115 CCDC103 Zornitza Stark Marked gene: CCDC103 as ready
Heterotaxy v0.115 CCDC103 Zornitza Stark Gene: ccdc103 has been classified as Green List (High Evidence).
Heterotaxy v0.115 CCDC103 Zornitza Stark Phenotypes for gene: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, MIM# 614679
Heterotaxy v0.114 CCDC103 Zornitza Stark Publications for gene: CCDC103 were set to
Heterotaxy v0.113 CCDC103 Zornitza Stark Mode of inheritance for gene: CCDC103 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.112 CCDC103 Zornitza Stark Tag founder tag was added to gene: CCDC103.
Heterotaxy v0.112 CCDC103 Zornitza Stark reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581229, 32447765, 31858719, 28790179; Phenotypes: Ciliary dyskinesia, primary, 17, MIM# 614679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.112 DNAAF4 Zornitza Stark Marked gene: DNAAF4 as ready
Heterotaxy v0.112 DNAAF4 Zornitza Stark Gene: dnaaf4 has been classified as Green List (High Evidence).
Heterotaxy v0.112 DNAAF4 Zornitza Stark Tag SV/CNV tag was added to gene: DNAAF4.
Tag founder tag was added to gene: DNAAF4.
Heterotaxy v0.112 DNAAF4 Zornitza Stark Phenotypes for gene: DNAAF4 were changed from to Ciliary dyskinesia, primary, 25, MIM# 615482
Heterotaxy v0.111 DNAAF4 Zornitza Stark Publications for gene: DNAAF4 were set to
Heterotaxy v0.110 DNAAF4 Zornitza Stark Mode of inheritance for gene: DNAAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.109 DNAAF4 Zornitza Stark reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: Ciliary dyskinesia, primary, 25, MIM# 615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.109 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Heterotaxy v0.109 PKD1L1 Zornitza Stark Added comment: Comment when marking as ready: Additional family reported, promote to Green.
Heterotaxy v0.109 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence).
Heterotaxy v0.109 PKD1L1 Zornitza Stark Phenotypes for gene: PKD1L1 were changed from Heterotaxy, visceral, 8, autosomal (MIM#617205) to Heterotaxy, visceral, 8, autosomal (MIM#617205); heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia
Heterotaxy v0.108 PKD1L1 Zornitza Stark Publications for gene: PKD1L1 were set to 27616478; 30664273; 20080492
Heterotaxy v0.107 PKD1L1 Zornitza Stark Classified gene: PKD1L1 as Green List (high evidence)
Heterotaxy v0.107 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence).
Heterotaxy v0.106 PKD1L1 Anna Le Fevre reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31026592 (in addition to those listed below); Phenotypes: heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.106 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Heterotaxy v0.106 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.106 LZTFL1 Zornitza Stark Classified gene: LZTFL1 as Amber List (moderate evidence)
Heterotaxy v0.106 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.105 LRRC56 Zornitza Stark Marked gene: LRRC56 as ready
Heterotaxy v0.105 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Heterotaxy v0.105 LRRC56 Zornitza Stark Classified gene: LRRC56 as Green List (high evidence)
Heterotaxy v0.105 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Heterotaxy v0.104 MNS1 Zornitza Stark Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948
Heterotaxy v0.103 MNS1 Zornitza Stark edited their review of gene: MNS1: Changed phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility 618948
Heterotaxy v0.103 HYDIN Crystle Lee reviewed gene: HYDIN: Rating: RED; Mode of pathogenicity: None; Publications: 23022101, 23849777; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#08647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.103 LRRC56 Elena Savva gene: LRRC56 was added
gene: LRRC56 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC56 were set to PMID: 30388400
Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39 618254
Review for gene: LRRC56 was set to GREEN
Added comment: PMID: 30388400 - 3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). All patients had dextrocardia, atrial situs inversus and abdominal/thoracic situs inversus
Sources: Expert list
Heterotaxy v0.103 LZTFL1 Crystle Lee gene: LZTFL1 was added
gene: LZTFL1 was added to Heterotaxy. Sources: Expert Review
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LZTFL1 were set to 22510444; 23692385; 27312011; 22072986
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 (MIM#615994)
Review for gene: LZTFL1 was set to AMBER
Added comment: Only 1 family of the 2 currently reported presented with situs invertus

PMID: 22510444; Marion 2012: Hom variant reported in BBS family, presenting with situs invertus. Supporting functional studies performed. Variant not present in gnomad

PMID: 23692385; Schaefer 2014: Compound heterozygous variants reported in twins with BBS, with supporting functional studies. Situs invertus not reported. Variants not in gnomAD at unexpected frquencies.

