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Ciliary Dyskinesia v0.57 DNAH1 Zornitza Stark Classified gene: DNAH1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.57 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.56 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Ciliary Dyskinesia v0.56 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.56 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12 (MIM#612650)
Ciliary Dyskinesia v0.55 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Ciliary Dyskinesia v0.54 RSPH9 Zornitza Stark Mode of inheritance for gene: RSPH9 was changed from Unknown to 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).
Ciliopathies v0.127 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Ciliopathies v0.127 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Ciliopathies v0.127 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked (MIM#306955)
Ciliopathies v0.126 ZIC3 Zornitza Stark Publications for gene: ZIC3 were set to
Ciliopathies v0.125 ZIC3 Zornitza Stark Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliopathies v0.124 ZIC3 Zornitza Stark Classified gene: ZIC3 as Red List (low evidence)
Ciliopathies v0.124 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Ciliopathies v0.123 ZIC3 Zornitza Stark reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Ciliopathies v0.123 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Ciliopathies v0.123 CRELD1 Zornitza Stark Gene: creld1 has been classified as Red List (Low Evidence).
Ciliopathies v0.123 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Ciliopathies v0.122 CRELD1 Zornitza Stark Publications for gene: CRELD1 were set to
Ciliopathies v0.121 CRELD1 Zornitza Stark Mode of inheritance for gene: CRELD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.120 CRELD1 Zornitza Stark Classified gene: CRELD1 as Red List (low evidence)
Ciliopathies v0.120 CRELD1 Zornitza Stark Gene: creld1 has been classified as Red List (Low Evidence).
Mendeliome v0.2753 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Mendeliome v0.2753 CFC1 Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence).
Mendeliome v0.2753 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, autosomal 605376
Mendeliome v0.2752 CFC1 Zornitza Stark Publications for gene: CFC1 were set to
Mendeliome v0.2751 CFC1 Zornitza Stark Mode of inheritance for gene: CFC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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).
Mendeliome v0.2750 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
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
Ciliopathies v0.119 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Ciliopathies v0.119 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Ciliopathies v0.119 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, autosomal 605376
Ciliopathies v0.118 CFC1 Zornitza Stark Publications for gene: CFC1 were set to
Ciliopathies v0.117 CFC1 Zornitza Stark Mode of inheritance for gene: CFC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.116 CFC1 Zornitza Stark Classified gene: CFC1 as Red List (low evidence)
Ciliopathies v0.116 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.53 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Ciliary Dyskinesia v0.53 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.53 SCNN1G Zornitza Stark Classified gene: SCNN1G as Green List (high evidence)
Ciliary Dyskinesia v0.53 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.52 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: SCNN1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071
Review for gene: SCNN1G was set to GREEN
Added comment: Phenotypic overlap with PCD.
Sources: Expert list
Ciliopathies v0.115 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Ciliopathies v0.115 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Red List (Low Evidence).
Ciliopathies v0.115 SCNN1G Zornitza Stark edited their review of gene: SCNN1G: Changed phenotypes: Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071)
Ciliopathies v0.115 SCNN1G Zornitza Stark reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.115 SCNN1G Zornitza Stark Classified gene: SCNN1G as Red List (low evidence)
Ciliopathies v0.115 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Red List (Low Evidence).
Ciliopathies v0.114 SCNN1G Zornitza Stark Classified gene: SCNN1G as Amber List (moderate evidence)
Ciliopathies v0.114 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.51 SPAG1 Zornitza Stark Marked gene: SPAG1 as ready
Ciliary Dyskinesia v0.51 SPAG1 Zornitza Stark Gene: spag1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.51 SPAG1 Zornitza Stark Phenotypes for gene: SPAG1 were changed from to Ciliary dyskinesia, primary, 28 (MIM#615505)
Ciliary Dyskinesia v0.50 SPAG1 Zornitza Stark Publications for gene: SPAG1 were set to
Ciliary Dyskinesia v0.49 SPAG1 Zornitza Stark Mode of inheritance for gene: SPAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.113 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Ciliopathies v0.113 PMM2 Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence).
Ciliopathies v0.113 PMM2 Zornitza Stark Classified gene: PMM2 as Red List (low evidence)
Ciliopathies v0.113 PMM2 Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence).
Ciliopathies v0.112 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.112 PRKCSH Zornitza Stark Marked gene: PRKCSH as ready
Ciliopathies v0.112 PRKCSH Zornitza Stark Added comment: Comment when marking as ready: Potential phenotypic overlap with ciliopathies.
Ciliopathies v0.112 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.112 PRKCSH Zornitza Stark Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 (MIM#174050)
Ciliopathies v0.111 PRKCSH Zornitza Stark Publications for gene: PRKCSH were set to 19876928
Ciliopathies v0.111 PRKCSH Zornitza Stark Publications for gene: PRKCSH were set to 19876928
Ciliopathies v0.111 PRKCSH Zornitza Stark Publications for gene: PRKCSH were set to
Ciliopathies v0.110 PRKCSH Zornitza Stark Mode of pathogenicity for gene: PRKCSH was changed from to Other
Ciliopathies v0.109 PRKCSH Zornitza Stark Mode of inheritance for gene: PRKCSH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.108 PRKCSH Zornitza Stark Classified gene: PRKCSH as Amber List (moderate evidence)
Ciliopathies v0.108 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2750 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Mendeliome v0.2750 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Mendeliome v0.2750 CFAP53 Zornitza Stark Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive 614779
Mendeliome v0.2749 CFAP53 Zornitza Stark Publications for gene: CFAP53 were set to
Mendeliome v0.2748 CFAP53 Zornitza Stark Mode of inheritance for gene: CFAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2747 CFAP53 Zornitza Stark reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 28621423, 22577226, 26531781; Phenotypes: Heterotaxy, visceral, 6, autosomal recessive 614779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.48 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Ciliary Dyskinesia v0.48 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.48 CFAP53 Zornitza Stark Classified gene: CFAP53 as Green List (high evidence)
Ciliary Dyskinesia v0.48 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Ciliopathies v0.107 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Ciliopathies v0.107 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Red List (Low Evidence).
Ciliopathies v0.107 CFAP53 Zornitza Stark Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive 614779
Ciliopathies v0.106 CFAP53 Zornitza Stark Publications for gene: CFAP53 were set to
Ciliopathies v0.105 CFAP53 Zornitza Stark Mode of inheritance for gene: CFAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.104 CFAP53 Zornitza Stark Classified gene: CFAP53 as Red List (low evidence)
Ciliopathies v0.104 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Red List (Low Evidence).
Mendeliome v0.2747 TTC25 Zornitza Stark Marked gene: TTC25 as ready
Mendeliome v0.2747 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2747 TTC25 Zornitza Stark Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary, 35 (MIM#617092)
Mendeliome v0.2746 TTC25 Zornitza Stark Publications for gene: TTC25 were set to
Mendeliome v0.2745 TTC25 Zornitza Stark Mode of inheritance for gene: TTC25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2744 TTC25 Zornitza Stark Classified gene: TTC25 as Amber List (moderate evidence)
Mendeliome v0.2744 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2743 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 v0.25 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
Ciliary Dyskinesia v0.47 TTC25 Zornitza Stark Marked gene: TTC25 as ready
Ciliary Dyskinesia v0.47 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.47 TTC25 Zornitza Stark Classified gene: TTC25 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.47 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2743 CFAP43 Zornitza Stark Marked gene: CFAP43 as ready
Mendeliome v0.2743 CFAP43 Zornitza Stark Added comment: Comment when marking as ready: Good evidence for bi-allelic disease, much less so for mono-allelic.
Mendeliome v0.2743 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Mendeliome v0.2743 CFAP43 Zornitza Stark Classified gene: CFAP43 as Green List (high evidence)
Mendeliome v0.2743 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Marked gene: CFAP43 as ready
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Added comment: Comment when marking as ready: Good evidence for bi-allelic disease, much less so for mono allelic.
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Classified gene: CFAP43 as Green List (high evidence)
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.45 RSPH3 Crystle Lee reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 (MIM#616481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.103 GDF1 Elena Savva reviewed gene: GDF1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32144877; Phenotypes: Congenital heart defects, multiple types, 6 613854, Right atrial isomerism (Ivemark) 208530; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 RSPH4A Crystle Lee reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 DNAJB13 Elena Savva gene: DNAJB13 was added
gene: DNAJB13 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB13 were set to PMID:27486783
Phenotypes for gene: DNAJB13 were set to Ciliary dyskinesia, primary, 34 617091
Review for gene: DNAJB13 was set to AMBER
Added comment: PMID: 27486783 - 2 unrelated families (missense, splice). One family hadsinopulmonary syndrome and TEM of nasal cells shows a reduction in cilia. Of remaining cilia, there was a reduction in motility. Functional studies of missense shows increased protein instability and degradation -> protein is absent from patient cilia.

Summary: 2 unrelated families. Functional studies prove LOF but no animal models to make it green in this list
Sources: Literature
Ciliary Dyskinesia v0.45 DNAH1 Elena Savva reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31507630, 31765523, 25927852, 24360805; Phenotypes: ?Ciliary dyskinesia, primary, 37 617577, Spermatogenic failure 18 617576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 RSPH9 Crystle Lee reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 31285900; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 RSPH9 Crystle Lee Deleted their review
Ciliary Dyskinesia v0.45 RSPH9 Crystle Lee reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); 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
Ciliopathies v0.103 ZIC3 Crystle Lee reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ciliopathies v0.103 CRELD1 Elena Savva reviewed gene: CRELD1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22740159; Phenotypes: {Atrioventricular septal defect, susceptibility to, 2} 606217, Atrioventricular septal defect, partial, with heterotaxy syndrome 606217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.103 CFC1 Elena Savva reviewed gene: CFC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, autosomal 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.103 SCNN1G Crystle Lee gene: SCNN1G was added
gene: SCNN1G was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 22207244; 31655555; 30801930; 28484659
Phenotypes for gene: SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071); Liddle syndrome 2 (MIM#618114); Pseudohypoaldosteronism, type I (MIM#264350)
Review for gene: SCNN1G was set to AMBER
Added comment: Encodes for the gamma subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244). Respiratory problems is a feature of pseudohypoaldosteronism Type I. Minimal reports to date.

Kozina 2019; PMID: 31655555: Reported one family and reviewed 6 other families with het truncating variants in SCNN1G causing Liddle syndrome. Unsure if features resemble ciliopathies

Bush 2019; PMID: 30801930; ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative

Nur 2017; PMID: 28484659; Review of PHA1. 2 patients reported with biallelic LoF type variants in SCNN1G.
Sources: Expert Review
Ciliary Dyskinesia v0.45 SPAG1 Crystle Lee reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112; Phenotypes: Ciliary dyskinesia, primary, 28 (MIM#615505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.103 PMM2 Crystle Lee gene: PMM2 was added
gene: PMM2 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 28108845
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia (MIM#212065)
Review for gene: PMM2 was set to AMBER
Added comment: Encodes for phosphomannomutase 2 required for glycosylation. Not a ciliopathy gene however CDG has many overlapping features with ciliopathy. Left as Amber.

PMID: 28108845: Review article. Well reported gene causing CDG. >700 patients reported

PMID: 25497157; Many patients reported. Similar features as ciliopathies
Sources: Expert Review
Ciliopathies v0.103 PRKCSH Crystle Lee reviewed gene: PRKCSH: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19876928; Phenotypes: Polycystic liver disease 1 (MIM#174050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliary Dyskinesia v0.45 CFAP53 Elena Savva gene: CFAP53 was added
gene: CFAP53 was added to Ciliary Dyskinesia. 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 primary cilia dyskinesia conditions + animal models
Sources: Literature
Ciliopathies v0.103 CFAP53 Elena Savva reviewed gene: CFAP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID:28621423, 22577226, 26531781; Phenotypes: Heterotaxy, visceral, 6, autosomal recessive 614779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 TTC25 Crystle Lee gene: TTC25 was added
gene: TTC25 was added to Ciliary Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC25 were set to 27486780
Phenotypes for gene: TTC25 were set to Ciliary dyskinesia, primary, 35 (MIM#617092)
Review for gene: TTC25 was set to AMBER
Added comment: 2 families reported with PCD. Mouse model showed immotile nodal cilia. Left as amber for now.

Gene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats
(Gene is non coding in gnomad v2 and coding in v3)
Sources: Expert Review
Mendeliome v0.2742 CFAP43 Elena Savva gene: CFAP43 was added
gene: CFAP43 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551
Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592
Added comment: aka WDR96

PMID: 31884020 - animal models (mouse, frog) demonstrate the protein localizes in ciliary axoneme and is involved in MOTILE cilia movement. LOF CFAP43 caused mucus acucmulation in airways, impaired spermatogenesis and hydrocephalus.

PMID: 28552195 - 3x chet (bilallelic PTCs or chet PTC/missense) with abnormal sperm motility. Null mouse models were also infertile.

PMID: 31004071 - one family with a heterozygous nonsense and AD inheritance of late onset hydrocephaly (checked in Mutalyzer, variant is NMD predicted). Abnormal cilia observed from mucosa sample. Null mice also show abnormal sperm and dilation of brain ventricles.

PMID: 29449551 - reports an additional 10 patients with either homozygous PTCs or chet PTC/missense who were infertile with flagella defects

Summary: single report of AD hydrocephaly
Sources: Literature
Ciliary Dyskinesia v0.45 CFAP43 Elena Savva gene: CFAP43 was added
gene: CFAP43 was added to Ciliary Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551
Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592
Review for gene: CFAP43 was set to GREEN
Added comment: aka WDR96

PMID: 31884020 - animal models (mouse, frog) demonstrate the protein localizes in ciliary axoneme and is involved in MOTILE cilia movement. LOF CFAP43 caused mucus acucmulation in airways, impaired spermatogenesis and hydrocephalus.

PMID: 28552195 - 3x chet (bilallelic PTCs or chet PTC/missense) with abnormal sperm motility. Null mouse models were also infertile.

PMID: 31004071 - one family with a heterozygous nonsense and AD inheritance of late onset hydrocephaly (checked in Mutalyzer, variant is NMD predicted). Abnormal cilia observed from mucosa sample. Null mice also show abnormal sperm and dilation of brain ventricles.

PMID: 29449551 - reports an additional 10 patients with either homozygous PTCs or chet PTC/missense who were infertile with flagella defects