PMID: 27312011; Jiang 2016: Knockout mice model showed retinal defects and differences in weight compared to wild-type mice.

PMID: 22072986; Seo 2011: LZTFL1 interacts with BBS protein complex and is an important regulator of BBSome ciliary trafficking
Sources: Expert Review
Heterotaxy v0.103 DNAL1 Zornitza Stark Marked gene: DNAL1 as ready
Heterotaxy v0.103 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.103 DNAL1 Zornitza Stark Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, MIM# 614017
Heterotaxy v0.102 DNAL1 Zornitza Stark Publications for gene: DNAL1 were set to
Heterotaxy v0.101 DNAL1 Zornitza Stark Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.100 DNAL1 Zornitza Stark Tag founder tag was added to gene: DNAL1.
Heterotaxy v0.100 DNAL1 Zornitza Stark Classified gene: DNAL1 as Amber List (moderate evidence)
Heterotaxy v0.100 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.99 DNAL1 Zornitza Stark reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: Ciliary dyskinesia, primary, 16, MIM# 614017; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.99 GAS8 Zornitza Stark changed review comment from: Heterotaxy is not part of the phenotype of this PCD.; to: Heterotaxy is not part of the phenotype of this PCD in the individuals reported, though note zebrafish model had LR axis abnormalities.
Heterotaxy v0.99 GAS8 Zornitza Stark edited their review of gene: GAS8: Changed publications: 19043402, 26387594
Heterotaxy v0.99 GAS8 Zornitza Stark Marked gene: GAS8 as ready
Heterotaxy v0.99 GAS8 Zornitza Stark Gene: gas8 has been classified as Red List (Low Evidence).
Heterotaxy v0.99 GAS8 Zornitza Stark Phenotypes for gene: GAS8 were changed from to Ciliary dyskinesia, primary, 33, MIM# 616726
Heterotaxy v0.98 GAS8 Zornitza Stark Mode of inheritance for gene: GAS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.97 GAS8 Zornitza Stark Classified gene: GAS8 as Red List (low evidence)
Heterotaxy v0.97 GAS8 Zornitza Stark Gene: gas8 has been classified as Red List (Low Evidence).
Heterotaxy v0.96 GAS8 Zornitza Stark reviewed gene: GAS8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 33, MIM# 616726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.96 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Heterotaxy v0.95 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Heterotaxy v0.95 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.95 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.95 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.94 NPHP4 Zornitza Stark Classified gene: NPHP4 as Amber List (moderate evidence)
Heterotaxy v0.94 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.93 CCNO Zornitza Stark Marked gene: CCNO as ready
Heterotaxy v0.93 CCNO Zornitza Stark Gene: ccno has been classified as Red List (Low Evidence).
Heterotaxy v0.93 CCNO Zornitza Stark Phenotypes for gene: CCNO were changed from to Ciliary dyskinesia, primary, 29, MIM# 615872
Heterotaxy v0.92 CCNO Zornitza Stark Publications for gene: CCNO were set to
Heterotaxy v0.91 CCNO Zornitza Stark Mode of inheritance for gene: CCNO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.90 CCNO Zornitza Stark Classified gene: CCNO as Red List (low evidence)
Heterotaxy v0.90 CCNO Zornitza Stark Gene: ccno has been classified as Red List (Low Evidence).
Heterotaxy v0.89 CRELD1 Zornitza Stark Classified gene: CRELD1 as Amber List (moderate evidence)
Heterotaxy v0.89 CRELD1 Zornitza Stark Gene: creld1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.88 CRELD1 Zornitza Stark changed review comment from: Three families reported with heterozygous missense variants and heterotaxy phenotype.
Sources: Expert list; to: Three families reported with heterozygous missense variants and heterotaxy phenotype. However, supporting evidence of pathogenicity for some of the variants is relatively weak.
Sources: Expert list
Heterotaxy v0.88 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed rating: AMBER
Heterotaxy v0.88 DNAAF2 Zornitza Stark Marked gene: DNAAF2 as ready
Heterotaxy v0.88 DNAAF2 Zornitza Stark Gene: dnaaf2 has been classified as Green List (High Evidence).
Heterotaxy v0.88 DNAAF2 Zornitza Stark Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10 612518
Heterotaxy v0.87 DNAAF2 Zornitza Stark Publications for gene: DNAAF2 were set to
Heterotaxy v0.86 DNAAF2 Zornitza Stark Mode of inheritance for gene: DNAAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.85 DNAH1 Zornitza Stark Marked gene: DNAH1 as ready
Heterotaxy v0.85 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Red List (Low Evidence).
Heterotaxy v0.85 DNAH1 Zornitza Stark Classified gene: DNAH1 as Red List (low evidence)
Heterotaxy v0.85 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Red List (Low Evidence).
Heterotaxy v0.84 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Heterotaxy v0.84 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Heterotaxy v0.84 DNAH9 Zornitza Stark Classified gene: DNAH9 as Green List (high evidence)
Heterotaxy v0.84 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Heterotaxy v0.83 DRC1 Zornitza Stark Marked gene: DRC1 as ready
Heterotaxy v0.83 DRC1 Zornitza Stark Gene: drc1 has been classified as Red List (Low Evidence).
Heterotaxy v0.83 DRC1 Zornitza Stark Phenotypes for gene: DRC1 were changed from to Ciliary dyskinesia, primary, 21, MIM# 615294
Heterotaxy v0.82 DRC1 Zornitza Stark Publications for gene: DRC1 were set to
Heterotaxy v0.81 DRC1 Zornitza Stark Mode of inheritance for gene: DRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.80 DRC1 Zornitza Stark Classified gene: DRC1 as Red List (low evidence)
Heterotaxy v0.80 DRC1 Zornitza Stark Gene: drc1 has been classified as Red List (Low Evidence).
Heterotaxy v0.79 MCIDAS Zornitza Stark Marked gene: MCIDAS as ready
Heterotaxy v0.79 MCIDAS Zornitza Stark Gene: mcidas has been classified as Red List (Low Evidence).
Heterotaxy v0.79 MCIDAS Zornitza Stark Phenotypes for gene: MCIDAS were changed from to Ciliary dyskinesia, primary, 42 (MIM#618695)
Heterotaxy v0.78 MCIDAS Zornitza Stark Publications for gene: MCIDAS were set to
Heterotaxy v0.77 MCIDAS Zornitza Stark Mode of inheritance for gene: MCIDAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.76 MCIDAS Zornitza Stark Classified gene: MCIDAS as Red List (low evidence)
Heterotaxy v0.76 MCIDAS Zornitza Stark Gene: mcidas has been classified as Red List (Low Evidence).
Heterotaxy v0.75 MCIDAS Crystle Lee changed review comment from: PCD without situs invertus (OMIM)

PMID: 25048963: 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia; to: PCD without situs invertus (OMIM)

PMID: 25048963: 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia. None of the variants identified were observed in gnomAD at unexpected frequency for a recessive condition.
Heterotaxy v0.75 MCIDAS Crystle Lee reviewed gene: MCIDAS: Rating: RED; Mode of pathogenicity: None; Publications: 25048963; Phenotypes: Ciliary dyskinesia, primary, 42 (MIM#618695); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.75 DRC1 Elena Savva reviewed gene: DRC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31960620, 32108610; Phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.75 DNAH9 Elena Savva gene: DNAH9 was added
gene: DNAH9 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to PMID: 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40 618300
Review for gene: DNAH9 was set to GREEN
Added comment: OMIM: Situs inversus of the heart

PMID: 30471717 - 4 patients (3 families) all with PCD and situs inversus.

PMID: 30471718 - 5 families with situs inversus totalis and/or heterotaxy
Sources: Expert list
Heterotaxy v0.75 DNAH1 Elena Savva gene: DNAH1 was added
gene: DNAH1 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH1 were set to PMID: 25927852; 24360805
Phenotypes for gene: DNAH1 were set to ?Ciliary dyskinesia, primary, 37 617577
Review for gene: DNAH1 was set to RED
Added comment: PMID: 25927852 - 2 homozygous siblings with a missense variant and PCD. Proband had situs invertus, sibling details unavailable.

PMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. No mention of patients and situs inversus "Apart from infertility, none of the 20 individuals declared suffering from any of the principal PCD symptoms"

Summary: single report but emerging gene with limited reports
Sources: Expert list
Heterotaxy v0.75 DNAAF2 Elena Savva reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19052621, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.75 CCNO Elena Savva reviewed gene: CCNO: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24747639, 24824133, 31765523; Phenotypes: Ciliary dyskinesia, primary, 29 615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.75 NPHP4 Crystle Lee gene: NPHP4 was added
gene: NPHP4 was added to Heterotaxy. Sources: Expert Review
Mode of inheritance for gene: NPHP4 was set to Unknown
Publications for gene: NPHP4 were set to 22550138
Phenotypes for gene: NPHP4 were set to Pleiotropic Heart Malformations (PMID: 22550138)
Review for gene: NPHP4 was set to AMBER
Added comment: Single publication in 2012 reported biallelic variants in a consanguineous family and additional heterozygous variants in sporadic patients with cardiac laterality defects. Knockdown nphp4 expression in zebrafish caused laterality defects.