Summary: single report of AD hydrocephaly
Sources: Expert Review
Leukodystrophy - adult onset v0.54 HEPACAM Zornitza Stark Marked gene: HEPACAM as ready
Leukodystrophy - adult onset v0.54 HEPACAM Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.54 HEPACAM Zornitza Stark Publications for gene: HEPACAM were set to
Leukodystrophy - adult onset v0.53 HEPACAM Zornitza Stark Mode of inheritance for gene: HEPACAM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.52 HEPACAM Zornitza Stark reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380, 21419380; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.112 HEPACAM Zornitza Stark Marked gene: HEPACAM as ready
Leukodystrophy - paediatric v0.112 HEPACAM Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.112 HEPACAM Zornitza Stark Classified gene: HEPACAM as Green List (high evidence)
Leukodystrophy - paediatric v0.112 HEPACAM Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.111 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEPACAM were set to 21419380; 21419380
Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926
Review for gene: HEPACAM was set to GREEN
Added comment: Multiple families reported with both mono-allelic and bi-allelic disease; bi-allelic disease is generally more severe. Onset is typically in infancy.
Sources: Expert list
Differences of Sex Development v0.24 MYRF Zornitza Stark Marked gene: MYRF as ready
Differences of Sex Development v0.24 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Differences of Sex Development v0.24 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Differences of Sex Development v0.24 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Mendeliome v0.2742 MYLK2 Zornitza Stark Marked gene: MYLK2 as ready
Mendeliome v0.2742 MYLK2 Zornitza Stark Gene: mylk2 has been classified as Red List (Low Evidence).
Mendeliome v0.2742 MYLK2 Zornitza Stark Phenotypes for gene: MYLK2 were changed from to Cardiomyopathy, hypertrophic, 1, digenic, 192600
Mendeliome v0.2741 MYLK2 Zornitza Stark Publications for gene: MYLK2 were set to
Mendeliome v0.2740 MYLK2 Zornitza Stark Mode of inheritance for gene: MYLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2739 MYLK2 Zornitza Stark Classified gene: MYLK2 as Red List (low evidence)
Mendeliome v0.2739 MYLK2 Zornitza Stark Gene: mylk2 has been classified as Red List (Low Evidence).
Mendeliome v0.2738 MYLK2 Zornitza Stark reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: 11733062, 24082139, 25825456, 20301725; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic, 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v0.28 MYLK2 Zornitza Stark Marked gene: MYLK2 as ready
Hypertrophic cardiomyopathy_HCM v0.28 MYLK2 Zornitza Stark Gene: mylk2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy_HCM v0.28 MYLK2 Zornitza Stark Phenotypes for gene: MYLK2 were changed from to Cardiomyopathy, hypertrophic, 1, digenic, 192600
Hypertrophic cardiomyopathy_HCM v0.27 MYLK2 Zornitza Stark Publications for gene: MYLK2 were set to
Hypertrophic cardiomyopathy_HCM v0.26 MYLK2 Zornitza Stark Mode of pathogenicity for gene: MYLK2 was changed from to Other
Hypertrophic cardiomyopathy_HCM v0.25 MYLK2 Zornitza Stark Mode of inheritance for gene: MYLK2 was changed from Unknown to Other
Hypertrophic cardiomyopathy_HCM v0.24 MYLK2 Zornitza Stark Classified gene: MYLK2 as Red List (low evidence)
Hypertrophic cardiomyopathy_HCM v0.24 MYLK2 Zornitza Stark Gene: mylk2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy_HCM v0.23 MYLK2 Kristin Rigbye reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: Other; Publications: 11733062, 24082139, 25825456, 20301725; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic, 192600; Mode of inheritance: Other
Mendeliome v0.2738 CDX2 Zornitza Stark Marked gene: CDX2 as ready
Mendeliome v0.2738 CDX2 Zornitza Stark Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2738 CDX2 Zornitza Stark Phenotypes for gene: CDX2 were changed from to Persistent cloaca
Mendeliome v0.2737 CDX2 Zornitza Stark Publications for gene: CDX2 were set to
Mendeliome v0.2736 CDX2 Zornitza Stark Mode of inheritance for gene: CDX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2735 CDX2 Zornitza Stark Classified gene: CDX2 as Amber List (moderate evidence)
Mendeliome v0.2735 CDX2 Zornitza Stark Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2734 CDX2 Zornitza Stark reviewed gene: CDX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29177441; Phenotypes: Persistent cloaca; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.110 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Leukodystrophy - paediatric v0.110 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.110 GLB1 Zornitza Stark Classified gene: GLB1 as Green List (high evidence)
Leukodystrophy - paediatric v0.110 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.109 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 25691190
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600
Review for gene: GLB1 was set to GREEN
Added comment: Sources: Expert list
Leukodystrophy - adult onset v0.52 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Leukodystrophy - adult onset v0.52 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.52 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, MIM# 608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.108 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Leukodystrophy - paediatric v0.108 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.108 GJC2 Zornitza Stark Classified gene: GJC2 as Green List (high evidence)
Leukodystrophy - paediatric v0.108 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.107 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to 22669416; 24374284; 15192806
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM# 608804
Review for gene: GJC2 was set to GREEN
Added comment: Multiple affected families reported, onset is typically in infancy.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.14 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Hereditary Spastic Paraplegia - adult onset v0.14 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.14 GJA1 Zornitza Stark Classified gene: GJA1 as Green List (high evidence)
Hereditary Spastic Paraplegia - adult onset v0.14 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.13 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 31023660
Phenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Review for gene: GJA1 was set to GREEN
Added comment: 8 individuals from 5 families with oculodentodigital dysplasia presenting in adulthood with onset of spastic paraplegia and white matter changes on imaging.
Sources: Expert list
Leukodystrophy - adult onset v0.52 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Leukodystrophy - adult onset v0.52 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.52 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Leukodystrophy - adult onset v0.51 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Leukodystrophy - adult onset v0.50 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31023660; Phenotypes: Hereditary spastic paraplegia, Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.50 GFAP Zornitza Stark Marked gene: GFAP as ready
Leukodystrophy - adult onset v0.50 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.50 GFAP Zornitza Stark reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM# 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.106 GFAP Zornitza Stark Marked gene: GFAP as ready
Leukodystrophy - paediatric v0.106 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.106 GFAP Zornitza Stark Classified gene: GFAP as Green List (high evidence)
Leukodystrophy - paediatric v0.106 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.105 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GFAP were set to Alexander disease, MIM# 203450
Review for gene: GFAP was set to GREEN
Added comment: 3 forms of Alexander disease are recognised, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity.
Sources: Expert list
Leukodystrophy - adult onset v0.50 GALC Zornitza Stark Marked gene: GALC as ready
Leukodystrophy - adult onset v0.50 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.50 GALC Zornitza Stark reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Krabbe disease, MIM# 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.104 GALC Zornitza Stark Marked gene: GALC as ready
Leukodystrophy - paediatric v0.104 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.104 GALC Zornitza Stark Classified gene: GALC as Green List (high evidence)
Leukodystrophy - paediatric v0.104 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.103 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, MIM# 245200
Review for gene: GALC was set to GREEN
Added comment: Typically presents in infancy, though later onset in childhood, adolescence and adulthood described.
Sources: Expert list
Leukodystrophy - paediatric v0.102 EPRS Zornitza Stark Marked gene: EPRS as ready
Leukodystrophy - paediatric v0.102 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.102 EPRS Zornitza Stark Classified gene: EPRS as Green List (high evidence)
Leukodystrophy - paediatric v0.102 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.101 EPRS Zornitza Stark gene: EPRS was added
gene: EPRS was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 29576217
Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM# 617951
Review for gene: EPRS was set to GREEN
Added comment: Four unrelated families reported with this neurodegenerative disorder. Onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, dysphagia, severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum.
Sources: Expert list
Leukodystrophy - paediatric v0.100 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Leukodystrophy - paediatric v0.100 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.100 EIF2B5 Zornitza Stark Classified gene: EIF2B5 as Green List (high evidence)
Leukodystrophy - paediatric v0.100 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.99 EIF2B5 Zornitza Stark gene: EIF2B5 was added
gene: EIF2B5 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896
Review for gene: EIF2B5 was set to GREEN
Added comment: Age of onset can vary from infancy to adulthood.
Sources: Expert list
Leukodystrophy - paediatric v0.98 EIF2B4 Zornitza Stark Marked gene: EIF2B4 as ready
Leukodystrophy - paediatric v0.98 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.98 EIF2B4 Zornitza Stark Classified gene: EIF2B4 as Green List (high evidence)
Leukodystrophy - paediatric v0.98 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.97 EIF2B4 Zornitza Stark gene: EIF2B4 was added
gene: EIF2B4 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896
Review for gene: EIF2B4 was set to GREEN
Added comment: Onset can vary from infancy to adulthood.
Sources: Expert list
Leukodystrophy - paediatric v0.96 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
Leukodystrophy - paediatric v0.96 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.96 EIF2B3 Zornitza Stark Classified gene: EIF2B3 as Green List (high evidence)
Leukodystrophy - paediatric v0.96 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.95 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896
Review for gene: EIF2B3 was set to GREEN
Added comment: Age of onset can vary from infancy to adulthood.
Sources: Expert list
Leukodystrophy - paediatric v0.94 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Leukodystrophy - paediatric v0.94 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.94 EIF2B2 Zornitza Stark Classified gene: EIF2B2 as Green List (high evidence)
Leukodystrophy - paediatric v0.94 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.93 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896
Review for gene: EIF2B2 was set to GREEN
Added comment: Age of onset can vary from infancy to adulthood.
Sources: Expert list
Leukodystrophy - paediatric v0.92 EIF2B1 Zornitza Stark Marked gene: EIF2B1 as ready
Leukodystrophy - paediatric v0.92 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.92 EIF2B1 Zornitza Stark Classified gene: EIF2B1 as Green List (high evidence)
Leukodystrophy - paediatric v0.92 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.91 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896
Review for gene: EIF2B1 was set to GREEN
Added comment: Age of onset can vary from infancy to adulthood.
Sources: Expert list
Leukodystrophy - adult onset v0.50 EARS2 Zornitza Stark Marked gene: EARS2 as ready
Leukodystrophy - adult onset v0.50 EARS2 Zornitza Stark Gene: ears2 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.50 EARS2 Zornitza Stark Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924 to Combined oxidative phosphorylation deficiency 12, 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Leukodystrophy - adult onset v0.49 EARS2 Zornitza Stark Publications for gene: EARS2 were set to
Leukodystrophy - adult onset v0.48 EARS2 Zornitza Stark Classified gene: EARS2 as Red List (low evidence)
Leukodystrophy - adult onset v0.48 EARS2 Zornitza Stark Gene: ears2 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.47 EARS2 Zornitza Stark edited their review of gene: EARS2: Changed rating: RED
Leukodystrophy - adult onset v0.47 EARS2 Zornitza Stark reviewed gene: EARS2: Rating: ; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310; Phenotypes: Combined oxidative phosphorylation deficiency 12, MIM# 614924, Leukoencephalopathy with thalamus and brainstem involvement and high lactate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.90 EARS2 Zornitza Stark Marked gene: EARS2 as ready
Leukodystrophy - paediatric v0.90 EARS2 Zornitza Stark Gene: ears2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.90 EARS2 Zornitza Stark Classified gene: EARS2 as Green List (high evidence)
Leukodystrophy - paediatric v0.90 EARS2 Zornitza Stark Gene: ears2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.89 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EARS2 were set to 22492562; 23008233; 25854774; 26619324; 26893310
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, MIM# 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Review for gene: EARS2 was set to GREEN
Added comment: Multiple families reported, onset typically in infancy/childhood.
Sources: Expert list
Ciliopathies v0.103 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Ciliopathies v0.103 SEC63 Zornitza Stark Added comment: Comment when marking as ready: Agree, not a ciliopathy. Retain as Amber due to phenotypic overlap.
Ciliopathies v0.103 SEC63 Zornitza Stark Gene: sec63 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.103 SEC63 Zornitza Stark Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2 (MIM#617004)
Ciliopathies v0.102 SEC63 Zornitza Stark Publications for gene: SEC63 were set to
Ciliopathies v0.101 SEC63 Zornitza Stark Mode of inheritance for gene: SEC63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.100 SEC63 Zornitza Stark Classified gene: SEC63 as Amber List (moderate evidence)
Ciliopathies v0.100 SEC63 Zornitza Stark Gene: sec63 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.99 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Ciliopathies v0.99 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.99 CEP55 Zornitza Stark Phenotypes for gene: CEP55 were changed from to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500
Ciliopathies v0.98 CEP55 Zornitza Stark Publications for gene: CEP55 were set to
Ciliopathies v0.97 CEP55 Zornitza Stark Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.96 CEP55 Zornitza Stark Classified gene: CEP55 as Amber List (moderate evidence)
Ciliopathies v0.96 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.14 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.14 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.20 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Skeletal dysplasia v0.20 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.20 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.20 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.19 TAPT1 Zornitza Stark reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.14 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Osteogenesis Imperfecta and Osteoporosis v0.13 TAPT1 Zornitza Stark Publications for gene: TAPT1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.12 TAPT1 Zornitza Stark Mode of inheritance for gene: TAPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.12 TAPT1 Zornitza Stark Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.11 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.11 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.10 TAPT1 Zornitza Stark reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2734 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Mendeliome v0.2734 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2734 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Mendeliome v0.2733 TAPT1 Zornitza Stark Publications for gene: TAPT1 were set to
Mendeliome v0.2732 TAPT1 Zornitza Stark Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2731 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Mendeliome v0.2731 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2730 TAPT1 Zornitza Stark reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.95 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Ciliopathies v0.95 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Ciliopathies v0.95 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.95 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Ciliopathies v0.94 TAPT1 Zornitza Stark Publications for gene: TAPT1 were set to
Ciliopathies v0.93 TAPT1 Zornitza Stark Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.92 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Ciliopathies v0.92 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.48 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Joubert syndrome and other neurological ciliopathies v0.48 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.48 CCDC28B Zornitza Stark Classified gene: CCDC28B as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.48 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2730 CCDC28B Zornitza Stark Classified gene: CCDC28B as Amber List (moderate evidence)
Mendeliome v0.2730 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2729 CCDC28B Zornitza Stark edited their review of gene: CCDC28B: Added comment: PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS.; Changed rating: AMBER; Changed publications: 32139166; Changed phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900, Joubert syndrome
Joubert syndrome and other neurological ciliopathies v0.47 CCDC28B Zornitza Stark gene: CCDC28B was added
gene: CCDC28B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 32139166
Phenotypes for gene: CCDC28B were set to Joubert syndrome
Review for gene: CCDC28B was set to AMBER
Added comment: PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2619 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Intellectual disability syndromic and non-syndromic v0.2619 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2619 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, MIM# 617622 to Joubert syndrome 30, MIM# 617622
Ciliopathies v0.91 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Joubert syndrome
Ciliopathies v0.90 CCDC28B Zornitza Stark Publications for gene: CCDC28B were set to 32139166
Ciliopathies v0.90 CCDC28B Zornitza Stark Publications for gene: CCDC28B were set to
Ciliopathies v0.89 CCDC28B Zornitza Stark Classified gene: CCDC28B as Amber List (moderate evidence)
Ciliopathies v0.89 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2729 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Mendeliome v0.2729 C21orf59 Zornitza Stark Added comment: Comment when marking as ready: p.Tyr245* recurrent in the Ashkenazi Jewish population
Mendeliome v0.2729 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Mendeliome v0.2729 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
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.
Ciliary Dyskinesia v0.45 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
Ciliary Dyskinesia v0.45 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to 24094744
Ciliopathies v0.88 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Ciliopathies v0.88 VPS13B Zornitza Stark Added comment: Comment when marking as ready: Agree retinopathy, obesity and ID overlap significantly with typical phenotypic features of ciliopathies, therefore reasonable to include in this panel even though not strictly a ciliopathy.
Ciliopathies v0.88 VPS13B Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.88 VPS13B Zornitza Stark Classified gene: VPS13B as Amber List (moderate evidence)
Ciliopathies v0.88 VPS13B Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2729 C11orf70 Zornitza Stark Marked gene: C11orf70 as ready
Mendeliome v0.2729 C11orf70 Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence).
Mendeliome v0.2729 C11orf70 Zornitza Stark Tag new gene name tag was added to gene: C11orf70.
Mendeliome v0.2729 C11orf70 Zornitza Stark Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, MIM# 618063
Mendeliome v0.2728 C11orf70 Zornitza Stark Publications for gene: C11orf70 were set to
Mendeliome v0.2727 C11orf70 Zornitza Stark Mode of inheritance for gene: C11orf70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2726 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
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Tag new gene name tag was added to gene: C11orf70.
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.
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Marked gene: C11orf70 as ready
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Classified gene: C11orf70 as Green List (high evidence)
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2618 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from to Joubert syndrome 30, MIM# 617622
Intellectual disability syndromic and non-syndromic v0.2617 ARMC9 Zornitza Stark Publications for gene: ARMC9 were set to
Intellectual disability syndromic and non-syndromic v0.2616 ARMC9 Zornitza Stark Mode of inheritance for gene: ARMC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2615 ARMC9 Zornitza Stark reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28625504; Phenotypes: Joubert syndrome 30, MIM# 617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.46 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Joubert syndrome and other neurological ciliopathies v0.46 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.46 ARMC9 Zornitza Stark Classified gene: ARMC9 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.46 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Mendeliome v0.2726 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Mendeliome v0.2726 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Mendeliome v0.2726 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from to Joubert syndrome 30, MIM#617622
Mendeliome v0.2725 ARMC9 Zornitza Stark Publications for gene: ARMC9 were set to
Mendeliome v0.2724 ARMC9 Zornitza Stark Mode of inheritance for gene: ARMC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2723 ARMC9 Zornitza Stark Deleted their comment
Mendeliome v0.2723 ARMC9 Zornitza Stark edited their review of gene: ARMC9: Added comment: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis PMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia.; Changed rating: GREEN; Changed publications: 28625504
Joubert syndrome and other neurological ciliopathies v0.45 ARMC9 Zornitza Stark gene: ARMC9 was added
gene: ARMC9 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, MIM# 617622
Review for gene: ARMC9 was set to GREEN
Added comment: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis PMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia.
Sources: Expert list
Ciliopathies v0.87 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Ciliopathies v0.87 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Ciliopathies v0.87 ARMC9 Zornitza Stark Classified gene: ARMC9 as Green List (high evidence)
Ciliopathies v0.87 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Polydactyly v0.22 ARMC8 Zornitza Stark Marked gene: ARMC8 as ready
Polydactyly v0.22 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Polydactyly v0.22 ARMC8 Zornitza Stark Classified gene: ARMC8 as Red List (low evidence)
Polydactyly v0.22 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Polydactyly v0.21 ARMC8 Zornitza Stark reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2723 ARMC8 Zornitza Stark Marked gene: ARMC8 as ready
Mendeliome v0.2723 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Mendeliome v0.2723 ARMC8 Zornitza Stark Classified gene: ARMC8 as Red List (low evidence)
Mendeliome v0.2723 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Mendeliome v0.2722 ARMC8 Zornitza Stark reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.44 ARMC8 Zornitza Stark Marked gene: ARMC8 as ready
Joubert syndrome and other neurological ciliopathies v0.44 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.44 ARMC8 Zornitza Stark Classified gene: ARMC8 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.44 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.43 ARMC8 Zornitza Stark reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2722 ARMC4 Zornitza Stark Marked gene: ARMC4 as ready
Mendeliome v0.2722 ARMC4 Zornitza Stark Gene: armc4 has been classified as Green List (High Evidence).
Ciliopathies v0.86 ARMC8 Zornitza Stark Marked gene: ARMC8 as ready
Ciliopathies v0.86 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Ciliopathies v0.86 ARMC8 Zornitza Stark Classified gene: ARMC8 as Red List (low evidence)
Ciliopathies v0.86 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Mendeliome v0.2722 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from to Ciliary dyskinesia, primary, 23, MIM# 615451
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).
Mendeliome v0.2721 ARMC4 Zornitza Stark Publications for gene: ARMC4 were set to
Mendeliome v0.2720 ARMC4 Zornitza Stark Mode of inheritance for gene: ARMC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2719 ARMC4 Zornitza Stark reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31765523, 23849778; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Ciliary Dyskinesia v0.43 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from to Ciliary dyskinesia, primary, 23, MIM# 615451
Ciliary Dyskinesia v0.42 ARMC4 Zornitza Stark Publications for gene: ARMC4 were set to
Ciliary Dyskinesia v0.41 ARMC4 Zornitza Stark Mode of inheritance for gene: ARMC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.85 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis (MIM#603671) to Acromelic frontonasal dysostosis (MIM#603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Added comment: Comment when marking as ready: Agree, link to cilia not well established.
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Amber List (moderate evidence)
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.33 ACVR2B Zornitza Stark Phenotypes for gene: ACVR2B were changed from to Heterotaxy, visceral, 4, autosomal 613751
Mendeliome v0.2719 ACVR2B Zornitza Stark Marked gene: ACVR2B as ready
Mendeliome v0.2719 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Mendeliome v0.2719 ACVR2B Zornitza Stark Phenotypes for gene: ACVR2B were changed from to Heterotaxy, visceral, 4, autosomal 613751
Congenital Heart Defect v0.32 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to
Mendeliome v0.2718 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to
Mendeliome v0.2717 ACVR2B Zornitza Stark Mode of inheritance for gene: ACVR2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2716 ACVR2B Zornitza Stark Classified gene: ACVR2B as Red List (low evidence)
Mendeliome v0.2716 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Mendeliome v0.2715 ACVR2B Zornitza Stark reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.31 ACVR2B Zornitza Stark Mode of inheritance for gene: ACVR2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.30 ACVR2B Zornitza Stark Classified gene: ACVR2B as Red List (low evidence)
Congenital Heart Defect v0.30 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.29 ACVR2B Zornitza Stark reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.83 ACVR2B Zornitza Stark Phenotypes for gene: ACVR2B were changed from to Heterotaxy, visceral, 4, autosomal 613751
Ciliopathies v0.82 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to 9916847; 30622330; 21864452
Ciliopathies v0.82 ACVR2B Zornitza Stark Tag disputed tag was added to gene: ACVR2B.
Ciliopathies v0.82 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to
Ciliopathies v0.81 ACVR2B Zornitza Stark Mode of inheritance for gene: ACVR2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.80 ACVR2B Zornitza Stark Classified gene: ACVR2B as Red List (low evidence)
Ciliopathies v0.80 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Ciliopathies v0.79 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Ciliopathies v0.79 WDR81 Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence).
Ciliopathies v0.79 WDR81 Zornitza Stark Classified gene: WDR81 as Red List (low evidence)
Ciliopathies v0.79 WDR81 Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.43 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Joubert syndrome and other neurological ciliopathies v0.43 WDR81 Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.43 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185; Hydrocephalus, congenital, 3, with brain anomalies 617967
Joubert syndrome and other neurological ciliopathies v0.42 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Joubert syndrome and other neurological ciliopathies v0.41 WDR81 Zornitza Stark Mode of inheritance for gene: WDR81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.40 WDR81 Zornitza Stark Classified gene: WDR81 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.40 WDR81 Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.39 WDR81 Zornitza Stark reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: None; Publications: 28556411, 21885617; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185, Hydrocephalus, congenital, 3, with brain anomalies 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 SEC63 Crystle Lee reviewed gene: SEC63: Rating: AMBER; Mode of pathogenicity: None; Publications: 15133510, 19876928; Phenotypes: Polycystic liver disease 2 (MIM#617004); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.78 CEP55 Elena Savva reviewed gene: CEP55: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28264986, 28295209, 32100459; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 CEP55 Elena Savva Deleted their review
Ciliopathies v0.78 CEP55 Elena Savva reviewed gene: CEP55: Rating: ; Mode of pathogenicity: None; Publications: PMID: 28264986; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 TAPT1 Crystle Lee changed review comment from: 2 families reported with function studies showing absent or abnormal primary cillia formation.

PMID: 26365339; Reported 2 consang fam (1 splice and 1 missense) with Complex Lethal Osteochondrodysplasia. Functional studies showed abnormal ciliogenesis. Tapt1b deficient zebrafish showed decreased cilial length; to: 2 families reported with function studies showing absent or abnormal primary cillia formation. Amber/Green pending additional reports

PMID: 26365339; Reported 2 consang fam (1 splice and 1 missense) with Complex Lethal Osteochondrodysplasia. Functional studies showed abnormal ciliogenesis. Tapt1b deficient zebrafish showed decreased cilial length
Ciliopathies v0.78 TAPT1 Crystle Lee reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 CCDC28B Elena Savva reviewed gene: CCDC28B: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 32139166; Phenotypes: {Bardet-Biedl syndrome 1, modifier of} 209900, Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.40 C21orf59 Elena Savva reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24094744, 26904945; Phenotypes: Ciliary dyskinesia, primary, 26 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 VPS13B Crystle Lee gene: VPS13B was added
gene: VPS13B was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome (MIM# 216550)
Review for gene: VPS13B was set to AMBER
Added comment: Well reported to cause Cohen syndrome, however, protein forms part of the golgi apparatus and plays an important role in glycosylation. Unsure if ciliopathy?

PanelApp UK: Was confirmed with the Clinical Team that this gene should be green on this panel.
Sources: Expert Review
Ciliary Dyskinesia v0.40 C11orf70 Elena Savva gene: C11orf70 was added
gene: C11orf70 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C11orf70 were set to PMID: 29727693; 29727692
Phenotypes for gene: C11orf70 were set to Ciliary dyskinesia, primary, 38 618063
Review for gene: C11orf70 was set to GREEN
Added comment: aka CFAP300

OMIM: CFAP300 is an evolutionarily conserved protein essential for assembly of dynein arms.

PMID: 29727692 - 2 unrelated families, one with a homozygous missense, the other chet for two PTCs. Patients have immotile respiratory cilia. Paramecium knockouts have lost cilia and swimming velocity,

PMID: 29727693 - 5 families with biallelic PTCs. Patients had increased respiratory infections and 1 situs invertus
Sources: Expert list
Ciliopathies v0.78 ARMC9 Elena Savva gene: ARMC9 was added
gene: ARMC9 was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to PMID: 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 617622 AR
Review for gene: ARMC9 was set to GREEN
Added comment: OMIM: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis

PMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia.
Sources: Expert list
Polydactyly v0.21 ARMC8 Elena Savva reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2715 ARMC8 Elena Savva reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.39 ARMC8 Elena Savva reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.78 ARMC8 Elena Savva reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliary Dyskinesia v0.40 ARMC4 Elena Savva reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31765523; Phenotypes: Ciliary dyskinesia, primary, 23 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 ZSWIM6 Crystle Lee gene: ZSWIM6 was added
gene: ZSWIM6 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZSWIM6 were set to 25105228; 28213462; 29198722
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (MIM#603671)
Mode of pathogenicity for gene: ZSWIM6 was set to Other
Review for gene: ZSWIM6 was set to AMBER
Added comment: Minimal reports to date. Acromelic frontonasal dysostosis considered as likely ciliopathy in one paper.

PMID: 25105228: 4 pts with AFND (Arg1163Trp)

PMID: 28213462; AFND caused by this gene was classified as "Likely ciliopathy"

PMID: 29198722; Reported 7 unrelated individuals with a recurrent truncating variant. This patients were "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features". No functional studies performed but postulated to be dominant-negative.