PMID: 22550138; Frenh 2012: Hom missense reported in a consang family with with cardiac laterality defects. 9 additional het sporadic cases reported with features of heterotaxy. p.(Ala1110Val) reported in one patient with abdominal situs inversus but variant is present in gnomAD (1007 hets and 3 hom), another missense, p.(Pro541Leu), reported in patient with midline liver and asplenia (variant is present 228x in gnomAD). Most of the variants in the sporadic cases either many hets or present in homozygosity.
Sources: Expert Review
Heterotaxy v0.75 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Heterotaxy v0.75 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.75 PKD1L1 Zornitza Stark Publications for gene: PKD1L1 were set to
Heterotaxy v0.74 PKD1L1 Zornitza Stark Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal (MIM#617205)
Heterotaxy v0.73 PKD1L1 Zornitza Stark Mode of inheritance for gene: PKD1L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.72 PKD1L1 Zornitza Stark Classified gene: PKD1L1 as Amber List (moderate evidence)
Heterotaxy v0.72 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.71 RPGR Zornitza Stark Marked gene: RPGR as ready
Heterotaxy v0.71 RPGR Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence).
Heterotaxy v0.71 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)
Heterotaxy v0.70 RPGR Zornitza Stark Publications for gene: RPGR were set to
Heterotaxy v0.69 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Heterotaxy v0.68 RPGR Zornitza Stark Classified gene: RPGR as Red List (low evidence)
Heterotaxy v0.68 RPGR Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence).
Heterotaxy v0.67 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Heterotaxy v0.67 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Red List (Low Evidence).
Heterotaxy v0.67 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)
Heterotaxy v0.66 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Heterotaxy v0.65 RSPH1 Zornitza Stark Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.64 RSPH1 Zornitza Stark Classified gene: RSPH1 as Red List (low evidence)
Heterotaxy v0.64 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Red List (Low Evidence).
Heterotaxy v0.63 RSPH3 Zornitza Stark Marked gene: RSPH3 as ready
Heterotaxy v0.63 RSPH3 Zornitza Stark Gene: rsph3 has been classified as Red List (Low Evidence).
Heterotaxy v0.63 RSPH3 Zornitza Stark Phenotypes for gene: RSPH3 were changed from to Ciliary dyskinesia, primary, 32 (MIM#616481)
Heterotaxy v0.62 RSPH3 Zornitza Stark Publications for gene: RSPH3 were set to
Heterotaxy v0.61 RSPH3 Zornitza Stark Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.60 RSPH3 Zornitza Stark Classified gene: RSPH3 as Red List (low evidence)
Heterotaxy v0.60 RSPH3 Zornitza Stark Gene: rsph3 has been classified as Red List (Low Evidence).
Heterotaxy v0.59 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Heterotaxy v0.59 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Heterotaxy v0.59 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11 (MIM#612649)
Heterotaxy v0.58 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Heterotaxy v0.57 RSPH4A Zornitza Stark Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.56 RSPH4A Zornitza Stark Classified gene: RSPH4A as Red List (low evidence)
Heterotaxy v0.56 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Heterotaxy v0.55 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Heterotaxy v0.55 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Heterotaxy v0.55 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12 (MIM#612650)
Heterotaxy v0.54 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Heterotaxy v0.53 RSPH9 Zornitza Stark Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.52 RSPH9 Zornitza Stark Classified gene: RSPH9 as Red List (low evidence)
Heterotaxy v0.52 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Heterotaxy v0.51 PKD1L1 Crystle Lee reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27616478, 30664273, 20080492; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 RPGR Crystle Lee reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: None; Publications: 26093275, 31775781; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Heterotaxy v0.51 RSPH1 Crystle Lee reviewed gene: RSPH1: Rating: RED; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 (MIM#615481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 RSPH3 Crystle Lee reviewed gene: RSPH3: Rating: RED; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 (MIM#616481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 RSPH4A Crystle Lee reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: None; Publications: 25789548; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 RSPH9 Crystle Lee reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: 19200523; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 STK36 Zornitza Stark Marked gene: STK36 as ready
Heterotaxy v0.51 STK36 Zornitza Stark Gene: stk36 has been classified as Red List (Low Evidence).
Heterotaxy v0.51 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from to Primary ciliary dyskinesia
Heterotaxy v0.50 STK36 Zornitza Stark Publications for gene: STK36 were set to
Heterotaxy v0.49 STK36 Zornitza Stark Mode of inheritance for gene: STK36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.48 STK36 Zornitza Stark Classified gene: STK36 as Red List (low evidence)
Heterotaxy v0.48 STK36 Zornitza Stark Gene: stk36 has been classified as Red List (Low Evidence).
Heterotaxy v0.47 STK36 Zornitza Stark reviewed gene: STK36: Rating: RED; Mode of pathogenicity: None; Publications: 28543983; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.47 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Heterotaxy v0.47 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Heterotaxy v0.47 FOXJ1 Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence)
Heterotaxy v0.47 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Heterotaxy v0.46 NME8 Zornitza Stark Marked gene: NME8 as ready
Heterotaxy v0.46 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Heterotaxy v0.46 NME8 Zornitza Stark Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852
Heterotaxy v0.45 NME8 Zornitza Stark Publications for gene: NME8 were set to
Heterotaxy v0.44 NME8 Zornitza Stark Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.43 NME8 Zornitza Stark Classified gene: NME8 as Red List (low evidence)
Heterotaxy v0.43 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Heterotaxy v0.42 DNAH6 Zornitza Stark Marked gene: DNAH6 as ready
Heterotaxy v0.42 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.42 DNAH6 Zornitza Stark Classified gene: DNAH6 as Amber List (moderate evidence)
Heterotaxy v0.42 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.41 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Heterotaxy v0.41 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Heterotaxy v0.41 CFAP53 Zornitza Stark Classified gene: CFAP53 as Green List (high evidence)
Heterotaxy v0.41 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Heterotaxy v0.40 NME8 Elena Savva reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17360648, 31966386; Phenotypes: Ciliary dyskinesia, primary, 6 610852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.40 FOXJ1 Elena Savva Deleted their comment
Heterotaxy v0.40 FOXJ1 Elena Savva edited their review of gene: FOXJ1: 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; Changed mode of pathogenicity: Other
Heterotaxy v0.40 FOXJ1 Elena Savva gene: FOXJ1 was added
gene: FOXJ1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXJ1 were set to PMID 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
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: Literature
Heterotaxy v0.40 DNAH6 Elena Savva gene: DNAH6 was added
gene: DNAH6 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH6 were set to PMID: 26918822
Phenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia
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: Literature
Heterotaxy v0.40 CFAP53 Elena Savva gene: CFAP53 was added
gene: CFAP53 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID:28621423; 22577226; 26531781
Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive 614779
Review for gene: CFAP53 was set to GREEN
Added comment: aka CCDC11

PMID: 22577226 - 2 siblings with a homozygous splice variant. One sibling had situs invertus syndrome and the other heterotaxy. One sibling far less severely affected. Patients had normal beating cilia, no respiratory issues

PMID: 28621423 - no new patients, performs functional studies on patient cells from ^, and frog animal models. Assays demonstrate mislocalized protein, increased cilia length in patient samples, while animal models showed CFAP53/CCDC11 is important for left-right patterning.

PMID: 26531781 - 1 patient with a homozygous PTC with situs inversus. Respiratory function was described as normal. Zebrafish model recapitulates the human phenotype.

Summary: 2 patients described with situs invertus/heterotaxy + animal models
Sources: Literature
Heterotaxy v0.40 NODAL Zornitza Stark Marked gene: NODAL as ready
Heterotaxy v0.40 NODAL Zornitza Stark Gene: nodal has been classified as Red List (Low Evidence).
Heterotaxy v0.40 NODAL Zornitza Stark Classified gene: NODAL as Red List (low evidence)
Heterotaxy v0.40 NODAL Zornitza Stark Gene: nodal has been classified as Red List (Low Evidence).
Heterotaxy v0.39 NODAL Zornitza Stark Tag disputed tag was added to gene: NODAL.
Heterotaxy v0.39 PIH1D3 Zornitza Stark Marked gene: PIH1D3 as ready
Heterotaxy v0.39 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Heterotaxy v0.39 PIH1D3 Zornitza Stark Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)
Heterotaxy v0.38 PIH1D3 Zornitza Stark Publications for gene: PIH1D3 were set to
Heterotaxy v0.37 PIH1D3 Zornitza Stark Mode of inheritance for gene: PIH1D3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Heterotaxy v0.36 PIH1D3 Zornitza Stark reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28041644, 24421334, 28176794; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked (MIM#300991); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Heterotaxy v0.36 NODAL Crystle Lee gene: NODAL was added
gene: NODAL was added to Heterotaxy. Sources: Expert Review
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NODAL were set to 9354794; 19064609
Phenotypes for gene: NODAL were set to Heterotaxy, visceral, 5 (MIM#270100)
Review for gene: NODAL was set to RED
Added comment: Minimal reports and variants in original publications present in gnomAD at a higher than expected frequency, originally concluded to be due to incomplete penetrance.