Rated green in PanelApp UK - Rare multisystem ciliopathy disorders list
Sources: Expert Review
Mendeliome v0.2715 ACVR2B Elena Savva reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.78 ACVR2B Elena Savva reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.78 WDR81 Elena Savva gene: WDR81 was added
gene: WDR81 was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to PMID: 28556411; 21885617
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185; Hydrocephalus, congenital, 3, with brain anomalies 617967
Review for gene: WDR81 was set to RED
Added comment: No mention of ciliary involvement in OMIM

PMID: 28556411 - 2 families with congenital hydrocephalus, families were homozygous for a PTC and missense

PMID: 21885617 - 1 super giant family with a homozygous missense. Authors describe the protein as transmembrane protein where the WD repeats support of beta propeller component. Mouse model also described, no mention of a Joubert-type phenotype
Sources: Expert list
Ciliopathies v0.78 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Ciliopathies v0.78 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Ciliopathies v0.78 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Ciliopathies v0.78 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Ciliopathies v0.78 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Ciliopathies v0.78 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Ciliopathies v0.77 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Ciliopathies v0.77 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Ciliopathies v0.77 Zornitza Stark removed gene:NID1 from the panel
Ciliopathies v0.76 Zornitza Stark removed gene:VLDLR from the panel
Ciliopathies v0.76 Zornitza Stark removed gene:WNT1 from the panel
Ciliopathies v0.76 Zornitza Stark removed gene:ZIC1 from the panel
Mendeliome v0.2715 NID1 Zornitza Stark Marked gene: NID1 as ready
Mendeliome v0.2715 NID1 Zornitza Stark Gene: nid1 has been classified as Green List (High Evidence).
Mendeliome v0.2715 NID1 Zornitza Stark Phenotypes for gene: NID1 were changed from to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures
Mendeliome v0.2714 NID1 Zornitza Stark Publications for gene: NID1 were set to
Mendeliome v0.2713 NID1 Zornitza Stark Mode of inheritance for gene: NID1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.116 ZIC4 Crystle Lee reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.2712 NID1 Zornitza Stark reviewed gene: NID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23674478, 25558065, 12480912, 30773799; Phenotypes: Dandy-Walker malformation and occipital cephalocele, Hydrocephalus with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2712 ZIC4 Crystle Lee reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Joubert syndrome and other neurological ciliopathies v0.39 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Joubert syndrome and other neurological ciliopathies v0.39 WNT1 Zornitza Stark Gene: wnt1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.39 WNT1 Zornitza Stark Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV (MIM#615220)
Joubert syndrome and other neurological ciliopathies v0.38 WNT1 Zornitza Stark Publications for gene: WNT1 were set to
Joubert syndrome and other neurological ciliopathies v0.37 WNT1 Zornitza Stark Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.445 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.36 NID1 Zornitza Stark Marked gene: NID1 as ready
Joubert syndrome and other neurological ciliopathies v0.36 NID1 Zornitza Stark Gene: nid1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.36 NID1 Zornitza Stark Phenotypes for gene: NID1 were changed from to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures
Joubert syndrome and other neurological ciliopathies v0.35 NID1 Zornitza Stark Publications for gene: NID1 were set to
Joubert syndrome and other neurological ciliopathies v0.34 NID1 Zornitza Stark Mode of inheritance for gene: NID1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.75 ICK Zornitza Stark Marked gene: ICK as ready
Ciliopathies v0.75 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Ciliopathies v0.75 ICK Zornitza Stark Classified gene: ICK as Green List (high evidence)
Ciliopathies v0.75 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.33 ZIC4 Zornitza Stark Marked gene: ZIC4 as ready
Joubert syndrome and other neurological ciliopathies v0.33 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.33 ZIC4 Zornitza Stark Publications for gene: ZIC4 were set to
Joubert syndrome and other neurological ciliopathies v0.32 ZIC4 Zornitza Stark Classified gene: ZIC4 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.32 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.31 NID1 Zornitza Stark Classified gene: NID1 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.31 NID1 Zornitza Stark Gene: nid1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.30 NID1 Zornitza Stark reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23674478, 25558065, 12480912, 30773799; Phenotypes: Dandy-Walker malformation and occipital cephalocele, Hydrocephalus with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.30 Zornitza Stark Panel name changed from Joubert syndrome and other cerebellar malformations to Joubert syndrome and other neurological ciliopathies
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Joubert syndrome and other neurological ciliopathies v0.29 ZIC1 Zornitza Stark Marked gene: ZIC1 as ready
Joubert syndrome and other neurological ciliopathies v0.29 ZIC1 Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.29 ZIC1 Zornitza Stark Phenotypes for gene: ZIC1 were changed from to Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)
Ciliopathies v0.74 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Ciliopathies v0.74 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Ciliopathies v0.74 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Ciliopathies v0.74 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.28 ZIC1 Zornitza Stark Mode of pathogenicity for gene: ZIC1 was changed from Other to Other
Joubert syndrome and other neurological ciliopathies v0.27 ZIC1 Zornitza Stark Mode of pathogenicity for gene: ZIC1 was changed from to Other
Joubert syndrome and other neurological ciliopathies v0.27 ZIC1 Zornitza Stark Publications for gene: ZIC1 were set to
Joubert syndrome and other neurological ciliopathies v0.26 ZIC1 Zornitza Stark Mode of inheritance for gene: ZIC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.25 ZIC1 Zornitza Stark Classified gene: ZIC1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.25 ZIC1 Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.24 ZIC1 Zornitza Stark reviewed gene: ZIC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.139 VLDLR Zornitza Stark edited their review of gene: VLDLR: Added comment: VLDLR guides neuroblast migration in the cerebral cortex and cerebellum (PMID: 16080122).

PMID: 16080122 - Whole gene homozygous deletion affecting 8 patients in 3 related Hutterite families. The deletion extended in neighbouring LOC401491 (no known function)
Patients displayed symptoms including delayed ambulation, truncal ataxia, strabismus and pes planus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging (MRI) demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.

PMID: 18326629 - Two families with homozygous PTCs. Patients had impaired cerebrocerebellar function including cerebrocerebellar hypoplasia, vermial hypoplasia, and gait.

PMID: 10380922 - Mouse models are neurologically normal. Knockout mice show malformation of neuronal layers, Purkinje cell assemble incorrectly, there are inverted cortical layers

Summary: 3 independant families + animal studies; Changed publications: 16080122, 18326629, 10380922
Joubert syndrome and other neurological ciliopathies v0.24 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Joubert syndrome and other neurological ciliopathies v0.24 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.24 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Joubert syndrome and other neurological ciliopathies v0.23 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.22 VLDLR Zornitza Stark Classified gene: VLDLR as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.22 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.21 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.21 WNT1 Zornitza Stark Classified gene: WNT1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.21 WNT1 Zornitza Stark Gene: wnt1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.20 WNT1 Zornitza Stark reviewed gene: WNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.73 WNT1 Crystle Lee gene: WNT1 was added
gene: WNT1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT1 were set to 26671912; 23499309; 23434763
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV (MIM#615220)
Added comment: WNT1 causes AR OI, brain (cerebellar) malformations not a consistent feature.

PMID: 26671912; Reviewed clinical and brain imaging of 6 patients from 4 families (2 unrelated Hmong fams with same variant, likely founder). Cerebellar hypoplasia in 5 of 6 patients with varied severity. Cerebellar abnormalities inconsistent between the 3 Hmong patients with same variant.

PMID: 23499309; Reported hom variants in 5 consang fams with autosomal-recessive OI. Ataxia, other signs of
cerebellar dysfunction not a key feature, only one patient showed brain malformations.

PMID: 23434763; Reported 3 families with OI, no brain malformations described.
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.20 WNT1 Crystle Lee reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26671912, 23499309, 23434763; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.73 VLDLR Elena Savva gene: VLDLR was added
gene: VLDLR was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VLDLR were set to PMID: 16080122; 18326629; 10380922
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 224050
Review for gene: VLDLR was set to GREEN
Added comment: VLDLR guides neuroblast migration in the cerebral cortex and cerebellum (PMID: 16080122).

PMID: 16080122 - Whole gene homozygous deletion affecting 8 patients in 3 related Hutterite families. The deletion extended in neighbouring LOC401491 (no known function)
Patients displayed symptoms including delayed ambulation, truncal ataxia, strabismus and pes planus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging (MRI) demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.

PMID: 18326629 - Two families with homozygous PTCs. Patients had impaired cerebrocerebellar function including cerebrocerebellar hypoplasia, vermial hypoplasia, and gait.

PMID: 10380922 - Mouse models are neurologically normal. Knockout mice show malformation of neuronal layers, Purkinje cell assemble incorrectly, there are inverted cortical layers

Summary: 3 independant families + animal studies
Sources: Expert list
Ciliopathies v0.73 ZIC1 Crystle Lee gene: ZIC1 was added
gene: ZIC1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZIC1 were set to 26340333; 9412507; 14981711
Phenotypes for gene: ZIC1 were set to Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)
Mode of pathogenicity for gene: ZIC1 was set to Other
Review for gene: ZIC1 was set to AMBER
Added comment: Single paper from 2015 with reports of variants in ZIC1 - unsure if JS phenotype? Amber/Red

PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients; to: Single paper from 2015 with reports of variants in ZIC1 - unsure if JS phenotype? Amber/Red

PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee Deleted their comment
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients; to: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia; to: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee commented on gene: ZIC1: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee edited their review of gene: ZIC1: Changed publications: 26340333, 9412507, 14981711
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 26340333, 9412507; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.73 PIBF1 Elena Savva gene: PIBF1 was added
gene: PIBF1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to PMID:26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: 7 families altogether: 3 of these are Hutterite and share the same founder variant.
Sources: Expert list
Sources: Expert Review
Ciliopathies v0.73 NID1 Elena Savva gene: NID1 was added
gene: NID1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NID1 were set to PMID: 23674478; 25558065; 12480912; 30773799
Phenotypes for gene: NID1 were set to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures
Added comment: no OMIM disease association

PMID: 23674478 - single Vietnamese family (14 affecteds) with Dandy-Walker variant/cerebellar vermal hypoplasia ± cephalocele had a heterozygous nonsense. Normal eye examination.

PMID: 25558065 - reports 2 sibs with hydrocephalus with a heterozygous splice variant resulting in an inframe insertion (confirmed by RT-PCR). Brother shows additional phenotypes of seizures and focal epilepsy.

PMID: 12480912 - mouse model with neurological deficits including seizure-like symptoms, altered basement membrane morphology in brain capillaries and the lens capsule.

PMID: 30773799 - 1 family Dandy-Walker malformation and occipital cephalocele with the nonsense from PMID: 23674478. Familial variation, affecteds lack cerebellar involvement

Summary: 3 families & animal model - hard to tell if the phenotype is related
Sources: Expert Review
Leukodystrophy - adult onset v0.47 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Leukodystrophy - adult onset v0.47 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.47 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Leukodystrophy - adult onset v0.46 DARS2 Zornitza Stark reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.88 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Leukodystrophy - paediatric v0.88 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.88 DARS2 Zornitza Stark Classified gene: DARS2 as Green List (high evidence)
Leukodystrophy - paediatric v0.88 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.87 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 17384640; 15002045; 16788019
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Review for gene: DARS2 was set to GREEN
Added comment: Slowly progressive disorder with variable age of onset, but onset of symptoms reported in childhood in many.
Sources: Expert list
Hereditary Spastic Paraplegia - paediatric v0.84 DARS Zornitza Stark Marked gene: DARS as ready
Hereditary Spastic Paraplegia - paediatric v0.84 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.84 DARS Zornitza Stark Classified gene: DARS as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v0.84 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.83 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Hereditary Spastic Paraplegia - paediatric v0.83 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 25527264; 23643384
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Review for gene: DARS was set to GREEN
Added comment: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2615 DARS Zornitza Stark Marked gene: DARS as ready
Intellectual disability syndromic and non-syndromic v0.2615 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2615 DARS Zornitza Stark Phenotypes for gene: DARS were changed from to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Intellectual disability syndromic and non-syndromic v0.2614 DARS Zornitza Stark Publications for gene: DARS were set to
Intellectual disability syndromic and non-syndromic v0.2613 DARS Zornitza Stark Mode of inheritance for gene: DARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2612 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Intellectual disability syndromic and non-syndromic v0.2612 DARS Zornitza Stark reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25527264, 23643384; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2712 DARS Zornitza Stark Marked gene: DARS as ready
Mendeliome v0.2712 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Mendeliome v0.2712 DARS Zornitza Stark Phenotypes for gene: DARS were changed from to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Mendeliome v0.2711 DARS Zornitza Stark Publications for gene: DARS were set to
Mendeliome v0.2710 DARS Zornitza Stark Mode of inheritance for gene: DARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2709 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Mendeliome v0.2709 DARS Zornitza Stark reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25527264, 23643384; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.6 DARS Zornitza Stark Marked gene: DARS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.6 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.6 DARS Zornitza Stark reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.46 DARS Zornitza Stark Marked gene: DARS as ready
Leukodystrophy - adult onset v0.46 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.46 DARS Zornitza Stark Publications for gene: DARS were set to
Leukodystrophy - adult onset v0.45 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Leukodystrophy - adult onset v0.45 DARS Zornitza Stark reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25527264, 23643384; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.20 ZIC4 Crystle Lee reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Leukodystrophy - paediatric v0.86 DARS Zornitza Stark Marked gene: DARS as ready
Leukodystrophy - paediatric v0.86 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.86 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Leukodystrophy - paediatric v0.86 DARS Zornitza Stark Classified gene: DARS as Green List (high evidence)
Leukodystrophy - paediatric v0.86 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.85 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 23643384
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Review for gene: DARS was set to GREEN
Added comment: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. HGNC approved name DARS1.
Sources: Expert list
Leukodystrophy - adult onset v0.45 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Leukodystrophy - adult onset v0.45 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.45 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Leukodystrophy - adult onset v0.44 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM# 615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.84 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Leukodystrophy - paediatric v0.84 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.84 CLCN2 Zornitza Stark Classified gene: CLCN2 as Green List (high evidence)
Leukodystrophy - paediatric v0.84 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.83 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCN2 were set to 23707145
Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, MIM# 615651
Review for gene: CLCN2 was set to GREEN
Added comment: At least six families reported, three with adult onset and three with childhood onset.
Sources: Expert list
Leukodystrophy - adult onset v0.44 ASPA Zornitza Stark Marked gene: ASPA as ready
Leukodystrophy - adult onset v0.44 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.44 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from 25655951; General Leukodystrophy & Mitochondrial Leukoencephalopathy to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Canavan disease, MIM# 271900
Ciliopathies v0.73 ICK Crystle Lee gene: ICK was added
gene: ICK was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 27466187; 24797473; 24853502
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia (MIM#612651)
Review for gene: ICK was set to GREEN
Added comment: 3 families reported, functional studies and animal models.

PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)

PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.

PMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects

PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis

PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis
Sources: Expert Review
Leukodystrophy - adult onset v0.43 ASPA Zornitza Stark Publications for gene: ASPA were set to
Leukodystrophy - adult onset v0.42 ASPA Zornitza Stark reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease, MIM# 271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 ICK Crystle Lee edited their review of gene: ICK: Changed publications: 19185282, 27069622, 27466187, 24797473, 24853502
Leukodystrophy - paediatric v0.82 ASPA Zornitza Stark Marked gene: ASPA as ready
Leukodystrophy - paediatric v0.82 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.82 ASPA Zornitza Stark Classified gene: ASPA as Green List (high evidence)
Leukodystrophy - paediatric v0.82 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.81 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease, MIM# 271900
Review for gene: ASPA was set to GREEN
Added comment: Congenital, infantile, and late-onset forms of Canavan disease reported.
Sources: Expert list
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 ICK Crystle Lee changed review comment from: 3 families reported, functional studies and animal models.

PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)

PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.

PMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects

PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis

PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis; to: 3 families reported, functional studies and animal models.

PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)

PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.

PMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects

PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis

PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 ICK Crystle Lee changed review comment from: 3 families reported, functional studies and animal models.

PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)

PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.

PMID:27069622; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS) . Functional studies showed that the variant caused ciliary defects

PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis

PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis; to: 3 families reported, functional studies and animal models.

PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)

PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.

PMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects

PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis

PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis
Leukodystrophy - adult onset v0.42 ARSA Zornitza Stark Marked gene: ARSA as ready
Leukodystrophy - adult onset v0.42 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.42 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.80 ARSA Zornitza Stark Marked gene: ARSA as ready
Leukodystrophy - paediatric v0.80 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.80 ARSA Zornitza Stark Classified gene: ARSA as Green List (high evidence)
Leukodystrophy - paediatric v0.80 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.79 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM# 250100
Review for gene: ARSA was set to GREEN
Added comment: More severe forms present in infancy/childhood.
Sources: Expert list
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 ICK Crystle Lee reviewed gene: ICK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19185282, 27069622, 27069622, 24797473, 24853502; Phenotypes: Endocrine-cerebroosteodysplasia (MIM#612651); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.42 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Leukodystrophy - adult onset v0.42 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.42 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome, MIM# 270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.78 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Leukodystrophy - paediatric v0.78 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.78 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Green List (high evidence)
Leukodystrophy - paediatric v0.78 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.77 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM# 270200
Review for gene: ALDH3A2 was set to GREEN
Added comment: Onset of signs and symptoms is typically in infancy, though white matter changes become more pronounced with age.
Sources: Expert list
Mendeliome v0.2709 CCDC65 Zornitza Stark Tag founder tag was added to gene: CCDC65.
Mendeliome v0.2709 CCDC65 Zornitza Stark Marked gene: CCDC65 as ready
Mendeliome v0.2709 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Green List (High Evidence).
Mendeliome v0.2709 CCDC65 Zornitza Stark Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504
Mendeliome v0.2708 CCDC65 Zornitza Stark Publications for gene: CCDC65 were set to
Mendeliome v0.2707 CCDC65 Zornitza Stark Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2706 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 v0.15 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
Ciliary Dyskinesia v0.40 CCDC65 Zornitza Stark Classified gene: CCDC65 as Green List (high evidence)
Ciliary Dyskinesia v0.40 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Deleted their review
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Deleted their comment
Ciliopathies v0.73 SCAPER Elena Savva gene: SCAPER was added
gene: SCAPER was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to PMID:30723319; 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome
Review for gene: SCAPER was set to GREEN
Added comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.
Sources: Literature
Sources: Expert Review
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Marked gene: CCDC65 as ready
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Added comment: Comment when marking as ready: Agree, single founder variant reported, functional data.
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504
Ciliary Dyskinesia v0.38 CCDC65 Zornitza Stark Publications for gene: CCDC65 were set to
Ciliary Dyskinesia v0.37 CCDC65 Zornitza Stark Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.36 CCDC65 Zornitza Stark Classified gene: CCDC65 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.36 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.35 CCDC65 Zornitza Stark Tag founder tag was added to gene: CCDC65.
Ciliary Dyskinesia v0.35 CCDC65 Elena Savva reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23991085, 24094744; Phenotypes: Ciliary dyskinesia, primary, 27 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.76 ADAR Zornitza Stark Marked gene: ADAR as ready
Leukodystrophy - paediatric v0.76 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.76 ADAR Zornitza Stark Classified gene: ADAR as Green List (high evidence)
Leukodystrophy - paediatric v0.76 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.75 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM# 615010
Review for gene: ADAR was set to GREEN
Added comment: White matter changes reported in some.
Sources: Expert list
Leukodystrophy - adult onset v0.42 APOPT1 Zornitza Stark edited their review of gene: APOPT1: Changed rating: RED
Leukodystrophy - adult onset v0.42 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Leukodystrophy - adult onset v0.42 APOPT1 Zornitza Stark Added comment: Comment when marking as ready: Moved to paediatric leukodystrophy panel.
Leukodystrophy - adult onset v0.42 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.42 APOPT1 Zornitza Stark Classified gene: APOPT1 as Red List (low evidence)
Leukodystrophy - adult onset v0.42 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.41 AUH Zornitza Stark Marked gene: AUH as ready
Leukodystrophy - adult onset v0.41 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.41 AUH Zornitza Stark Publications for gene: AUH were set to
Leukodystrophy - adult onset v0.40 CTSA Zornitza Stark Marked gene: CTSA as ready
Leukodystrophy - adult onset v0.40 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.74 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Leukodystrophy - paediatric v0.74 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.74 CYP7B1 Zornitza Stark Classified gene: CYP7B1 as Green List (high evidence)
Leukodystrophy - paediatric v0.74 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.73 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 24117163; 19439420; 19187859
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Review for gene: CYP7B1 was set to GREEN
Added comment: White matter lesions have been reported as a feature of the condition in >3 cases. Age of onset highly variable, generally in adolescence but onset in early childhood reported.
Sources: Expert list
Leukodystrophy - adult onset v0.40 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Leukodystrophy - adult onset v0.40 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.40 EPRS Zornitza Stark Marked gene: EPRS as ready
Leukodystrophy - adult onset v0.40 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.40 EPRS Zornitza Stark Publications for gene: EPRS were set to
Leukodystrophy - paediatric v0.72 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Leukodystrophy - paediatric v0.72 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.72 NPC1 Zornitza Stark Classified gene: NPC1 as Green List (high evidence)
Leukodystrophy - paediatric v0.72 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.71 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 26910362; 29406968
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/D, MIM# 257220
Review for gene: NPC1 was set to GREEN
Added comment: Age of onset/severity highly variable.
Sources: Expert list
Leukodystrophy - adult onset v0.39 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Leukodystrophy - adult onset v0.39 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.39 RPIA Zornitza Stark changed review comment from: Four unrelated individuals described to date.
Sources: Literature; to: Four unrelated individuals described to date, variable onset of leukodystrophy in childhood/adolescence, though other symptoms generally precede.
Sources: Literature
Leukodystrophy - adult onset v0.39 RPIA Zornitza Stark Marked gene: RPIA as ready
Leukodystrophy - adult onset v0.39 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.70 RPIA Zornitza Stark Marked gene: RPIA as ready
Leukodystrophy - paediatric v0.70 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.70 RPIA Zornitza Stark Classified gene: RPIA as Green List (high evidence)
Leukodystrophy - paediatric v0.70 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.69 RPIA Zornitza Stark gene: RPIA was added
gene: RPIA was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 31247379; 14988808; 31056085
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611
Review for gene: RPIA was set to GREEN
Added comment: Four unrelated individuals described to date, variable onset of leukodystrophy in childhood/adolescence, though other symptoms generally precede.
Sources: Expert list
Leukodystrophy - adult onset v0.39 RPIA Zornitza Stark Publications for gene: RPIA were set to
Leukodystrophy - paediatric v0.68 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Leukodystrophy - paediatric v0.68 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.68 SNORD118 Zornitza Stark Classified gene: SNORD118 as Green List (high evidence)
Leukodystrophy - paediatric v0.68 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.67 SNORD118 Zornitza Stark edited their review of gene: SNORD118: Changed rating: GREEN; Changed phenotypes: Leukoencephalopathy, brain calcifications, and cysts 614561
Leukodystrophy - paediatric v0.67 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts 614561
Added comment: Over 30 families reported, age at presentation ranged between infancy and 54 years.
Sources: Expert list
Leukodystrophy - adult onset v0.38 SNORD118 Zornitza Stark changed review comment from: Over 30 families reported.; to: Over 30 families reported, age at presentation ranged between infancy and 54 years.
Leukodystrophy - adult onset v0.38 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Leukodystrophy - adult onset v0.37 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Leukodystrophy - adult onset v0.37 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.37 SPG21 Zornitza Stark Marked gene: SPG21 as ready
Leukodystrophy - adult onset v0.37 SPG21 Zornitza Stark Gene: spg21 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.37 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Leukodystrophy - adult onset v0.37 ATP7B Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.37 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Leukodystrophy - adult onset v0.37 NPC2 Zornitza Stark Gene: npc2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.37 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Leukodystrophy - adult onset v0.37 RNF216 Zornitza Stark Gene: rnf216 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.37 SPAST Zornitza Stark Marked gene: SPAST as ready
Leukodystrophy - adult onset v0.37 SPAST Zornitza Stark Gene: spast has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.37 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Leukodystrophy - adult onset v0.37 SPG7 Zornitza Stark Gene: spg7 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.37 TWNK Zornitza Stark Marked gene: TWNK as ready
Leukodystrophy - adult onset v0.37 TWNK Zornitza Stark Gene: twnk has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.37 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Leukodystrophy - adult onset v0.37 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.37 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Leukodystrophy - adult onset v0.36 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Leukodystrophy - adult onset v0.36 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.36 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Leukodystrophy - adult onset v0.36 UNC13D Zornitza Stark Gene: unc13d has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.36 TYMP Zornitza Stark Marked gene: TYMP as ready
Leukodystrophy - adult onset v0.36 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.36 TYMP Zornitza Stark Classified gene: TYMP as Green List (high evidence)
Leukodystrophy - adult onset v0.36 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.35 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to 9924029; 10852545
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Review for gene: TYMP was set to GREEN
Added comment: Onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. Mitochondrial DNA abnormalities can include depletion, deletion, and point mutations.
Sources: Expert list
Leukodystrophy - adult onset v0.34 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Leukodystrophy - adult onset v0.34 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.34 LMNB1 Zornitza Stark Publications for gene: LMNB1 were set to
Leukodystrophy - adult onset v0.33 LMNB1 Zornitza Stark Tag SV/CNV tag was added to gene: LMNB1.
Leukodystrophy - adult onset v0.33 TREM2 Zornitza Stark edited their review of gene: TREM2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.33 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Leukodystrophy - adult onset v0.33 TREM2 Zornitza Stark Gene: trem2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.33 TREM2 Zornitza Stark Publications for gene: TREM2 were set to
Leukodystrophy - adult onset v0.32 TREM2 Zornitza Stark reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12080485, 15883308; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.66 DCAF17 Zornitza Stark Marked gene: DCAF17 as ready
Leukodystrophy - paediatric v0.66 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.66 DCAF17 Zornitza Stark Classified gene: DCAF17 as Green List (high evidence)
Leukodystrophy - paediatric v0.66 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.65 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 19026396; 20507343
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080
Review for gene: DCAF17 was set to GREEN
Added comment: White matter changes are part of the phenotype.
Sources: Expert list
Leukodystrophy - paediatric v0.64 PTEN Zornitza Stark Marked gene: PTEN as ready
Leukodystrophy - paediatric v0.64 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.64 PTEN Zornitza Stark Classified gene: PTEN as Green List (high evidence)
Leukodystrophy - paediatric v0.64 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.63 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTEN were set to 29720545; 29152901; 30664625
Phenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350
Review for gene: PTEN was set to GREEN
Added comment: White matter changes described in many individuals.
Sources: Expert list
Leukodystrophy - adult onset v0.32 PTEN Zornitza Stark Marked gene: PTEN as ready
Leukodystrophy - adult onset v0.32 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.32 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350
Leukodystrophy - adult onset v0.31 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 29152901; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - adult onset v0.31 PAH Zornitza Stark Marked gene: PAH as ready
Leukodystrophy - adult onset v0.31 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.31 PAH Zornitza Stark Publications for gene: PAH were set to
Leukodystrophy - adult onset v0.30 PAH Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636599, 32141105; Phenotypes: Phenylketonuria, MIM# 261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2706 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Mendeliome v0.2706 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Mendeliome v0.2706 C21orf59 Zornitza Stark Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500
Mendeliome v0.2705 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Mendeliome v0.2704 C21orf59 Zornitza Stark Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2703 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Mendeliome v0.2703 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 v0.12 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
Ciliary Dyskinesia v0.35 C21orf59 Zornitza Stark changed review comment from: At least three unrelated families reported.; to: At least three unrelated families reported. HGNC approved name CFAP298.
Ciliary Dyskinesia v0.35 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Ciliary Dyskinesia v0.35 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.35 C21orf59 Zornitza Stark Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500
Ciliary Dyskinesia v0.34 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Ciliary Dyskinesia v0.33 C21orf59 Zornitza Stark Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.32 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
Ciliary Dyskinesia v0.32 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Mendeliome v0.2703 WISP3 Zornitza Stark Marked gene: WISP3 as ready
Mendeliome v0.2703 WISP3 Zornitza Stark Gene: wisp3 has been classified as Green List (High Evidence).
Mendeliome v0.2703 WISP3 Zornitza Stark Phenotypes for gene: WISP3 were changed from to Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230
Mendeliome v0.2702 WISP3 Zornitza Stark Publications for gene: WISP3 were set to
Mendeliome v0.2701 WISP3 Zornitza Stark Mode of inheritance for gene: WISP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2700 WISP3 Zornitza Stark Tag new gene name tag was added to gene: WISP3.
Mendeliome v0.2700 WISP3 Zornitza Stark reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10471507; Phenotypes: Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230, Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.6 WISP3 Zornitza Stark Marked gene: WISP3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.6 WISP3 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name CCN6
Mackenzie's Mission_Reproductive Carrier Screening v0.6 WISP3 Zornitza Stark Gene: wisp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 WISP3 Zornitza Stark Tag new gene name tag was added to gene: WISP3.
Skeletal dysplasia v0.19 WISP3 Zornitza Stark Marked gene: WISP3 as ready
Skeletal dysplasia v0.19 WISP3 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name CCN6
Skeletal dysplasia v0.19 WISP3 Zornitza Stark Gene: wisp3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 WISP3 Zornitza Stark Tag new gene name tag was added to gene: WISP3.
Mitochondrial disease v0.445 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Mitochondrial disease v0.445 ATP5E Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name ATP5F1E.
Mitochondrial disease v0.445 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2700 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Mendeliome v0.2700 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2700 ATP5E Zornitza Stark Phenotypes for gene: ATP5E were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Mendeliome v0.2699 ATP5E Zornitza Stark Publications for gene: ATP5E were set to
Mendeliome v0.2698 ATP5E Zornitza Stark Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2697 ATP5E Zornitza Stark Classified gene: ATP5E as Amber List (moderate evidence)
Mendeliome v0.2697 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2696 ATP5E Zornitza Stark Tag new gene name tag was added to gene: ATP5E.
Mendeliome v0.2696 ATP5E Zornitza Stark reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: 20566710, 27626380, 20026007; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.445 ATP5E Zornitza Stark Tag new gene name tag was added to gene: ATP5E.
Mendeliome v0.2696 ATP5D Zornitza Stark Marked gene: ATP5D as ready
Mendeliome v0.2696 ATP5D Zornitza Stark Gene: atp5d has been classified as Green List (High Evidence).
Mendeliome v0.2696 ATP5D Zornitza Stark Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
Mendeliome v0.2695 ATP5D Zornitza Stark Publications for gene: ATP5D were set to
Mendeliome v0.2694 ATP5D Zornitza Stark Mode of inheritance for gene: ATP5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2693 ATP5D Zornitza Stark Tag new gene name tag was added to gene: ATP5D.
Mendeliome v0.2693 ATP5D Zornitza Stark reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.445 ATP5D Zornitza Stark Marked gene: ATP5D as ready
Mitochondrial disease v0.445 ATP5D Zornitza Stark Gene: atp5d has been classified as Green List (High Evidence).
Mitochondrial disease v0.445 ATP5D Zornitza Stark Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
Mitochondrial disease v0.444 ATP5D Zornitza Stark Publications for gene: ATP5D were set to
Mitochondrial disease v0.443 ATP5D Zornitza Stark Mode of inheritance for gene: ATP5D was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.443 ATP5D Zornitza Stark Mode of inheritance for gene: ATP5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.442 ATP5D Zornitza Stark Tag new gene name tag was added to gene: ATP5D.
Mitochondrial disease v0.442 ATP5D Zornitza Stark reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Tag new gene name tag was added to gene: ATP5A1.
Mendeliome v0.2693 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Mendeliome v0.2693 ATP5A1 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A
Mendeliome v0.2693 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.690 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Genetic Epilepsy v0.690 ATP5A1 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A
Genetic Epilepsy v0.690 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.690 ATP5A1 Zornitza Stark Tag new gene name tag was added to gene: ATP5A1.
Mendeliome v0.2693 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Mendeliome v0.2692 ATP5A1 Zornitza Stark Tag new gene name tag was added to gene: ATP5A1.
Mendeliome v0.2692 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to
Mendeliome v0.2691 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2690 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Amber List (moderate evidence)
Mendeliome v0.2690 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2689 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.14 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Blepharophimosis v0.14 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Blepharophimosis v0.14 COLEC10 Zornitza Stark Classified gene: COLEC10 as Green List (high evidence)
Blepharophimosis v0.14 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Blepharophimosis v0.13 COLEC10 Zornitza Stark gene: COLEC10 was added
gene: COLEC10 was added to Blepharophimosis. Sources: Expert Review
Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC10 were set to 3MC syndrome 3, MIM# 248340
Review for gene: COLEC10 was set to GREEN
Added comment: Sources: Expert Review
Blepharophimosis v0.12 COLEC11 Zornitza Stark Marked gene: COLEC11 as ready
Blepharophimosis v0.12 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Blepharophimosis v0.12 COLEC11 Zornitza Stark Classified gene: COLEC11 as Green List (high evidence)
Blepharophimosis v0.12 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Blepharophimosis v0.11 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Blepharophimosis. Sources: Expert Review
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, MIM# 265050
Review for gene: COLEC11 was set to GREEN
Added comment: Sources: Expert Review
Blepharophimosis v0.10 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Blepharophimosis v0.10 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Blepharophimosis v0.10 ERCC1 Zornitza Stark Classified gene: ERCC1 as Green List (high evidence)
Blepharophimosis v0.10 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Blepharophimosis v0.9 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Blepharophimosis. Sources: Expert Review
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Review for gene: ERCC1 was set to GREEN
Added comment: Sources: Expert Review
Blepharophimosis v0.8 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Blepharophimosis v0.8 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Blepharophimosis v0.8 ERCC5 Zornitza Stark Classified gene: ERCC5 as Green List (high evidence)
Blepharophimosis v0.8 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Blepharophimosis v0.7 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Blepharophimosis. Sources: Expert Review
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3,MIM# 616570
Review for gene: ERCC5 was set to GREEN
Added comment: Sources: Expert Review
Blepharophimosis v0.6 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Blepharophimosis v0.6 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Red List (Low Evidence).
Blepharophimosis v0.6 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Blepharophimosis. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 11443545
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM# 610756
Review for gene: ERCC2 was set to RED
Added comment: ERCC2 is associated with trichothiodystrophy and xeroderma pigmentosum. Only one family reported with COFS phenotype in 2001.
Sources: Expert list
Blepharophimosis v0.4 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Blepharophimosis v0.4 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Blepharophimosis v0.4 ERCC6 Zornitza Stark Classified gene: ERCC6 as Green List (high evidence)
Blepharophimosis v0.4 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Blepharophimosis v0.3 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Blepharophimosis. Sources: Expert Review
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cerebrooculofacioskeletal syndrome 1, MIM# 214150
Review for gene: ERCC6 was set to GREEN
Added comment: Sources: Expert Review
Mendeliome v0.2689 GLDC Zornitza Stark Marked gene: GLDC as ready
Mendeliome v0.2689 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Mendeliome v0.2689 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from to Glycine encephalopathy (MIM#605899)
Mendeliome v0.2688 GLDC Zornitza Stark Publications for gene: GLDC were set to
Mendeliome v0.2687 GLDC Zornitza Stark Mode of inheritance for gene: GLDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2686 GLDC Crystle Lee reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27362913; Phenotypes: Glycine encephalopathy (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.30 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Leukodystrophy - adult onset v0.30 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.30 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Leukodystrophy - adult onset v0.29 MTHFR Zornitza Stark reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29391032; Phenotypes: Homocystinuria due to MTHFR deficiency, MIM# 236250; Mode of inheritance: None
Leukodystrophy - adult onset v0.29 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Leukodystrophy - adult onset v0.29 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.29 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.29 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Leukodystrophy - adult onset v0.29 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.29 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800; Reversible posterior leukoencephalopathy
Leukodystrophy - adult onset v0.28 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Cholestasis v0.18 PPM1F Zornitza Stark edited their review of gene: PPM1F: Changed phenotypes: sclerosing cholangitis, short stature, hypothyroidism, abnormal tongue pigmentation
Haematuria_Alport v0.35 COL4A4 Zornitza Stark Marked gene: COL4A4 as ready
Haematuria_Alport v0.35 COL4A4 Zornitza Stark Gene: col4a4 has been classified as Green List (High Evidence).
Haematuria_Alport v0.35 COL4A4 Zornitza Stark Phenotypes for gene: COL4A4 were changed from to Alport syndrome 2, autosomal recessive, 203780; Thin basement membrane nephropathy (TBMN), AD; Focal segmental glomerulosclerosis (FSGS), AD
Haematuria_Alport v0.34 COL4A4 Zornitza Stark Publications for gene: COL4A4 were set to
Haematuria_Alport v0.33 COL4A4 Zornitza Stark Mode of inheritance for gene: COL4A4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2612 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Intellectual disability syndromic and non-syndromic v0.2612 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2612 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1, MIM 135900
Intellectual disability syndromic and non-syndromic v0.2611 ARID1B Zornitza Stark Publications for gene: ARID1B were set to
Intellectual disability syndromic and non-syndromic v0.2610 ARID1B Zornitza Stark Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2609 ARID1B Teresa Zhao reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25674384, 30349098, 26506440; Phenotypes: Coffin-Siris syndrome 1, MIM 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2686 CD4 Zornitza Stark reviewed gene: CD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 31781092; Phenotypes: Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.54 CD4 Zornitza Stark Marked gene: CD4 as ready
Susceptibility to Viral Infections v0.54 CD4 Zornitza Stark Gene: cd4 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.54 CD4 Zornitza Stark Classified gene: CD4 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.54 CD4 Zornitza Stark Gene: cd4 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.53 CD4 Zornitza Stark gene: CD4 was added
gene: CD4 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: CD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD4 were set to 31781092
Phenotypes for gene: CD4 were set to Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Review for gene: CD4 was set to AMBER
Added comment: Single individual reported, functional data, emerging gene.
Sources: Literature
Haematuria_Alport v0.32 COL4A4 Ee Ming Wong reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 17942953, 24052634, 12631110, 26346198, 30450445; Phenotypes: Alport syndrome 2, autosomal recessive, 203780, Thin basement membrane nephropathy (TBMN), AD, Focal segmental glomerulosclerosis (FSGS), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2686 TNK2 Zornitza Stark Mode of inheritance for gene: TNK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.690 TNK2 Zornitza Stark Classified gene: TNK2 as Amber List (moderate evidence)
Genetic Epilepsy v0.690 TNK2 Zornitza Stark Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.689 TNK2 Zornitza Stark changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, however report in Hitomi (2013) is questionable due to this variant being present in 6 homozygotes in gnomAD,
Genetic Epilepsy v0.689 TNK2 Zornitza Stark edited their review of gene: TNK2: Changed rating: AMBER
Mendeliome v0.2685 TNK2 Zornitza Stark Marked gene: TNK2 as ready
Mendeliome v0.2685 TNK2 Zornitza Stark Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2685 TNK2 Zornitza Stark Phenotypes for gene: TNK2 were changed from to late onset infantile epilepsy; Mayer-Rokitansky-Küster-Hauser syndrome
Mendeliome v0.2684 TNK2 Zornitza Stark Publications for gene: TNK2 were set to
Mendeliome v0.2683 TNK2 Zornitza Stark Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2682 TNK2 Zornitza Stark Classified gene: TNK2 as Amber List (moderate evidence)
Mendeliome v0.2682 TNK2 Zornitza Stark Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2681 MAN2B2 Zornitza Stark Marked gene: MAN2B2 as ready
Mendeliome v0.2681 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence).
Mendeliome v0.2681 MAN2B2 Zornitza Stark gene: MAN2B2 was added
gene: MAN2B2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 31775018
Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation; immunodeficiency
Review for gene: MAN2B2 was set to RED
Added comment: Single individual reported.
Sources: Literature
Congenital Disorders of Glycosylation v0.47 MAN2B2 Zornitza Stark Marked gene: MAN2B2 as ready
Congenital Disorders of Glycosylation v0.47 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence).
Mendeliome v0.2680 TNK2 Elena Savva reviewed gene: TNK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 27977884, 23686771, 31517310; Phenotypes: late onset infantile epilepsy, Mayer-Rokitansky-Küster-Hauser syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.47 MAN2B2 Zornitza Stark gene: MAN2B2 was added