PMID: 9354794 (1997): R183Q reported in affected daughter and unaffected mother. (26 hets; 1 hom in gnomAD)

PMID: 19064609 (2009): Reported 4 missense, 1 indel and 2 splice site variants. G260R also found in unaffected individual, concluded to have incomplete penetrance (80 hets in gnomAD); R275C (13 hets in gnomAD); E203K (113 hets and 1 hom)
Sources: Expert Review
Heterotaxy v0.36 GDF1 Zornitza Stark Marked gene: GDF1 as ready
Heterotaxy v0.36 GDF1 Zornitza Stark Gene: gdf1 has been classified as Green List (High Evidence).
Heterotaxy v0.36 GDF1 Zornitza Stark Classified gene: GDF1 as Green List (high evidence)
Heterotaxy v0.36 GDF1 Zornitza Stark Gene: gdf1 has been classified as Green List (High Evidence).
Heterotaxy v0.35 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GDF1 were set to 32144877
Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530
Review for gene: GDF1 was set to GREEN
Added comment: PMID: 32144877 - founder PTC in Arab population causing congenital heart detects AND right isomerism in 3 (unrelated?) families. Reviews other publications and reports additional chet (two PTC) or homozygous (missense) families with situs inversus and/or heart defects. No apparent genotype-phenotype correlation btw dominant and recessive disease.
Sources: Expert list
Heterotaxy v0.34 DNAJB13 Zornitza Stark Marked gene: DNAJB13 as ready
Heterotaxy v0.34 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Red List (Low Evidence).
Heterotaxy v0.34 DNAJB13 Zornitza Stark Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, MIM# 617091
Heterotaxy v0.33 DNAJB13 Zornitza Stark Publications for gene: DNAJB13 were set to
Heterotaxy v0.32 DNAJB13 Zornitza Stark Mode of inheritance for gene: DNAJB13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.31 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Red List (low evidence)
Heterotaxy v0.31 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Red List (Low Evidence).
Heterotaxy v0.30 DNAJB13 Zornitza Stark reviewed gene: DNAJB13: Rating: RED; Mode of pathogenicity: None; Publications: 27486783; Phenotypes: Ciliary dyskinesia, primary, 34 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.30 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Heterotaxy v0.30 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Heterotaxy v0.30 ZIC3 Zornitza Stark Classified gene: ZIC3 as Green List (high evidence)
Heterotaxy v0.30 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Heterotaxy v0.29 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Heterotaxy v0.29 CRELD1 Zornitza Stark Gene: creld1 has been classified as Green List (High Evidence).
Heterotaxy v0.29 CRELD1 Zornitza Stark Classified gene: CRELD1 as Green List (high evidence)
Heterotaxy v0.29 CRELD1 Zornitza Stark Gene: creld1 has been classified as Green List (High Evidence).
Heterotaxy v0.28 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRELD1 were set to 22740159
Phenotypes for gene: CRELD1 were set to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Review for gene: CRELD1 was set to GREEN
Added comment: Three families reported with heterozygous missense variants and heterotaxy phenotype.
Sources: Expert list
Heterotaxy v0.27 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Heterotaxy v0.27 CFC1 Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence).
Heterotaxy v0.27 CFC1 Zornitza Stark Classified gene: CFC1 as Green List (high evidence)
Heterotaxy v0.27 CFC1 Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence).
Heterotaxy v0.26 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFC1 were set to 31633655; 18162845; 25423076; 11062482
Phenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal 605376
Review for gene: CFC1 was set to GREEN
Added comment: PMID: 31633655 - 1 patient with a heterozygous missense, paternally inherited. The proband has situs inversus with biliary atresia, while the father did not have biliary atresia but DID have situs inversus PMID: 18162845 - recurring missense (p.Ala145Thr) reported in 5 patients with biliary atresia splenic malformation syndrome. Authors conclude the variant may not be completely causative but create a predisposition to the syndrome. This variant has 145 hets in the population (gnomAD) but with strong strand bias - may not be real. PMID: 25423076 - 8 patients reported with heterotaxy and CNVs resulting in the deletion of CFC1. Clear breakpoints not mentioned, but CNVs are suggestive to be multigenic. PMID: 11062482 - 9 heterozygous patients with mostly missense but also one PTC. Null zebrafish model recapitulate the mutant phenotype, could not be rescued by 2 mutant mRNA.
Sources: Expert list
Heterotaxy v0.25 TTC25 Zornitza Stark Marked gene: TTC25 as ready
Heterotaxy v0.25 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.25 TTC25 Zornitza Stark Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary, 35 (MIM#617092)
Heterotaxy v0.24 TTC25 Zornitza Stark Publications for gene: TTC25 were set to
Heterotaxy v0.23 TTC25 Zornitza Stark Mode of inheritance for gene: TTC25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.22 TTC25 Zornitza Stark Classified gene: TTC25 as Amber List (moderate evidence)
Heterotaxy v0.22 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.21 TTC25 Zornitza Stark reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486780; Phenotypes: Ciliary dyskinesia, primary, 35 (MIM#617092); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.21 ZIC3 Crystle Lee gene: ZIC3 was added
gene: ZIC3 was added to Heterotaxy. Sources: Expert Review
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZIC3 were set to 27406248; 30120289
Phenotypes for gene: ZIC3 were set to Heterotaxy, visceral, 1, X-linked (MIM#306955)
Review for gene: ZIC3 was set to GREEN
Added comment: Pathogenic loss of function variants reported in >5 patients with heterotaxy