gene: MAN2B2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 31775018
Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation; immunodeficiency
Review for gene: MAN2B2 was set to RED
Added comment: Single individual reported.
Sources: Literature
Mendeliome v0.2680 RIPK1 Zornitza Stark Marked gene: RIPK1 as ready
Mendeliome v0.2680 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Mendeliome v0.2680 RIPK1 Zornitza Stark Phenotypes for gene: RIPK1 were changed from to Immunodeficiency 57, MIM#618108
Mendeliome v0.2679 RIPK1 Zornitza Stark Publications for gene: RIPK1 were set to
Mendeliome v0.2678 RIPK1 Zornitza Stark Mode of inheritance for gene: RIPK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2677 RIPK1 Zornitza Stark reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316, 30591564, 31213653, 31827280; Phenotypes: Immunodeficiency 57, MIM#618108; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.58 RIPK1 Zornitza Stark changed review comment from: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280; to: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280
Disorders of immune dysregulation v0.58 RIPK1 Zornitza Stark Publications for gene: RIPK1 were set to 30026316
Disorders of immune dysregulation v0.57 RIPK1 Zornitza Stark Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.56 RIPK1 Zornitza Stark edited their review of gene: RIPK1: Added comment: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280; Changed publications: 30026316, 30591564, 31213653, 31827280; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inflammatory bowel disease v0.26 RIPK1 Zornitza Stark Marked gene: RIPK1 as ready
Inflammatory bowel disease v0.26 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.26 RIPK1 Zornitza Stark Classified gene: RIPK1 as Green List (high evidence)
Inflammatory bowel disease v0.26 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.25 RIPK1 Zornitza Stark gene: RIPK1 was added
gene: RIPK1 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK1 were set to 30026316; 30591564; 31213653
Phenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108
Review for gene: RIPK1 was set to GREEN
Added comment: Ten families reported, inflammatory bowel disease/enteropathy is a common feature of this immune dysregulation syndrome.
Sources: Literature
Disorders of immune dysregulation v0.56 RIPK1 Zornitza Stark edited their review of gene: RIPK1: Added comment: Seven further families reported, inflammatory bowel disease/enteropathy common features.; Changed publications: 30026316, 30591564, 31213653
Mendeliome v0.2677 PIK3CG Zornitza Stark Marked gene: PIK3CG as ready
Mendeliome v0.2677 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Green List (High Evidence).
Mendeliome v0.2677 PIK3CG Zornitza Stark Classified gene: PIK3CG as Green List (high evidence)
Mendeliome v0.2677 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Green List (High Evidence).
Mendeliome v0.2676 PIK3CG Zornitza Stark gene: PIK3CG was added
gene: PIK3CG was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3CG were set to 32001535; 31554793
Phenotypes for gene: PIK3CG were set to Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
Review for gene: PIK3CG was set to GREEN
Added comment: Two individuals with complex immunological phenotypes reported and a mouse model.
Sources: Literature
Mendeliome v0.2675 RC3H1 Zornitza Stark Marked gene: RC3H1 as ready
Mendeliome v0.2675 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.80 PIK3CG Zornitza Stark Marked gene: PIK3CG as ready
Autoinflammatory Disorders v0.80 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.80 PIK3CG Zornitza Stark Classified gene: PIK3CG as Green List (high evidence)
Autoinflammatory Disorders v0.80 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.79 PIK3CG Zornitza Stark gene: PIK3CG was added
gene: PIK3CG was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3CG were set to 32001535; 31554793
Phenotypes for gene: PIK3CG were set to Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
Review for gene: PIK3CG was set to GREEN
Added comment: Two individuals with complex immunological phenotypes reported and a mouse model.
Sources: Literature
Mendeliome v0.2675 RC3H1 Zornitza Stark Classified gene: RC3H1 as Amber List (moderate evidence)
Mendeliome v0.2675 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2675 RC3H1 Zornitza Stark Classified gene: RC3H1 as Amber List (moderate evidence)
Mendeliome v0.2675 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.78 RC3H1 Zornitza Stark Classified gene: RC3H1 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.78 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2674 RC3H1 Zornitza Stark changed review comment from: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data.
Sources: Literature; to: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data including mouse model.
Sources: Literature
Mendeliome v0.2674 RC3H1 Zornitza Stark edited their review of gene: RC3H1: Changed rating: AMBER; Changed publications: 31636267, 15917799
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark changed review comment from: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data.
Sources: Literature; to: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data including mouse model.
Sources: Literature
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark edited their review of gene: RC3H1: Changed rating: AMBER; Changed publications: 31636267, 15917799
Mendeliome v0.2674 RC3H1 Zornitza Stark gene: RC3H1 was added
gene: RC3H1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RC3H1 were set to 31636267
Phenotypes for gene: RC3H1 were set to Relapsing HLH
Review for gene: RC3H1 was set to RED
Added comment: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data.
Sources: Literature
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark Marked gene: RC3H1 as ready
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark gene: RC3H1 was added
gene: RC3H1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RC3H1 were set to 31636267
Phenotypes for gene: RC3H1 were set to Relapsing HLH
Review for gene: RC3H1 was set to RED
Added comment: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data.
Sources: Literature
Stroke v0.12 CCM2 Bryony Thompson Marked gene: CCM2 as ready
Stroke v0.12 CCM2 Bryony Thompson Gene: ccm2 has been classified as Green List (High Evidence).
Stroke v0.12 CCM2 Bryony Thompson Classified gene: CCM2 as Green List (high evidence)
Stroke v0.12 CCM2 Bryony Thompson Gene: ccm2 has been classified as Green List (High Evidence).
Stroke v0.11 CCM2 Bryony Thompson gene: CCM2 was added
gene: CCM2 was added to Stroke. Sources: Literature
Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCM2 were set to 14624391; 18779516; 30356112
Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations-2 MIM#603284
Review for gene: CCM2 was set to GREEN
Added comment: Cases reported with intracerebral bleeding and cavernoma stroke subtypes.
Sources: Literature
Stroke v0.10 ADAMTS13 Bryony Thompson Marked gene: ADAMTS13 as ready
Stroke v0.10 ADAMTS13 Bryony Thompson Gene: adamts13 has been classified as Green List (High Evidence).
Stroke v0.10 ADAMTS13 Bryony Thompson Classified gene: ADAMTS13 as Green List (high evidence)
Stroke v0.10 ADAMTS13 Bryony Thompson Gene: adamts13 has been classified as Green List (High Evidence).
Stroke v0.9 ADAMTS13 Bryony Thompson gene: ADAMTS13 was added
gene: ADAMTS13 was added to Stroke. Sources: Literature
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS13 were set to 32103696; 31585956; 30930238; 28591212
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary MIM#274150
Review for gene: ADAMTS13 was set to GREEN
Added comment: Strokes reported in at least 7 cases with the condition.
Sources: Literature
Stroke v0.8 ACTA2 Bryony Thompson Classified gene: ACTA2 as Green List (high evidence)
Stroke v0.8 ACTA2 Bryony Thompson Gene: acta2 has been classified as Green List (High Evidence).
Stroke v0.7 ACTA2 Bryony Thompson gene: ACTA2 was added
gene: ACTA2 was added to Stroke. Sources: Literature
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTA2 were set to 20734336; 19409525; 30356112
Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome MIM#613834
Review for gene: ACTA2 was set to GREEN
Added comment: Condition reported with large artery atherosclerosis/non-atherosclerosis, small vessel disease, and cardio embolism due to morphologic defect stroke subtypes.
Sources: Literature
Stroke v0.6 ABCA1 Bryony Thompson Classified gene: ABCA1 as Green List (high evidence)
Stroke v0.6 ABCA1 Bryony Thompson Gene: abca1 has been classified as Green List (High Evidence).
Stroke v0.5 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA1 were set to 30356112; 22913675; 30278532; 31487778
Phenotypes for gene: ABCA1 were set to Tangier disease MIM#205400
Review for gene: ABCA1 was set to GREEN
Added comment: Cases have been reported with large artery atherosclerosis, cardio embolism due to cardiomyopathy, intracerebral bleeding, and bleeding tendency stroke subtypes. Also a hamster model with ischemic stroke.
Sources: Literature
Mendeliome v0.2673 IFNG Zornitza Stark Marked gene: IFNG as ready
Mendeliome v0.2673 IFNG Zornitza Stark Gene: ifng has been classified as Red List (Low Evidence).
Mendeliome v0.2673 IFNG Zornitza Stark Phenotypes for gene: IFNG were changed from to Mendelian susceptibility to mycobacterial disease
Mendeliome v0.2672 IFNG Zornitza Stark Publications for gene: IFNG were set to
Mendeliome v0.2671 IFNG Zornitza Stark Mode of inheritance for gene: IFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2670 IFNG Zornitza Stark Classified gene: IFNG as Red List (low evidence)
Mendeliome v0.2670 IFNG Zornitza Stark Gene: ifng has been classified as Red List (Low Evidence).
Mendeliome v0.2669 IFNG Zornitza Stark reviewed gene: IFNG: Rating: RED; Mode of pathogenicity: None; Publications: 32163377; Phenotypes: Mendelian susceptibility to mycobacterial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2669 ITPKB Zornitza Stark gene: ITPKB was added
gene: ITPKB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPKB were set to 31987846
Phenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Review for gene: ITPKB was set to RED
Added comment: Single individual with homozygous bi-allelic LoF variant reported.
Sources: Literature
Severe Combined Immunodeficiency (absent T present B cells) v0.19 ITPKB Zornitza Stark Marked gene: ITPKB as ready
Severe Combined Immunodeficiency (absent T present B cells) v0.19 ITPKB Zornitza Stark Gene: itpkb has been classified as Red List (Low Evidence).
Severe Combined Immunodeficiency (absent T present B cells) v0.19 ITPKB Zornitza Stark Publications for gene: ITPKB were set to
Severe Combined Immunodeficiency (absent T present B cells) v0.18 ITPKB Zornitza Stark edited their review of gene: ITPKB: Changed publications: 31987846
Severe Combined Immunodeficiency (absent T present B cells) v0.18 ITPKB Zornitza Stark gene: ITPKB was added
gene: ITPKB was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Review for gene: ITPKB was set to RED
Added comment: Single individual with homozygous bi-allelic LoF variant reported.
Sources: Literature
Mendeliome v0.2668 PSMB10 Zornitza Stark Marked gene: PSMB10 as ready
Mendeliome v0.2668 PSMB10 Zornitza Stark Gene: psmb10 has been classified as Red List (Low Evidence).
Mendeliome v0.2668 PSMB10 Zornitza Stark gene: PSMB10 was added
gene: PSMB10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057
Phenotypes for gene: PSMB10 were set to Autoinflammatory syndrome
Review for gene: PSMB10 was set to RED
Added comment: PSMB10 is part of the immunoproteasome, and other components cause auto inflammatory disorders. Single individual with homozygous missense variant reported.
Sources: Literature
Autoinflammatory Disorders v0.76 PSMB10 Zornitza Stark Marked gene: PSMB10 as ready
Autoinflammatory Disorders v0.76 PSMB10 Zornitza Stark Gene: psmb10 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.76 PSMB10 Zornitza Stark gene: PSMB10 was added
gene: PSMB10 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057
Phenotypes for gene: PSMB10 were set to Autoinflammatory syndrome
Review for gene: PSMB10 was set to RED
Added comment: PSMB10 is part of the immunoproteasome, and other components cause auto inflammatory disorders. Single individual with homozygous missense variant reported.
Sources: Literature
Autoinflammatory Disorders v0.75 CDC42 Zornitza Stark Publications for gene: CDC42 were set to 31601675; 32303876
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark edited their review of gene: CDC42: Changed publications: 31601675, 32303876, 32231661
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark changed review comment from: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM# 616737
Sources: Literature; to: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Yet another individual in PMID 32231661 with different de novo variant, p.Cys81Tyr who in addition developed haematological malignancy and also had syndromic features, including ID. Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM# 616737
Sources: Literature
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark Marked gene: CDC42 as ready
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark Classified gene: CDC42 as Green List (high evidence)
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.73 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 31601675; 32303876
Phenotypes for gene: CDC42 were set to Neonatal-onset cytopaenia with dyshaematopoiesis; autoinflammation; rash; HLH
Review for gene: CDC42 was set to GREEN
Added comment: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM# 616737
Sources: Literature
Autoinflammatory Disorders v0.72 STAT2 Zornitza Stark Marked gene: STAT2 as ready
Autoinflammatory Disorders v0.72 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.72 STAT2 Zornitza Stark Phenotypes for gene: STAT2 were changed from to Autoinflammatory disorder
Autoinflammatory Disorders v0.71 STAT2 Zornitza Stark Classified gene: STAT2 as Green List (high evidence)
Autoinflammatory Disorders v0.71 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.70 STAT2 Zornitza Stark gene: STAT2 was added
gene: STAT2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAT2 were set to 31836668; 32092142
Review for gene: STAT2 was set to GREEN
Added comment: Three individuals from two unrelated families reported with bi-allelic GoF variants and severe auto inflammatory disease. Functional data. Note gene is already associated with other immune phenotypes.
Sources: Literature
Mendeliome v0.2667 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Mendeliome v0.2667 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Mendeliome v0.2667 ABHD12 Zornitza Stark Phenotypes for gene: ABHD12 were changed from to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Mendeliome v0.2666 ABHD12 Zornitza Stark Mode of inheritance for gene: ABHD12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2665 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Mendeliome v0.2665 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Mendeliome v0.2665 AAAS Zornitza Stark Marked gene: AAAS as ready
Mendeliome v0.2665 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Mendeliome v0.2665 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Mendeliome v0.2664 AAAS Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.442 DNM2 Kristin Rigbye commented on gene: DNM2
Susceptibility to Viral Infections v0.52 POLR3C Zornitza Stark Marked gene: POLR3C as ready
Susceptibility to Viral Infections v0.52 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.52 IL18BP Zornitza Stark Marked gene: IL18BP as ready
Susceptibility to Viral Infections v0.52 IL18BP Zornitza Stark Gene: il18bp has been classified as Red List (Low Evidence).
Mendeliome v0.2663 NOS2 Zornitza Stark Marked gene: NOS2 as ready
Mendeliome v0.2663 NOS2 Zornitza Stark Gene: nos2 has been classified as Red List (Low Evidence).
Mendeliome v0.2663 NOS2 Zornitza Stark Phenotypes for gene: NOS2 were changed from to {Malaria, resistance to} 611162; Disseminated CMV disease
Stroke v0.4 NOS3 Bryony Thompson Classified gene: NOS3 as Red List (low evidence)
Stroke v0.4 NOS3 Bryony Thompson Gene: nos3 has been classified as Red List (Low Evidence).
Stroke v0.3 NOS3 Bryony Thompson reviewed gene: NOS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Ischemic stroke, susceptibility to} MIM#601367; Mode of inheritance: Unknown
Mendeliome v0.2662 NOS2 Zornitza Stark Publications for gene: NOS2 were set to
Mendeliome v0.2661 NOS2 Zornitza Stark Classified gene: NOS2 as Red List (low evidence)
Mendeliome v0.2661 NOS2 Zornitza Stark Gene: nos2 has been classified as Red List (Low Evidence).
Stroke v0.3 MMACHC Bryony Thompson Classified gene: MMACHC as Green List (high evidence)
Stroke v0.3 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Mendeliome v0.2660 NOS2 Zornitza Stark edited their review of gene: NOS2: Changed rating: RED
Stroke v0.2 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Stroke. Sources: Literature
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 12552044; 11742888; 30356112
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: Large artery atherosclerosis, large artery non-atherosclerosis with dissections, coagulation pathology venous thrombosis, and coagulation pathology arterial thrombosis are stroke subtypes reported in this condition.
Sources: Literature
Mendeliome v0.2660 NOS2 Zornitza Stark reviewed gene: NOS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12433515, 31995689; Phenotypes: {Malaria, resistance to} 611162, Disseminated CMV disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.52 NOS2 Zornitza Stark Marked gene: NOS2 as ready
Susceptibility to Viral Infections v0.52 NOS2 Zornitza Stark Gene: nos2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.52 NOS2 Zornitza Stark gene: NOS2 was added
gene: NOS2 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: NOS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOS2 were set to 31995689
Phenotypes for gene: NOS2 were set to Disseminated CMV disease
Review for gene: NOS2 was set to RED
Added comment: Single individual reported with progressive, fatal CMV disease and homozygous LoF variant in NOS2.
Sources: Expert list
Susceptibility to Viral Infections v0.51 CD70 Zornitza Stark Marked gene: CD70 as ready
Susceptibility to Viral Infections v0.51 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.51 CD70 Zornitza Stark Classified gene: CD70 as Green List (high evidence)
Susceptibility to Viral Infections v0.51 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.50 CD70 Zornitza Stark gene: CD70 was added
gene: CD70 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD70 were set to 28011864; 28011863,
Phenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261; Host response to EBV
Review for gene: CD70 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.49 CD27 Zornitza Stark Marked gene: CD27 as ready
Susceptibility to Viral Infections v0.49 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.49 CD27 Zornitza Stark Classified gene: CD27 as Green List (high evidence)
Susceptibility to Viral Infections v0.49 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.48 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD27 were set to 22801960; 22197273
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, MIM# 615122; Host response to EBV
Review for gene: CD27 was set to GREEN
Added comment: At least four families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.47 ITK Zornitza Stark Marked gene: ITK as ready
Susceptibility to Viral Infections v0.47 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.47 ITK Zornitza Stark Classified gene: ITK as Green List (high evidence)
Susceptibility to Viral Infections v0.47 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.46 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITK were set to 19425169; 22289921; 21109689
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011; EBV- associated B cell lymphoproliferation, lymphoma
Review for gene: ITK was set to GREEN
Added comment: At least three families reported, abnormal host response to EBV.
Sources: Expert list
Susceptibility to Viral Infections v0.45 XIAP Zornitza Stark Marked gene: XIAP as ready
Susceptibility to Viral Infections v0.45 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.45 XIAP Zornitza Stark Classified gene: XIAP as Green List (high evidence)
Susceptibility to Viral Infections v0.45 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.44 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: XIAP were set to 17080092
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2 300635; Host response to EBV
Review for gene: XIAP was set to GREEN
Added comment: Sources: Expert list
Susceptibility to Viral Infections v0.43 SH2D1A Zornitza Stark Marked gene: SH2D1A as ready
Susceptibility to Viral Infections v0.43 SH2D1A Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.43 SH2D1A Zornitza Stark Classified gene: SH2D1A as Green List (high evidence)
Susceptibility to Viral Infections v0.43 SH2D1A Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.42 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH2D1A were set to 9771704
Phenotypes for gene: SH2D1A were set to Host response to EBV infection; Lymphoproliferative syndrome, X-linked, 1 308240
Review for gene: SH2D1A was set to GREEN
Added comment: Sources: Expert list
Susceptibility to Viral Infections v0.41 NLRP1 Zornitza Stark Marked gene: NLRP1 as ready
Susceptibility to Viral Infections v0.41 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.41 NLRP1 Zornitza Stark gene: NLRP1 was added
gene: NLRP1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: NLRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLRP1 were set to 31484767
Phenotypes for gene: NLRP1 were set to Recurrent respiratory papillomatosis
Review for gene: NLRP1 was set to RED
Added comment: Single family reported with homozygous GoF variants in siblings with recurrent respiratory papillomatosis. Note gene is associated with multiple, mono- and bi-allelic immunological phenotypes.
Sources: Expert list
Susceptibility to Viral Infections v0.40 CIB1 Zornitza Stark Marked gene: CIB1 as ready
Susceptibility to Viral Infections v0.40 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.40 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Susceptibility to Viral Infections v0.40 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.39 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, MIM# 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: 24 individuals from six families reported.
Sources: Expert list
Mendeliome v0.2660 SNORA31 Zornitza Stark Marked gene: SNORA31 as ready
Mendeliome v0.2660 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Mendeliome v0.2660 SNORA31 Zornitza Stark Classified gene: SNORA31 as Green List (high evidence)
Mendeliome v0.2660 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Mendeliome v0.2659 SNORA31 Zornitza Stark gene: SNORA31 was added
gene: SNORA31 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNORA31 were set to 31806906
Phenotypes for gene: SNORA31 were set to Susceptibility to HSV1 encephalitis
Review for gene: SNORA31 was set to GREEN
Added comment: Five unrelated individuals reported with rare missense variants in this gene, functional data to support susceptibility to herpes simplex encephalitis.
Sources: Expert list
Susceptibility to Viral Infections v0.38 SNORA31 Zornitza Stark Marked gene: SNORA31 as ready
Susceptibility to Viral Infections v0.38 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.38 SNORA31 Zornitza Stark Phenotypes for gene: SNORA31 were changed from Susceptibility to herpes simplex encephalitis to Susceptibility to HSV1 encephalitis
Susceptibility to Viral Infections v0.37 SNORA31 Zornitza Stark Classified gene: SNORA31 as Green List (high evidence)
Susceptibility to Viral Infections v0.37 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.36 SNORA31 Zornitza Stark gene: SNORA31 was added
gene: SNORA31 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNORA31 were set to 31806906
Phenotypes for gene: SNORA31 were set to Susceptibility to herpes simplex encephalitis
Review for gene: SNORA31 was set to GREEN
Added comment: Five unrelated individuals reported with rare missense variants in this gene, functional data to support susceptibility to herpes simplex encephalitis.
Sources: Expert list
Macular Dystrophy/Stargardt Disease v0.10 PRDM13 Bryony Thompson Classified gene: PRDM13 as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.10 PRDM13 Bryony Thompson Added comment: Comment on list classification: Cause of condition cannot be detected by WES
Macular Dystrophy/Stargardt Disease v0.10 PRDM13 Bryony Thompson Gene: prdm13 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.9 PRDM13 Bryony Thompson edited their review of gene: PRDM13: Changed rating: GREEN
Macular Dystrophy/Stargardt Disease v0.9 PRDM13 Bryony Thompson Deleted their comment
Cerebellar and Pontocerebellar Hypoplasia v0.139 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Marked gene: FKRP as ready
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Classified gene: FKRP as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Classified gene: POMT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Classified gene: ROBO3 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Marked gene: FKTN as ready
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Added comment: Comment when marking as ready: Agree, structural brain abnormalities are a feature of more severe FKTN-associated disease, though PCH/cerebellar hypoplasia not prominent (more unusual abnormalities like cerebellar polymicrogyria described).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome
Cerebellar and Pontocerebellar Hypoplasia v0.133 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.133 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Classified gene: GMPPB as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Classified gene: POMT1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Marked gene: ISPD as ready
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Classified gene: ISPD as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822
Cerebellar and Pontocerebellar Hypoplasia v0.128 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.127 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Classified gene: POMGNT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677
Cerebellar and Pontocerebellar Hypoplasia v0.123 LARGE1 Zornitza Stark Classified gene: LARGE1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.123 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.122 LARGE1 Zornitza Stark Tag SV/CNV tag was added to gene: LARGE1.
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Pierre Robin Sequence v0.5 TCOF1 Zornitza Stark Publications for gene: TCOF1 were set to
Pierre Robin Sequence v0.4 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.3 TCOF1 Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2658 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Mendeliome v0.2658 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Mendeliome v0.2658 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Mendeliome v0.2657 TCOF1 Zornitza Stark Publications for gene: TCOF1 were set to
Mendeliome v0.2656 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2655 TCOF1 Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.6 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Mandibulofacial Acrofacial dysostosis v0.6 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.6 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Mandibulofacial Acrofacial dysostosis v0.5 TCOF1 Zornitza Stark Publications for gene: TCOF1 were set to
Mandibulofacial Acrofacial dysostosis v0.4 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Intellectual disability syndromic and non-syndromic v0.2608 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Intellectual disability syndromic and non-syndromic v0.2607 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2606 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2606 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2605 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.142 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Callosome v0.142 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.142 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Callosome v0.141 EMX2 Zornitza Stark Publications for gene: EMX2 were set to 8528262; 9359037; 9153481; 9153481; 18409201
Callosome v0.140 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Callosome v0.139 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Callosome v0.139 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.139 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Callosome v0.139 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.138 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: RED; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: None
Genetic Epilepsy v0.689 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Genetic Epilepsy v0.689 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.689 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Genetic Epilepsy v0.688 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Genetic Epilepsy v0.688 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Genetic Epilepsy v0.687 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.686 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Genetic Epilepsy v0.686 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2655 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Genetic Epilepsy v0.685 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Cerebellar and Pontocerebellar Hypoplasia v0.120 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.119 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506)
Cerebellar and Pontocerebellar Hypoplasia v0.117 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to
Cerebellar and Pontocerebellar Hypoplasia v0.116 PPP1CB Zornitza Stark Mode of inheritance for gene: PPP1CB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.115 PPP1CB Zornitza Stark Classified gene: PPP1CB as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.115 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.114 PPP1CB Zornitza Stark reviewed gene: PPP1CB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Added comment: Comment when marking as ready: Agree, appears a rare manifestation of this syndrome.
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Classified gene: FOXP1 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mandibulofacial Acrofacial dysostosis v0.3 TCOF1 Melanie Marty changed review comment from: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).; to: The majority of the variants reported are PTCs that lead to truncation or NMD, only a few missense have been reported (ClinVar; PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).
Mandibulofacial Acrofacial dysostosis v0.3 TCOF1 Melanie Marty changed review comment from: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).; to: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).
Mandibulofacial Acrofacial dysostosis v0.3 TCOF1 Melanie Marty reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.113 MACF1 Crystle Lee gene: MACF1 was added
gene: MACF1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation (MIM#618325)
Mode of pathogenicity for gene: MACF1 was set to Other
Review for gene: MACF1 was set to GREEN
Added comment: Pontine/Vermis hypoplasia reported in multiple patients with de novo missense variants within the GAR domain

PMID: 30471716; Dobyns 2018: Reported 3 different missense in 7 patients. All reported with brainsteam/cerebellum hypoplasia (Pontine hypoplasia/ Vermis hypoplasia). Postulated to exert Gain of function or dominant negative mechanism

Green in PanelApp UK list
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 LARGE1 Elena Savva gene: LARGE1 was added
gene: LARGE1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Walker Warburg syndrome
Added comment: Gross deletions and rearrangements are commonly reported for this gene (PMID: 24709677)

PMID: 17878207 - single reported patient with WWS had cerebellar hypoplasia, died in infancy. Patient had a heterozygous PTC.

PMID: 19067344 - 2 chet patients (missense/PTC) had congenital muscular dystrophy. Patients were both reported with hypoplastic pontine abnormality, one also had a dysplastic vermis. A third patient is reported but this is the same as ^.

PMID: 24709677 - 4 patients.
1/4 mild pontine hyoplasia and inferior vermis hypoplasia, 1/4 very small pons, hypoplastic brainstem and cerebellar cysts, 1/4 small pons, 1/4 hypoplastic pons.
3/4 were diagnosed with WWS, 1/4 with Fukuyama Congenital Muscular Dystrophy
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMGNT1 Crystle Lee gene: POMGNT1 was added
gene: POMGNT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 19067344
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (MIM#253280)
Review for gene: POMGNT1 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 (OMIM)

PMID: 19067344; Clement 2008: Reported 7 patients, all showed either cerebellar or pontine hypoplasia and cerebellar cysts
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMGNT2 Crystle Lee gene: POMGNT2 was added
gene: POMGNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to 22958903; 27066570
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (MIM#614830)
Review for gene: POMGNT2 was set to GREEN
Added comment: POMGNT2 (also known as GTDC2). Associated phenotype also referred to as Walker-Warburg syndrome.

PMID: 22958903; Manzini 2012: 3 different hom variants in 3 consang. families, all reported with cerebellar hypoplasia. (2 nonsense and 1 missense). "knockdown in zebrafish showed all WWS features (hydrocephalus, ocular defects, and muscular dystrophy)"

PMID: 27066570; Endo 2015: reported 3 hom/chet missense with no cerebellar hypoplasia. Missense variants showed to reduced activity, which likely explains the milder phenotype.

Green in PanelApp UK list.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 KIAA1109 Elena Savva reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 ISPD Elena Savva gene: ISPD was added
gene: ISPD was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to PMID: 22522421; 22522420
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Walker–Warburg syndrome
Review for gene: ISPD was set to GREEN
Added comment: PMID: 22522421 - 11 patients with severe WWS, only two survived beyond 2 years of age. "Routine cerebral MRI
showed typical features of cobblestone lissencephaly together with hydrocephalus, cerebellar hypoplasia and a kinked brainstem".
10/11 patients either had chet mutations (missense, PTC) or homozygous PTCs/exon deletions, and diagnosed with either WSS or MEB. A single patient was homozygous for a missense. 10/11 reported specifically with "cerebellar abnormalities", no specific numbers for cerebellar hypoplasia.

PMID: 22522420 - single patient with WWS, chet for exon deletions/PTC. MRI taken at 5 months of age shows hypoplastic brainstem and cerebellar vermis.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 GPAA1 Elena Savva reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29100095, 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMT1 Crystle Lee gene: POMT1 was added
gene: POMT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 24491487; 31311558
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (MIM#613155)
Review for gene: POMT1 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (previously Walker-Warburg syndrome) and type B1 (OMIM)

PMID: 24491487; Wallace 2015: Reports 3 patients and reviews variability of clinical outcomes associated with a single frameshift variant (ie h chet missense/fs associated with less severe phenotype).

PMID: 31311558; Geis 2019: Multiple WWS families reported. Cerebellar hypoplasia is a consistent feature.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30257713, 30684953, 23768512; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva Deleted their review
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva gene: GMPPB was added
gene: GMPPB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to PMID: 30257713; 30684953; 23768512
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Added comment: Decipher: Patient: 363842 is described with abnormality of the cerebellar vermis

PMID: 30257713 - 3/6 patients with MRIs has mild cerebellar hypoplasia. Patients were all chet with mostly two missense in trans, or a missense/PTC. All patients with hypoplasia were diagnosed with congenital muscular dystrophy with cerebellar involvement (CRB). Age at examination unknown, patients range from 20 months - 74 years old).

PMID: 30684953 - patient with Limb-girdle muscular dystrophy, MRI was normal. Patient had chet missense.

PMID: 23768512 - 3/7 patients had cerebellar/pontine hypoplasia. Patients were diagnosed with MEB, muscle-eye-brain disease or CRB.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMT2 Crystle Lee gene: POMT2 was added
gene: POMT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 15894594; 17634419
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (MIM#613150); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 (MIM#613156)
Review for gene: POMT2 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy type A2 (previously Walker-Warburg syndrome) and B2 (OMIM). Severity of phenotype likely correlates with amount of residual activity.

PMID: 15894594; van Reeuwijk 2005: Reported LoF type variants in 3 families. Cerebellar hypoplasia reported in 2 patients.

PMID: 17634419; Yanagisawa 2007: Cerebellar vermis hypoplasis was a feature all 4 patients reported. (Hom missense and chet missense/nonsense)
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 FOXP1 Elena Savva reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 29090079, 28735298; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.113 PPP1CB Crystle Lee reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27264673, 28211982, 30236064; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.113 FKTN Elena Savva gene: FKTN was added
gene: FKTN was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to PMID: 17878207; 25821721; 19342235; 18177472; 12601708
Phenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome
Review for gene: FKTN was set to AMBER
Added comment: PMID: 17878207 - 1/6 unrelated families had cerebellar hypoplasia, patient was homozygous for a PTC, had Walker-Warburg syndrome (WWS)

PMID: 25821721 - 1 patient with muscular dystrophy, had a normal MRI and two chet missense.

PMID: 19342235 - 2 siblings chet for two missense, do not report any cognitive issues. No MRI, were diagnosed with Limb-Girdle Muscular Dystrophy Without Mental Retardation

PMID: 18177472 - Two patients with WWS, one died soon after birth and was chet for a missense and 3' UTR deletion. This patient only had an MRI showing severe brain malformation but no mention of cerebellar hypoplasia. The second patient was homozygous for a PTC.

PMID: 12601708 - 1 patient with WWS and a homozygous PTC. Patient was an infant and tomography showed cortical atrophy

Summary: Cerebellar hypoplasia may be a feature exclusive to severe WWS, which requires two null/near-null alleles. Need more reports to make it GREEN
Sources: Expert Review
Mendeliome v0.2655 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Mendeliome v0.2655 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.113 ROBO3 Crystle Lee gene: ROBO3 was added
gene: ROBO3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO3 were set to 15105459
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)
Review for gene: ROBO3 was set to GREEN
Added comment: Pontine hypoplasia is a feature of the associated phenotype.

PMID: 15105459; Jen 2004: Reported hom variants in 10 patients.
Sources: Expert Review
Mendeliome v0.2655 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Mendeliome v0.2654 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Mendeliome v0.2653 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2652 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Mendeliome v0.2652 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2651 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.113 FKRP Elena Savva gene: FKRP was added
gene: FKRP was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to PMID: 16476814; 21293871; 20236121
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Walker–Warburg syndrome
Review for gene: FKRP was set to GREEN
Added comment: PMID: 16476814 - Pons/cerebellar hypoplasia reported in 3/13 patients with MRI results (aged 22 months - 11 years), additional 4/13 had cerebellar cysts. One patient had MED, the other WWS (Walker-Warburg syndrome)
Describes other papers where patients had vermis hypoplasia.

PMID: 21293871 - 2/9 patients with MRI scan had cerebellar atrophy (aged 65, 69 years old), patients had limb-girdle muscular dystrophy 2I

PMID: 20236121 - 2 homozygous siblings with Walker–Warburg syndrome. Postnatal MRI of one sibling shows cerbellar vermis and cortex hypoplasia

Summary: Uncommon feature but reported in >3 patients, more commonly with Walker-Warburg syndrome patients
Sources: Expert Review
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Gene: fig4 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from to Polymicrogyria with epilepsy MIM# 612691
Polymicrogyria and Schizencephaly v0.56 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Polymicrogyria and Schizencephaly v0.55 FIG4 Zornitza Stark Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.54 FIG4 Zornitza Stark Classified gene: FIG4 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.54 FIG4 Zornitza Stark Gene: fig4 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.53 FIG4 Lauren Akesson reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18758830, 24598713; Phenotypes: ? Polymicrogyria with epilepsy MIM# 612691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly MIM# 269160
Polymicrogyria and Schizencephaly v0.52 EMX2 Zornitza Stark Publications for gene: EMX2 were set to 8528262; 9359037; 9153481
Polymicrogyria and Schizencephaly v0.51 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Polymicrogyria and Schizencephaly v0.50 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.49 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.49 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.48 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343
Cobblestone Malformations v0.4 COL3A1 Zornitza Stark Publications for gene: COL3A1 were set to
Cobblestone Malformations v0.3 COL3A1 Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 MIM# 267750
Polymicrogyria and Schizencephaly v0.47 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Polymicrogyria and Schizencephaly v0.46 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.37 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Hereditary Neuropathy_CMT - isolated v0.37 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.37 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot Marie Tooth disease, axonal, type 2K, 607831; HMSN; Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, recessive intermediate, A, 608340 to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Hereditary Neuropathy_CMT - isolated v0.36 GDAP1 Zornitza Stark Publications for gene: GDAP1 were set to
Hereditary Neuropathy_CMT - isolated v0.35 GDAP1 Zornitza Stark reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16172208, 21753178, 21365284, 20232219, 11743580; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340, Charcot-Marie-Tooth disease, type 4A, MIM# 214400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2605 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Intellectual disability syndromic and non-syndromic v0.2604 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Intellectual disability syndromic and non-syndromic v0.2603 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2602 ATAD3A Zornitza Stark edited their review of gene: ATAD3A: Added comment: Note mode of pathogenicity includes:
i) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter
ii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene; Changed publications: 27640307, 32004445, 28549128; Changed phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Classified gene: ATAD3A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.112 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
SV/CNV tags were added to gene: ATAD3A.
Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 28549128
Phenotypes for gene: ATAD3A were set to Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810
Review for gene: ATAD3A was set to GREEN
Added comment: Four unrelated families reported with deletions that generate chimeric ATAD3B/ATAD3A fusion genes and fatal congenital pontocerebellar hypoplasia. One family with genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displayed later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia.
Sources: Expert Review
Mendeliome v0.2651 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Mendeliome v0.2650 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Mendeliome v0.2649 ATAD3A Zornitza Stark edited their review of gene: ATAD3A: Added comment: Mode of pathogenicity includes:
i) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter
ii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene; Changed publications: 27640307, 32004445, 28549128; Changed phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Mitochondrial disease v0.442 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810
Mitochondrial disease v0.441 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Mitochondrial disease v0.440 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Mitochondrial disease v0.439 GDAP1 Kristin Rigbye reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.439 ATAD3A David Thorburn reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28549128; Phenotypes: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2649 CTSA Zornitza Stark Marked gene: CTSA as ready
Mendeliome v0.2649 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Mendeliome v0.2649 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540; Cathepsin A-related arteriopathy with strokes and leukoencephalopathy
Mendeliome v0.2648 CTSA Zornitza Stark Publications for gene: CTSA were set to
Mendeliome v0.2647 CTSA Zornitza Stark Mode of inheritance for gene: CTSA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2646 CTSA Zornitza Stark Deleted their comment
Mendeliome v0.2646 CTSA Zornitza Stark commented on gene: CTSA: Mono-allelic variants cause arteriopathy with strokes and leukodystrophy.
Polymicrogyria and Schizencephaly v0.45 EMX2 Lauren Akesson reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8528262, 9359037, 9153481; Phenotypes: Schizencephaly MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cobblestone Malformations v0.2 COL3A1 Lauren Akesson reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.45 COL18A1 Lauren Akesson reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25456301, 19160445, 17546652; Phenotypes: Knobloch syndrome, type 1 MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.27 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31842800; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM# 615809
Cerebellar and Pontocerebellar Hypoplasia v0.110 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.109 AMPD2 Zornitza Stark Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.108 AMPD2 Zornitza Stark commented on gene: AMPD2: At least six families reported.
Cerebellar and Pontocerebellar Hypoplasia v0.108 AMPD2 Zornitza Stark reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911318, 27066553; Phenotypes: Pontocerebellar hypoplasia, type 9, MIM# 615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2646 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.2645 MN1 Zornitza Stark edited their review of gene: MN1: Changed phenotypes: CEBALID syndrome, MIM#618774, Intellectual disability, dysmophic features, rhombencephalosynapsis
Intellectual disability syndromic and non-syndromic v0.2602 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis
Intellectual disability syndromic and non-syndromic v0.2601 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2600 MN1 Zornitza Stark edited their review of gene: MN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Classified gene: PTF1A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.107 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTF1A were set to 21749365; 10507728; 15543146; 19650412
Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069
Review for gene: PTF1A was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.105 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273
Review for gene: MAST1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene and a mouse model.
Sources: Expert list
Mendeliome v0.2645 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Mendeliome v0.2645 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2645 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Mendeliome v0.2644 PI4KA Zornitza Stark Publications for gene: PI4KA were set to
Mendeliome v0.2643 PI4KA Zornitza Stark Mode of inheritance for gene: PI4KA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2642 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Mendeliome v0.2642 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2641 PI4KA Zornitza Stark reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25855803; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Polymicrogyria and Schizencephaly v0.44 PI4KA Zornitza Stark Publications for gene: PI4KA were set to
Polymicrogyria and Schizencephaly v0.43 PI4KA Zornitza Stark Mode of inheritance for gene: PI4KA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.42 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.42 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.41 PI4KA Zornitza Stark reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25855803; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.103 PI4KA Zornitza Stark gene: PI4KA was added
gene: PI4KA was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 25855803
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Review for gene: PI4KA was set to AMBER
Added comment: Single family reported, aware of at least one other yet to be published family identified internally.
Sources: Expert list
Mendeliome v0.2641 CDK5 Zornitza Stark changed review comment from: Single consanguineous family with multiple affected individuals reported.; to: Single consanguineous family with multiple affected individuals reported.
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark changed review comment from: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent.
Sources: Expert list; to: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark gene: CDK5 was added
gene: CDK5 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Review for gene: CDK5 was set to RED
Added comment: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent.
Sources: Expert list
Callosome v0.138 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Callosome v0.138 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Callosome v0.138 CDK5 Zornitza Stark Phenotypes for gene: CDK5 were changed from to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Callosome v0.137 CDK5 Zornitza Stark Publications for gene: CDK5 were set to
Callosome v0.136 CDK5 Zornitza Stark Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.135 CDK5 Zornitza Stark Classified gene: CDK5 as Red List (low evidence)
Callosome v0.135 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Callosome v0.134 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2641 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Mendeliome v0.2641 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Mendeliome v0.2641 CDK5 Zornitza Stark Phenotypes for gene: CDK5 were changed from to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Mendeliome v0.2640 CDK5 Zornitza Stark Publications for gene: CDK5 were set to
Mendeliome v0.2639 CDK5 Zornitza Stark Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2638 CDK5 Zornitza Stark Classified gene: CDK5 as Red List (low evidence)
Mendeliome v0.2638 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Mendeliome v0.2637 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark gene: CDK5 was added
gene: CDK5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Review for gene: CDK5 was set to RED
Added comment: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.100 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000
Review for gene: OXR1 was set to GREEN
Added comment: 5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486
Cerebellar and Pontocerebellar Hypoplasia v0.98 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.97 OPHN1 Zornitza Stark Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.96 OPHN1 Zornitza Stark reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.121 VPS51 Zornitza Stark changed review comment from: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list; to: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable. Microcephaly -3/-4SD.
Sources: Expert list
Microcephaly v0.121 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2599 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Mendeliome v0.2637 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Mendeliome v0.2637 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2637 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Mendeliome v0.2637 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2636 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.95 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Cerebellar and Pontocerebellar Hypoplasia v0.93 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Cerebellar and Pontocerebellar Hypoplasia v0.92 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.91 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Cerebellar and Pontocerebellar Hypoplasia v0.90 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.89 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Marked gene: TERT as ready
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Classified gene: TERT as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Marked gene: EXOSC9 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Phenotypes for gene: EXOSC9 were changed from to Pontocerebellar hypoplasia, type 1D 618065
Cerebellar and Pontocerebellar Hypoplasia v0.86 EXOSC9 Zornitza Stark Publications for gene: EXOSC9 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.85 EXOSC9 Zornitza Stark Mode of inheritance for gene: EXOSC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.84 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
Cerebellar and Pontocerebellar Hypoplasia v0.82 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.81 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Marked gene: SETD2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Gene: setd2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome (MIM#616831)
Cerebellar and Pontocerebellar Hypoplasia v0.79 SETD2 Zornitza Stark Publications for gene: SETD2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.78 SETD2 Zornitza Stark Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.77 SETD2 Zornitza Stark Classified gene: SETD2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.77 SETD2 Zornitza Stark Gene: setd2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Gene: rab11b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)
Cerebellar and Pontocerebellar Hypoplasia v0.75 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Cerebellar and Pontocerebellar Hypoplasia v0.74 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.73 RAB11B Zornitza Stark Classified gene: RAB11B as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.73 RAB11B Zornitza Stark Gene: rab11b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Gene: pus3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55 (MIM#617051)
Cerebellar and Pontocerebellar Hypoplasia v0.71 PUS3 Zornitza Stark Publications for gene: PUS3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.70 PUS3 Zornitza Stark Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.69 PUS3 Zornitza Stark Classified gene: PUS3 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.69 PUS3 Zornitza Stark Gene: pus3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Marked gene: LAT as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Classified gene: LAT as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.5 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAT were set to 27242165; 27522155
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.4 Zornitza Stark removed gene:SPNS1 from the panel
Cerebellar and Pontocerebellar Hypoplasia v0.68 PUS3 Crystle Lee reviewed gene: PUS3: Rating: RED; Mode of pathogenicity: None; Publications: 27055666, 30308082, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55 (MIM#617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 RAB11B Crystle Lee reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Leukodystrophy - adult onset v0.27 AUH Zornitza Stark changed review comment from: Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels.; to: Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels. Specifically, two individuals with late onset disease including leukodystrophy reported.
Leukodystrophy - adult onset v0.27 AUH Zornitza Stark edited their review of gene: AUH: Changed publications: 20855850
Leukodystrophy - adult onset v0.27 GCDH Zornitza Stark Marked gene: GCDH as ready
Leukodystrophy - adult onset v0.27 GCDH Zornitza Stark Gene: gcdh has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.27 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I, MIM#231670 to Glutaric aciduria, type I, MIM#231670
Leukodystrophy - adult onset v0.26 GCDH Zornitza Stark Classified gene: GCDH as Amber List (moderate evidence)
Leukodystrophy - adult onset v0.26 GCDH Zornitza Stark Gene: gcdh has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.25 GCDH Zornitza Stark reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 15985591; Phenotypes: Glutaric aciduria, type I 231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.25 GAN Zornitza Stark Marked gene: GAN as ready
Leukodystrophy - adult onset v0.25 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.25 GAN Zornitza Stark Classified gene: GAN as Red List (low evidence)
Leukodystrophy - adult onset v0.25 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.24 GAN Zornitza Stark reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.24 DCAF17 Zornitza Stark Marked gene: DCAF17 as ready
Leukodystrophy - adult onset v0.24 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.24 DCAF17 Zornitza Stark reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Woodhouse-Sakati syndrome, MIM# 241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2635 CTSA Zornitza Stark changed review comment from: Bi-allelic variants cause galactosialidosis, and mono-allelic variants cause CARASAL.; to: Bi-allelic variants associated with galactosialidosis, and mono-allelic variants associated with CARASAL.
Mendeliome v0.2635 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31177426; Phenotypes: Galactosialidosis, MIM# 256540, Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.24 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31177426; Phenotypes: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - adult onset v0.24 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Leukodystrophy - adult onset v0.24 CTC1 Zornitza Stark Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.24 CTC1 Zornitza Stark Publications for gene: CTC1 were set to
Leukodystrophy - adult onset v0.23 CTC1 Zornitza Stark Classified gene: CTC1 as Amber List (moderate evidence)
Leukodystrophy - adult onset v0.23 CTC1 Zornitza Stark Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.22 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22267198, 22387016, 22532422; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.62 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Leukodystrophy - paediatric v0.62 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.62 CTC1 Zornitza Stark Classified gene: CTC1 as Green List (high evidence)
Leukodystrophy - paediatric v0.62 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.61 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22267198; 22387016
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Review for gene: CTC1 was set to GREEN
Added comment: Onset typically in infancy/childhood with intracranial calcifications, leukoencephalopathy, and early-onset retinal changes, associated with extra-neurologic manifestations including early-onset bone fractures, gastrointestinal ectasia, and variable hair, nail, and skin changes, and/or anemia.
Sources: Expert list
Leukodystrophy - adult onset v0.22 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Leukodystrophy - adult onset v0.22 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.22 COL4A2 Zornitza Stark Classified gene: COL4A2 as Red List (low evidence)
Leukodystrophy - adult onset v0.22 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.21 COL4A2 Zornitza Stark reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2, MIM# 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.68 SETD2 Crystle Lee reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31643139, 31474318, 26084711; Phenotypes: Luscan-Lumish syndrome (MIM#616831); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.68 SLC25A46 Crystle Lee reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543974, 28637197, 28376086, 26168012; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC9 Elena Savva reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2598 MN1 Chern Lim reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CEBALID syndrome, MIM#618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.60 AUH Zornitza Stark Marked gene: AUH as ready
Leukodystrophy - paediatric v0.60 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.60 AUH Zornitza Stark Classified gene: AUH as Green List (high evidence)
Leukodystrophy - paediatric v0.60 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.59 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM# 250950
Review for gene: AUH was set to GREEN
Added comment: Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels.
Sources: Expert list
Leukodystrophy - adult onset v0.21 AUH Zornitza Stark reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.58 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Leukodystrophy - paediatric v0.58 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.58 APOPT1 Zornitza Stark Classified gene: APOPT1 as Green List (high evidence)
Leukodystrophy - paediatric v0.58 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.57 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOPT1 were set to 25175347
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: APOPT1 was set to GREEN
Added comment: Cavitating leukodystrophy reported as part of this mitochondrial disorder, onset described as late infancy/early childhood.
Sources: Expert list
Leukodystrophy - adult onset v0.21 APOPT1 Zornitza Stark reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Added comment: Comment when marking as ready: Pre-print
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from to Developmental delays, short stature, cerebellar hypoplasia and motor weakness
Cerebellar and Pontocerebellar Hypoplasia v0.67 EXOSC5 Zornitza Stark Publications for gene: EXOSC5 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.66 EXOSC5 Zornitza Stark Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.65 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.65 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Classified gene: SMPD4 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, MIM# 300958
Cerebellar and Pontocerebellar Hypoplasia v0.62 DDX3X Zornitza Stark Publications for gene: DDX3X were set to
Cerebellar and Pontocerebellar Hypoplasia v0.61 EXOSC5 Elena Savva changed review comment from: No phenotype association in OMIM, emerging gene with a single paper