PMID: 27406248; Paulussen 2016: Reported 6 pathogenic variants in a cohort of patients with congenital heart disease including heterotaxy and reviewed previously published cases. Functional studies performed confirming LoF mechanism. Classified inframe dups within polyA region as VUS.

PMID: 30120289; Li 2018: 1 additional hemi missense reported in a male patients inherited from carrier mother.
Sources: Expert Review
Heterotaxy v0.21 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Heterotaxy v0.21 C21orf59 Zornitza Stark Added comment: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population
Heterotaxy v0.21 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Heterotaxy v0.21 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
Heterotaxy v0.21 C11orf70 Zornitza Stark Marked gene: C11orf70 as ready
Heterotaxy v0.21 C11orf70 Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence).
Heterotaxy v0.21 C11orf70 Zornitza Stark Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, MIM# 618063
Heterotaxy v0.20 C11orf70 Zornitza Stark Publications for gene: C11orf70 were set to
Heterotaxy v0.19 C11orf70 Zornitza Stark Mode of inheritance for gene: C11orf70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.18 C11orf70 Zornitza Stark reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: None; Publications: 29727693, 29727692; Phenotypes: Ciliary dyskinesia, primary, 38, MIM# 618063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.18 C11orf70 Zornitza Stark Tag new gene name tag was added to gene: C11orf70.
Heterotaxy v0.18 ARMC4 Zornitza Stark Marked gene: ARMC4 as ready
Heterotaxy v0.18 ARMC4 Zornitza Stark Gene: armc4 has been classified as Green List (High Evidence).
Heterotaxy v0.18 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from to Ciliary dyskinesia, primary, 23, MIM# 615451
Heterotaxy v0.17 ARMC4 Zornitza Stark Publications for gene: ARMC4 were set to
Heterotaxy v0.16 ARMC4 Zornitza Stark Mode of inheritance for gene: ARMC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.15 ARMC4 Zornitza Stark edited their review of gene: ARMC4: Changed publications: 31765523, 23849778
Heterotaxy v0.15 ARMC4 Zornitza Stark reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31765523; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.15 CCDC65 Zornitza Stark Marked gene: CCDC65 as ready
Heterotaxy v0.15 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Green List (High Evidence).
Heterotaxy v0.15 CCDC65 Zornitza Stark Tag founder tag was added to gene: CCDC65.
Heterotaxy v0.15 CCDC65 Zornitza Stark Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504
Heterotaxy v0.14 CCDC65 Zornitza Stark Publications for gene: CCDC65 were set to
Heterotaxy v0.13 CCDC65 Zornitza Stark Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.12 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
Heterotaxy v0.12 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Heterotaxy v0.12 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Heterotaxy v0.12 C21orf59 Zornitza Stark Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500
Heterotaxy v0.11 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Heterotaxy v0.10 C21orf59 Zornitza Stark Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.9 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Heterotaxy v0.9 C21orf59 Zornitza Stark reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24094744; Phenotypes: Ciliary dyskinesia, primary, 26, MIM# 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.9 MNS1 Zornitza Stark Marked gene: MNS1 as ready
Heterotaxy v0.9 MNS1 Zornitza Stark Added comment: Comment when marking as ready: A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Heterotaxy v0.9 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Heterotaxy v0.9 MNS1 Zornitza Stark Classified gene: MNS1 as Green List (high evidence)
Heterotaxy v0.9 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Heterotaxy v0.8 MNS1 Zornitza Stark gene: MNS1 was added
gene: MNS1 was added to Heterotaxy. 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
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.
Sources: Literature
Heterotaxy v0.7 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Heterotaxy v0.7 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Heterotaxy v0.7 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Heterotaxy v0.6 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Heterotaxy v0.5 DNAH5 Zornitza Stark Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.4 DNAH5 Zornitza Stark reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.4 Zornitza Stark Panel name changed from Heterotaxy_VCGS to Heterotaxy
Panel types changed to Victorian Clinical Genetics Services
Heterotaxy v0.3 ZMYND10 Zornitza Stark Marked gene: ZMYND10 as ready
Heterotaxy v0.3 ZMYND10 Zornitza Stark Gene: zmynd10 has been classified as Green List (High Evidence).