3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis; to: No phenotype association in OMIM, emerging gene with a single paper

3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis

Summary: 2/3 patients have cerebellar/vermis hypoplasia
Cerebellar and Pontocerebellar Hypoplasia v0.61 EXOSC5 Elena Savva reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1101/2020.04.01.839274; Phenotypes: Developmental delays, short stature, cerebellar hypoplasia and motor weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.61 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X was changed from Unknown to Other
Cerebellar and Pontocerebellar Hypoplasia v0.60 DDX3X Zornitza Stark Classified gene: DDX3X as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.60 DDX3X Zornitza Stark Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.59 DDX3X Zornitza Stark reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: 30936465; Phenotypes: Mental retardation, X-linked 102, MIM# 300958; Mode of inheritance: Other
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Classified gene: SNX14 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Marked gene: TBCK as ready
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Added comment: Comment when marking as ready: Agree, uncertain about whether reported findings truly reflect cerebellar/pontocerebellar hypoplasia.
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Marked gene: TBCK as ready
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900)
Cerebellar and Pontocerebellar Hypoplasia v0.57 TBCK Zornitza Stark Publications for gene: TBCK were set to
Cerebellar and Pontocerebellar Hypoplasia v0.56 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.55 TBCK Zornitza Stark Classified gene: TBCK as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.55 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Classified gene: DKC1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.53 DKC1 Elena Savva gene: DKC1 was added
gene: DKC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Review for gene: DKC1 was set to GREEN
Added comment: OMIM - Cerebellar ataxia (seen in HHS variant), Cerebellar hypoplasia (seen in HHS variant)
Hoyeraal-Hreidarsson Syndrome is the severe form of Dyskeratosis congenita

PMID: 31269755 - 1 child with cerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome*

PMID: 26951492 - 1 child with pontocerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome*

PMID: 29081935 - 1 family (2 first cousins) with the same variant. One has DC, the other HHS and cerebellar hypoplasia*

PMID: 24914498 - 1 baby (3 months old) with a missense in exon 3 and Hoyeraal-Hreidarsson syndrome and cerebellar atrophy.

*All missense found close together in exon 11

Summary: is a common feature of severe Hoyeraal-Hreidarsson syndrome
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 SMPD4 Crystle Lee gene: SMPD4 was added
gene: SMPD4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)
Review for gene: SMPD4 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of the associated OMIM phenotype.

Magini 2019: Reported 23 patients from 12 unrelated families. Cerebellar hypoplasia was one of the main features.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 DDX3X Elena Savva reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26235985, 30936465; Phenotypes: Mental retardation, X-linked 102 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.53 SNX14 Crystle Lee gene: SNX14 was added
gene: SNX14 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX14 were set to 25439728; 24501761; 25848753
Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Review for gene: SNX14 was set to AMBER
Added comment: Not sure if cerebellar hypoplasia or atrophy. Appears to be mostly atrophy but early onset.

Green in PanelApp UK: "Unclear if predominantly cerebellar atrophy/hypoplasia. Childhood presentation reported" 2016

Thomas 2014: 7 affected individuals from 3 unrelated consanguineous families. Appears to be predominantly cerebellar atrophy, 4 of which were progressive.

Sousa 2014: Reported cerebellar hypotrophy in 2 sisters (>15 years old). Noted as cerebellar hypoplasia in OMIM.

Akizu 2015: 12 families with cerebellar atrophy. Childhood-onset recessive cerebellar atrophy with ataxia (supp data indicates all <5 years old)
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 TBCK Crystle Lee edited their review of gene: TBCK: Changed publications: 27040692, 30103036, 27040691
Cerebellar and Pontocerebellar Hypoplasia v0.53 TBCK Crystle Lee reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27040692; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.53 TERT Crystle Lee gene: TERT was added
gene: TERT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERT were set to 17785587
Phenotypes for gene: TERT were set to Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989)
Review for gene: TERT was set to AMBER
Added comment: 1 patient reported with cerebellar hypoplasia.

Marrone (2007): Reported hom missense (not in gnomAD) in 1 patient from consang fam with Hoyeraal-Hreidarsson syndrome, which is a severe variant of DKC
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Marked gene: GALT as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Added comment: Comment when marking as ready: Only screened in Victoria as galactosaemia is not part of newborn screening.
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Gene: galt has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Classified gene: GALT as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Gene: galt has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease; New South Wales Health Pathology; PathWest
Genetic Epilepsy v0.685 CDK19 Zornitza Stark Marked gene: CDK19 as ready
Genetic Epilepsy v0.685 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.685 CDK19 Zornitza Stark Classified gene: CDK19 as Green List (high evidence)
Genetic Epilepsy v0.685 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.684 CDK19 Zornitza Stark gene: CDK19 was added
gene: CDK19 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy
Review for gene: CDK19 was set to GREEN
Added comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Marked gene: CDK19 as ready
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Classified gene: CDK19 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2597 CDK19 Zornitza Stark gene: CDK19 was added
gene: CDK19 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy
Review for gene: CDK19 was set to GREEN
Added comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data.
Sources: Literature
Mendeliome v0.2635 CDK19 Zornitza Stark Marked gene: CDK19 as ready
Mendeliome v0.2635 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Mendeliome v0.2635 CDK19 Zornitza Stark Classified gene: CDK19 as Green List (high evidence)
Mendeliome v0.2635 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Mendeliome v0.2634 CDK19 Zornitza Stark gene: CDK19 was added
gene: CDK19 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy
Review for gene: CDK19 was set to GREEN
Added comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2596 PTPN23 Zornitza Stark Marked gene: PTPN23 as ready
Intellectual disability syndromic and non-syndromic v0.2596 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2596 PTPN23 Zornitza Stark Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2595 PTPN23 Zornitza Stark Publications for gene: PTPN23 were set to
Intellectual disability syndromic and non-syndromic v0.2594 PTPN23 Zornitza Stark Phenotypes for gene: PTPN23 were changed from to Intellectual disability; brain abnormalities; seizures; optic atrophy; microcephaly
Intellectual disability syndromic and non-syndromic v0.2593 PTPN23 Zornitza Stark reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947; Phenotypes: Intellectual disability, brain abnormalities, seizures, optic atrophy, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2633 MNS1 Zornitza Stark Marked gene: MNS1 as ready
Mendeliome v0.2633 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Mendeliome v0.2633 MNS1 Zornitza Stark Classified gene: MNS1 as Green List (high evidence)
Mendeliome v0.2633 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Mendeliome v0.2632 MNS1 Zornitza Stark gene: MNS1 was added
gene: MNS1 was added to Mendeliome. 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, three LoF variants. Four Amish families 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
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
Ataxia - paediatric v0.213 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Ataxia - paediatric v0.212 SCYL1 Zornitza Stark edited their review of gene: SCYL1: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719, Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Mendeliome v0.2631 DHX37 Zornitza Stark Marked gene: DHX37 as ready
Mendeliome v0.2631 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Mendeliome v0.2631 DHX37 Zornitza Stark Classified gene: DHX37 as Green List (high evidence)
Mendeliome v0.2631 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Mendeliome v0.2630 DHX37 Zornitza Stark gene: DHX37 was added
gene: DHX37 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DHX37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX37 were set to 31337883; 31745530
Phenotypes for gene: DHX37 were set to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS)
Review for gene: DHX37 was set to GREEN
Added comment: Seventeen individuals with 46,XY gonadal dysgenesis reported in two studies.
Sources: Literature
Mendeliome v0.2629 ALPK1 Zornitza Stark Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome; ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Mendeliome v0.2628 ALPK1 Zornitza Stark Classified gene: ALPK1 as Green List (high evidence)
Mendeliome v0.2628 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.23 DHX37 Zornitza Stark Marked gene: DHX37 as ready
Differences of Sex Development v0.23 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Differences of Sex Development v0.23 DHX37 Zornitza Stark Classified gene: DHX37 as Green List (high evidence)
Differences of Sex Development v0.23 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Differences of Sex Development v0.22 DHX37 Zornitza Stark gene: DHX37 was added
gene: DHX37 was added to Disorders of Sex Differentiation. Sources: Literature
Mode of inheritance for gene: DHX37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX37 were set to 31337883; 31745530
Phenotypes for gene: DHX37 were set to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS)
Review for gene: DHX37 was set to GREEN
Added comment: Seventeen individuals reported in two studies.
Sources: Literature
Vitreoretinopathy v0.7 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Vitreoretinopathy v0.7 JAG1 Zornitza Stark Gene: jag1 has been classified as Amber List (Moderate Evidence).
Vitreoretinopathy v0.7 JAG1 Zornitza Stark Classified gene: JAG1 as Amber List (moderate evidence)
Vitreoretinopathy v0.7 JAG1 Zornitza Stark Gene: jag1 has been classified as Amber List (Moderate Evidence).
Vitreoretinopathy v0.6 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Vitreoretinopathy. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 31273345
Phenotypes for gene: JAG1 were set to Familial exudative vitreoretinopathy
Review for gene: JAG1 was set to AMBER
Added comment: Three families reported with rare variants in JAG1: c.413C>T p. (A138V), c.1415G>A p. (R472H), and c.2884A>G p. (T962A. Some functional data.
Sources: Literature
Mendeliome v0.2627 RAMP2 Zornitza Stark Marked gene: RAMP2 as ready
Mendeliome v0.2627 RAMP2 Zornitza Stark Gene: ramp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2627 RAMP2 Zornitza Stark Classified gene: RAMP2 as Amber List (moderate evidence)
Mendeliome v0.2627 RAMP2 Zornitza Stark Gene: ramp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2626 RAMP2 Zornitza Stark gene: RAMP2 was added
gene: RAMP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAMP2 were set to 31000793
Phenotypes for gene: RAMP2 were set to Primary open angle glaucoma
Review for gene: RAMP2 was set to AMBER
Added comment: Six variants identified in 16 of 4763 POAG patients from large cohorts; none identified in 10,953 control individuals. Some functional data.
Sources: Literature
Mendeliome v0.2625 ALPK1 Zornitza Stark changed review comment from: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature; to: Three unrelated families reported with PFAPA phenotype. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Mendeliome v0.2625 ALPK1 Zornitza Stark edited their review of gene: ALPK1: Added comment: Six unrelated families reported with same recurrent missense variant c.710C>T, (p.Thr237Met) and ROSAH syndrome phenotype. Pancytopaenia and recurrent infections present in some.; Changed rating: GREEN; Changed publications: 31053777, 30967659, 31939038; Changed phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, ROSAH syndrome, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Mendeliome v0.2625 MEPE Zornitza Stark Classified gene: MEPE as Amber List (moderate evidence)
Mendeliome v0.2625 MEPE Zornitza Stark Gene: mepe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2624 MEPE Zornitza Stark gene: MEPE was added
gene: MEPE was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPE were set to 30287925
Phenotypes for gene: MEPE were set to hereditary congenital facial paresis; otosclerosis
Review for gene: MEPE was set to AMBER
Added comment: Single four-generation family reported with variant in this gene segregating nonprogressive HCFP and mixed hearing loss (HL). Damaging variants (truncating/frameshift) found to be enriched in otosclerosis cohort (p = 0.0006–0.0060).
Sources: Literature
Mendeliome v0.2623 PAICS Zornitza Stark Marked gene: PAICS as ready
Mendeliome v0.2623 PAICS Zornitza Stark Gene: paics has been classified as Red List (Low Evidence).
Mendeliome v0.2623 PAICS Zornitza Stark gene: PAICS was added
gene: PAICS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779
Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities
Review for gene: PAICS was set to RED
Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function.
Sources: Literature
Cholestasis v0.18 GALM Zornitza Stark Marked gene: GALM as ready
Cholestasis v0.18 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cholestasis v0.18 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Cholestasis v0.18 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cholestasis v0.17 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)

Note only two individuals were reported as having transient cholestasis.
Sources: Literature
Cataract v0.138 GALM Zornitza Stark Marked gene: GALM as ready
Cataract v0.138 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cataract v0.138 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Cataract v0.138 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cataract v0.137 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to Cataract. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)

Note only two of the reported individuals had cataracts.
Sources: Literature
Mendeliome v0.2622 GALM Zornitza Stark Marked gene: GALM as ready
Mendeliome v0.2622 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Mendeliome v0.2622 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Mendeliome v0.2622 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Mendeliome v0.2621 POLR3GL Zornitza Stark Marked gene: POLR3GL as ready
Mendeliome v0.2621 POLR3GL Zornitza Stark Added comment: Comment when marking as ready: Three cases altogether but the phenotypes are very different -- may still represent a spectrum with the more severe phenotypes resulting from truncating variants but further cases needed.
Mendeliome v0.2621 POLR3GL Zornitza Stark Gene: polr3gl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2621 POLR3GL Zornitza Stark Classified gene: POLR3GL as Amber List (moderate evidence)
Mendeliome v0.2621 POLR3GL Zornitza Stark Gene: polr3gl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2620 GALM Hazel Phillimore gene: GALM was added
gene: GALM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to PMID: 30451973; 30910422
Phenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia.
In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973)
In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)
Sources: Literature
Mendeliome v0.2620 POLR3GL Paul De Fazio gene: POLR3GL was added
gene: POLR3GL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3GL were set to 31089205; 31695177
Phenotypes for gene: POLR3GL were set to endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy
Review for gene: POLR3GL was set to AMBER
gene: POLR3GL was marked as current diagnostic
Added comment: Biallelic canonical splice variants were identified in monozygotic twins and another individual with similar phenotypes from 2 unrelated families. Variants were inherited from carrier parents. RNA studies confirmed exon skipping occurs in all affected individuals.