Heterotaxy v0.3 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from to Ciliary dyskinesia, primary, 22, MIM#615444
Heterotaxy v0.2 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Heterotaxy v0.1 ZMYND10 Zornitza Stark Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.0 ZMYND10 Zornitza Stark gene: ZMYND10 was added
gene: ZMYND10 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZMYND10 was set to Unknown
Heterotaxy v0.0 TTC25 Zornitza Stark gene: TTC25 was added
gene: TTC25 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC25 was set to Unknown
Heterotaxy v0.0 STK36 Zornitza Stark gene: STK36 was added
gene: STK36 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STK36 was set to Unknown
Heterotaxy v0.0 SPAG1 Zornitza Stark gene: SPAG1 was added
gene: SPAG1 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPAG1 was set to Unknown
Heterotaxy v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPH9 was set to Unknown
Heterotaxy v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPH4A was set to Unknown
Heterotaxy v0.0 RSPH3 Zornitza Stark gene: RSPH3 was added
gene: RSPH3 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPH3 was set to Unknown
Heterotaxy v0.0 RSPH1 Zornitza Stark gene: RSPH1 was added
gene: RSPH1 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPH1 was set to Unknown
Heterotaxy v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPGR was set to Unknown
Heterotaxy v0.0 PKD1L1 Zornitza Stark gene: PKD1L1 was added
gene: PKD1L1 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PKD1L1 was set to Unknown
Heterotaxy v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIH1D3 was set to Unknown
Heterotaxy v0.0 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NME8 was set to Unknown
Heterotaxy v0.0 MMP21 Zornitza Stark gene: MMP21 was added
gene: MMP21 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMP21 was set to Unknown
Heterotaxy v0.0 MCIDAS Zornitza Stark gene: MCIDAS was added
gene: MCIDAS was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MCIDAS was set to Unknown
Heterotaxy v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRRC6 was set to Unknown
Heterotaxy v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HYDIN was set to Unknown
Heterotaxy v0.0 GAS8 Zornitza Stark gene: GAS8 was added
gene: GAS8 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GAS8 was set to Unknown
Heterotaxy v0.0 DRC1 Zornitza Stark gene: DRC1 was added
gene: DRC1 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DRC1 was set to Unknown
Heterotaxy v0.0 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAL1 was set to Unknown
Heterotaxy v0.0 DNAJB13 Zornitza Stark gene: DNAJB13 was added
gene: DNAJB13 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJB13 was set to Unknown
Heterotaxy v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAI2 was set to Unknown
Heterotaxy v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAI1 was set to Unknown
Heterotaxy v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH5 was set to Unknown
Heterotaxy v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH11 was set to Unknown
Heterotaxy v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF5 was set to Unknown
Heterotaxy v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF4 was set to Unknown
Heterotaxy v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF3 was set to Unknown
Heterotaxy v0.0 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF2 was set to Unknown
Heterotaxy v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF1 was set to Unknown
Heterotaxy v0.0 C11orf70 Zornitza Stark gene: C11orf70 was added
gene: C11orf70 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C11orf70 was set to Unknown
Heterotaxy v0.0 C21orf59 Zornitza Stark gene: C21orf59 was added
gene: C21orf59 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C21orf59 was set to Unknown
Heterotaxy v0.0 CCNO Zornitza Stark gene: CCNO was added
gene: CCNO was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCNO was set to Unknown
Heterotaxy v0.0 CCDC65 Zornitza Stark gene: CCDC65 was added
gene: CCDC65 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC65 was set to Unknown
Heterotaxy v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC40 was set to Unknown
Heterotaxy v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC39 was set to Unknown
Heterotaxy v0.0 CCDC151 Zornitza Stark gene: CCDC151 was added
gene: CCDC151 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC151 was set to Unknown
Heterotaxy v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC114 was set to Unknown
Heterotaxy v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC103 was set to Unknown
Heterotaxy v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC4 was set to Unknown
Heterotaxy v0.0 Zornitza Stark Added panel Heterotaxy_VCGS