A separate study identified a homozygous nonsense variant in an individual with features of Neonatal progeroid syndrome/Wiedemann–Rautenstrauch syndrome. Quantitative PCR showed reduction in mRNA suggestive of NMD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2593 PHF21A Zornitza Stark Phenotypes for gene: PHF21A were changed from no OMIM number yet. to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725
Intellectual disability syndromic and non-syndromic v0.2592 PHF21A Zornitza Stark edited their review of gene: PHF21A: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2592 PHF21A Zornitza Stark reviewed gene: PHF21A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 618725; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2592 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from Epileptic encephalopathy, early infantile, 65, MIM#618008 to Epileptic encephalopathy, early infantile, 65, MIM#618008; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2591 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to 29534297
Intellectual disability syndromic and non-syndromic v0.2590 CYFIP2 Zornitza Stark edited their review of gene: CYFIP2: Added comment: Further 12 independent patients with a variety of de novo variants in CYFIP2 reported with eight distinct de novo variants and a shared phenotype of intellectual disability, seizures, and muscular hypotonia. Seven different missense variants detected, of which two occurred recurrently (p.(Arg87Cys) and p.(Ile664Met)). Preliminary genotype–phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations.; Changed publications: 29534297, 30664714; Changed phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008, Intellectual disability
Deafness_IsolatedAndComplex v0.344 TSPEAR Zornitza Stark Tag disputed tag was added to gene: TSPEAR.
Mendeliome v0.2620 TSPEAR Zornitza Stark Marked gene: TSPEAR as ready
Mendeliome v0.2620 TSPEAR Zornitza Stark Added comment: Comment when marking as ready: Association with isolated deafness is DISPUTED.
Mendeliome v0.2620 TSPEAR Zornitza Stark Gene: tspear has been classified as Green List (High Evidence).
Mendeliome v0.2620 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180
Mendeliome v0.2619 TSPEAR Zornitza Stark Publications for gene: TSPEAR were set to
Mendeliome v0.2618 TSPEAR Zornitza Stark Mode of inheritance for gene: TSPEAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2617 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Mendeliome v0.2617 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Mendeliome v0.2617 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from to Premature aging syndrome, Penttinen type, 601812
Mendeliome v0.2616 PDGFRB Zornitza Stark Mode of pathogenicity for gene: PDGFRB was changed from to Other
Mendeliome v0.2615 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to
Mendeliome v0.2614 PDGFRB Zornitza Stark Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark Marked gene: TBL1Y as ready
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark gene: TBL1Y was added
gene: TBL1Y was added to Deafness. Sources: Literature
Mode of inheritance for gene: TBL1Y was set to Other
Publications for gene: TBL1Y were set to 30341416
Phenotypes for gene: TBL1Y were set to Hearing loss
Review for gene: TBL1Y was set to RED
Added comment: Y-linked inheritance pattern. Complete segregation of a missense variant demonstrated in 9 affected males in a 5-generation pedigree. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2613 TBL1Y Zornitza Stark Marked gene: TBL1Y as ready
Mendeliome v0.2613 TBL1Y Zornitza Stark Added comment: Comment when marking as ready: Single family, some functional data.
Mendeliome v0.2613 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Mendeliome v0.2613 TBL1Y Zornitza Stark Classified gene: TBL1Y as Red List (low evidence)
Mendeliome v0.2613 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Mendeliome v0.2612 DGCR8 Zornitza Stark Marked gene: DGCR8 as ready
Mendeliome v0.2612 DGCR8 Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence).
Mendeliome v0.2612 DGCR8 Zornitza Stark Classified gene: DGCR8 as Red List (low evidence)
Mendeliome v0.2612 DGCR8 Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence).
Mendeliome v0.2611 TSPEAR Chern Lim changed review comment from: Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families. Functional study supported LoF. (PMIDs: 27736875, 30046887); to: Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families in 2 papers. Functional study supported LoF. (PMIDs: 27736875, 30046887)
Mendeliome v0.2611 TSPEAR Chern Lim reviewed gene: TSPEAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27736875, 30046887; Phenotypes: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2611 PDGFRB Ee Ming Wong changed review comment from: - > 3 unrelated families
- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs; to: - > 3 unrelated individuals diagnosed with Penttinen syndrome
- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs
Mendeliome v0.2611 PDGFRB Ee Ming Wong reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30573803, 26279204; Phenotypes: Premature aging syndrome, Penttinen type, 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2611 TBL1Y Paul De Fazio changed review comment from: 9 affected males in a single 5-generation pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature; to: Y-linked inheritance pattern. Complete segregation of a missense variant demonstrated in 9 affected males in a 5-generation pedigree. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2611 TBL1Y Paul De Fazio changed review comment from: 9 affected males in a single pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature; to: 9 affected males in a single 5-generation pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2611 TBL1Y Paul De Fazio gene: TBL1Y was added
gene: TBL1Y was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBL1Y was set to Other
Publications for gene: TBL1Y were set to 30341416
Phenotypes for gene: TBL1Y were set to Hearing loss
Review for gene: TBL1Y was set to RED
gene: TBL1Y was marked as current diagnostic
Added comment: 9 affected males in a single pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Marked gene: FOXF2 as ready
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Classified gene: FOXF2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.342 FOXF2 Zornitza Stark gene: FOXF2 was added
gene: FOXF2 was added to Deafness. Sources: Literature
Mode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXF2 were set to 30561639; 22022403
Phenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea
Review for gene: FOXF2 was set to AMBER
Added comment: Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.
Sources: Literature
Cataract v0.136 TDRD7 Zornitza Stark Marked gene: TDRD7 as ready
Cataract v0.136 TDRD7 Zornitza Stark Gene: tdrd7 has been classified as Green List (High Evidence).
Mendeliome v0.2611 FOXF2 Zornitza Stark Marked gene: FOXF2 as ready
Mendeliome v0.2611 FOXF2 Zornitza Stark Added comment: Comment when marking as ready: Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.
Mendeliome v0.2611 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2611 FOXF2 Zornitza Stark Classified gene: FOXF2 as Amber List (moderate evidence)
Mendeliome v0.2611 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2610 DGCR8 Chern Lim gene: DGCR8 was added
gene: DGCR8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGCR8 were set to 31805011
Phenotypes for gene: DGCR8 were set to Early-onset multinodular goiter and schwannomatosis
Review for gene: DGCR8 was set to RED
Added comment: A germline missense variant segregates in one family with autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter (MNG) with schwannomatosis. The missense is also a recurrent somatic missense variant in Wilms tumour. (PMID:31805011)
Sources: Literature
Cataract v0.136 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from to Cataract 36 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis
Cataract v0.135 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Cataract v0.134 TDRD7 Zornitza Stark Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.133 TDRD7 Zornitza Stark reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 28837160, 21436445; Phenotypes: Cataract 36 613887, glaucoma, nonobstructive azoospermia, arrested spermatogenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2610 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from to Cataract 36 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis
Mendeliome v0.2609 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Mendeliome v0.2608 TDRD7 Zornitza Stark Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2607 TDRD7 Ee Ming Wong reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28837160, 21436445; Phenotypes: cataract, glaucoma, nonobstructive azoospermia, arrested spermatogenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2607 FOXF2 Hazel Phillimore changed review comment from: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Sources: Literature; to: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Previous names for FOXF2 include FKHL6 and FREAC2.
Sources: Literature
Mendeliome v0.2607 FOXF2 Hazel Phillimore gene: FOXF2 was added
gene: FOXF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXF2 were set to PMID: 30561639; 22022403
Phenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea
Review for gene: FOXF2 was set to AMBER
Added comment: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Sources: Literature
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Congenital Myasthenia v0.20 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2607 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Mendeliome v0.2607 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Mendeliome v0.2607 COL13A1 Zornitza Stark Phenotypes for gene: COL13A1 were changed from to Myasthenic syndrome, congenital, 19 (OMIM #616720)
Mendeliome v0.2606 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Mendeliome v0.2605 COL13A1 Zornitza Stark Mode of inheritance for gene: COL13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2604 KIAA1161 Zornitza Stark Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome
Mendeliome v0.2603 KIAA1161 Zornitza Stark Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000
Hereditary Neuropathy_CMT - isolated v0.35 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Hereditary Neuropathy_CMT - isolated v0.35 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.35 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.35 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.34 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 32065591; 25707699
Phenotypes for gene: JAG1 were set to Peripheral neuropathy
Review for gene: JAG1 was set to GREEN
Added comment: Two unrelated families reported with CMT type 2. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature
Mendeliome v0.2602 COL13A1 Hazel Phillimore reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2602 KIAA1161 Hazel Phillimore reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29910000, 31009047; Phenotypes: Basal ganglia calcification, idiopathic, 7, autosomal recessive (OMIM #618317), primary familial brain calcifications (PFBC), ataxia, dysarthria, cerebellar atrophy, akinetic-hypertonic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.53 CACNA1A Bryony Thompson Tag STR tag was added to gene: CACNA1A.
Ataxia - paediatric v0.212 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Ataxia - paediatric v0.212 CACNA1A Bryony Thompson Added comment: Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing.
Ataxia - paediatric v0.212 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.211 CACNA1A Bryony Thompson Tag STR tag was added to gene: CACNA1A.
Ataxia - adult onset v0.53 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Ataxia - adult onset v0.53 CACNA1A Bryony Thompson Added comment: Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing.
Ataxia - adult onset v0.53 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark edited their review of gene: SPEF2: Changed phenotypes: Spermatogenic failure 43, MIM#618751, Primary ciliary dyskinesia-like phenotype
Mitochondrial disease v0.438 GMPR Zornitza Stark Marked gene: GMPR as ready
Mitochondrial disease v0.438 GMPR Zornitza Stark Gene: gmpr has been classified as Red List (Low Evidence).
Mendeliome v0.2602 CACNB4 Zornitza Stark changed review comment from: One multigenerational family and supportive animal model data.; to: One multigenerational family with ataxia and supportive animal model data.
Mendeliome v0.2602 CACNB4 Zornitza Stark edited their review of gene: CACNB4: Added comment: PMID 32176688: A homozygous missense variant (Leu126Pro) reported in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. Some functional data.; Changed publications: 10762541, 9628818, 27003325, 32176688; Changed phenotypes: Episodic ataxia, type 5, MIM#613855, Intellectual disability, Epilepsy, Movement disorder
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2589 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 32100459
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500; Microcephaly; Intellectual disability
Review for gene: CEP55 was set to GREEN
Added comment: Homozygous nonsense variants in CEP55 are associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. New report of seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all had a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings were homozygous for a consensus splice site variant near the end of the gene. These affected girls all had severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. This series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype.
Sources: Literature
Microcephaly v0.120 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Microcephaly v0.120 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Microcephaly v0.120 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Microcephaly v0.120 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Microcephaly v0.119 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 32100459
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500; Microcephaly; Intellectual disability
Review for gene: CEP55 was set to GREEN
Added comment: Homozygous nonsense variants in CEP55 are associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. New report of seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all had a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings were homozygous for a consensus splice site variant near the end of the gene. These affected girls all had severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. This series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype.
Sources: Literature
Cholestasis v0.16 WDR83OS Zornitza Stark Marked gene: WDR83OS as ready
Cholestasis v0.16 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Cholestasis v0.16 WDR83OS Zornitza Stark gene: WDR83OS was added
gene: WDR83OS was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR83OS were set to 30250217
Phenotypes for gene: WDR83OS were set to Cholestasis
Review for gene: WDR83OS was set to RED
Added comment: - 1 consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS - The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR
Sources: Literature
Mendeliome v0.2602 WDR83OS Zornitza Stark Marked gene: WDR83OS as ready
Mendeliome v0.2602 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Mendeliome v0.2602 WDR83OS Zornitza Stark Publications for gene: WDR83OS were set to PMID: 30250217
Mendeliome v0.2601 WDR83OS Zornitza Stark Classified gene: WDR83OS as Red List (low evidence)
Mendeliome v0.2601 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.8 Bryony Thompson Panel name changed from Fatty Oxidation Defects to Fatty Acid Oxidation Defects
Fatty Acid Oxidation Defects v0.7 ACADSB Bryony Thompson gene: ACADSB was added
gene: ACADSB was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 11013134; 17945527; 30730842
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006
Review for gene: ACADSB was set to GREEN
Added comment: The enzyme catalyses the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. SBCAD deficiency is symptomatic in about 10% of reported patients.
Sources: Expert list
Fatty Acid Oxidation Defects v0.6 OXCT1 Bryony Thompson Classified gene: OXCT1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.6 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.5 OXCT1 Bryony Thompson gene: OXCT1 was added
gene: OXCT1 was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Review for gene: OXCT1 was set to GREEN
Added comment: The enzyme catalyses the first step of ketone body utilization, ketone bodies are produced predominantly in the liver from fatty acid oxidation-derived acetyl-coenzyme A (CoA), and they are transported to extrahepatic tissues for terminal oxidation. At least 4 cases reported with the condition.
Sources: Expert list
Fatty Acid Oxidation Defects v0.4 ACAT1 Bryony Thompson Classified gene: ACAT1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.4 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.3 ACAT1 Bryony Thompson gene: ACAT1 was added
gene: ACAT1 was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 17236799; 1715688
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase
Review for gene: ACAT1 was set to GREEN
Added comment: Is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Biallelic variants have been identified in at least 7 families.
Sources: Expert list
Cholestasis v0.15 LSR Zornitza Stark Marked gene: LSR as ready
Cholestasis v0.15 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.15 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Cholestasis v0.15 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.14 LSR Zornitza Stark gene: LSR was added
gene: LSR was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSR were set to 32303357; 30250217
Phenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature
Review for gene: LSR was set to AMBER
Added comment: Two families reported.
Sources: Literature
Mendeliome v0.2600 LSR Zornitza Stark Marked gene: LSR as ready
Mendeliome v0.2600 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2600 LSR Zornitza Stark Publications for gene: LSR were set to PMID: 30250217
Mendeliome v0.2599 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Mendeliome v0.2599 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2598 WDR83OS Ee Ming Wong gene: WDR83OS was added
gene: WDR83OS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR83OS were set to PMID: 30250217
Phenotypes for gene: WDR83OS were set to Cholestasis
Review for gene: WDR83OS was set to RED
Added comment: - 1 consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS
- The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR
Sources: Literature
Mendeliome v0.2598 LSR Zornitza Stark reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32303357, 30250217; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2598 LSR Zornitza Stark Deleted their review
Mendeliome v0.2598 LSR Zornitza Stark Classified gene: LSR as Green List (high evidence)
Mendeliome v0.2598 LSR Zornitza Stark Gene: lsr has been classified as Green List (High Evidence).
Mendeliome v0.2597 LSR Zornitza Stark reviewed gene: LSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32303357; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2597 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Mendeliome v0.2597 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.13 USP53 Zornitza Stark Marked gene: USP53 as ready
Cholestasis v0.13 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Cholestasis v0.13 USP53 Zornitza Stark Classified gene: USP53 as Green List (high evidence)
Cholestasis v0.13 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Cholestasis v0.12 USP53 Zornitza Stark gene: USP53 was added
gene: USP53 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to 30250217; 32124521
Phenotypes for gene: USP53 were set to Cholestasis; deafness
Review for gene: USP53 was set to GREEN
Added comment: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature
Mendeliome v0.2596 USP53 Zornitza Stark Publications for gene: USP53 were set to PMID: 30250217
Mendeliome v0.2595 LSR Ee Ming Wong reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32303357, 30250217; Phenotypes: Intrahepatic cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2595 USP53 Zornitza Stark Marked gene: USP53 as ready
Mendeliome v0.2595 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Mendeliome v0.2595 USP53 Zornitza Stark Phenotypes for gene: USP53 were changed from Deafness to Cholestasis; deafness
Mendeliome v0.2594 USP53 Zornitza Stark Classified gene: USP53 as Green List (high evidence)
Mendeliome v0.2594 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Mendeliome v0.2593 USP53 Zornitza Stark reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 32124521; Phenotypes: Cholestasis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2593 LSR Ee Ming Wong Deleted their review
Mendeliome v0.2593 USP53 Zornitza Stark Classified gene: USP53 as Red List (low evidence)
Mendeliome v0.2593 USP53 Zornitza Stark Gene: usp53 has been classified as Red List (Low Evidence).
Mendeliome v0.2592 LSR Ee Ming Wong gene: LSR was added
gene: LSR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSR were set to PMID: 30250217
Phenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature
Review for gene: LSR was set to RED
Added comment: 1 individual from 1 consanguineous family carrying a homozygous missense variant in LSR
Sources: Literature
Cholestasis v0.11 PPM1F Zornitza Stark Marked gene: PPM1F as ready
Cholestasis v0.11 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Cholestasis v0.11 PPM1F Zornitza Stark gene: PPM1F was added
gene: PPM1F was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1F were set to 30250217
Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentatio
Review for gene: PPM1F was set to RED
Added comment: One consanguineous family reported.
Sources: Literature
Mendeliome v0.2592 PPM1F Zornitza Stark Marked gene: PPM1F as ready
Mendeliome v0.2592 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Mendeliome v0.2592 PPM1F Zornitza Stark Classified gene: PPM1F as Red List (low evidence)
Mendeliome v0.2592 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Mendeliome v0.2591 USP53 Ee Ming Wong gene: USP53 was added
gene: USP53 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to PMID: 30250217
Phenotypes for gene: USP53 were set to Deafness
Review for gene: USP53 was set to RED
Added comment: 1 consanguineous family carrying a homozygous truncating variant in USP53
Sources: Literature
Mendeliome v0.2591 PPM1F Ee Ming Wong gene: PPM1F was added
gene: PPM1F was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1F were set to PMID: 30250217
Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentation
Review for gene: PPM1F was set to RED
Added comment: 1 consanguineous family found to carry a homozygous missense variant in PPM1F
Sources: Literature
Fatty Acid Oxidation Defects v0.2 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Aortopathy_Connective Tissue Disorders v0.24 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Glycogen Storage Diseases v0.4 RBCK1 Bryony Thompson Classified gene: RBCK1 as Green List (high evidence)
Glycogen Storage Diseases v0.4 RBCK1 Bryony Thompson Gene: rbck1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.3 RBCK1 Bryony Thompson gene: RBCK1 was added
gene: RBCK1 was added to Glycogen Storage Diseases. Sources: Expert list
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to 23798481; 23104095
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895
Review for gene: RBCK1 was set to GREEN
Added comment: Biallelic variants cause polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy, which is characterised as a glycogen storage disorder. At least 9 families reported.
Sources: Expert list
Glycogen Storage Diseases v0.2 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Stroke v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Stroke v0.0 NOS3 Bryony Thompson gene: NOS3 was added
gene: NOS3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOS3 was set to Unknown
Stroke v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4
Stroke v0.0 MUT Bryony Thompson gene: MUT was added
gene: MUT was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Stroke v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease
Stroke v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were set to Periventricular nodular heterotopia 1
Stroke v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Diabetes mellitus AND insipidus with optic atrophy AND deafness
Stroke v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Amyloidogenic transthyretin amyloidosis
Stroke v0.0 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TREX1 were set to Vasculopathy, retinal, with cerebral leukodystrophy
Stroke v0.0 STIM1 Bryony Thompson gene: STIM1 was added
gene: STIM1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STIM1 were set to Stormorken syndrome
Stroke v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Stroke v0.0 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to 208050; Moyamoya disease; Arterial tortuosity syndrome
Stroke v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stroke v0.0 OTC Bryony Thompson gene: OTC was added
gene: OTC was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine carbamoyltransferase deficiency
Stroke v0.0 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH3 were set to Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Stroke v0.0 HTRA1 Bryony Thompson gene: HTRA1 was added
gene: HTRA1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Stroke v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300
Stroke v0.0 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CST3 were set to Hereditary cerebral amyloid angiopathy, Icelandic type
Stroke v0.0 COL4A1 Bryony Thompson gene: COL4A1 was added
gene: COL4A1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A1 were set to Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage
Stroke v0.0 ASS1 Bryony Thompson gene: ASS1 was added
gene: ASS1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia type
Stroke v0.0 APP Bryony Thompson gene: APP was added
gene: APP was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related
Stroke v0.0 ADA2 Bryony Thompson gene: ADA2 was added
gene: ADA2 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa; Sneddon syndrome 182410
Stroke v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Stroke v0.0 ACAD9 Bryony Thompson gene: ACAD9 was added
gene: ACAD9 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Acyl-CoA dehydrogenase family, member 9, deficiency of
Stroke v0.0 ABCC6 Bryony Thompson gene: ABCC6 was added
gene: ABCC6 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum, forme fruste
Stroke v0.0 Bryony Thompson Added panel Stroke
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Gene: spef2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Ciliary Dyskinesia v0.31 SPEF2 Zornitza Stark Classified gene: SPEF2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.31 SPEF2 Zornitza Stark Gene: spef2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.30 SPEF2 Zornitza Stark gene: SPEF2 was added
gene: SPEF2 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to AMBER
Added comment: 4 families reported with bi-allelic variants and sperm morphological abnormalities plus recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype. Morphological abnormalities of the respiratory cilia were not observed. Mouse model recapitulated the infertility phenotype but also had hydrocephalus and sinusitis, again arguing for broader impact on ciliary function. Note other reports of individuals with bi-allelic variants and no respiratory phenotype reported. Given respiratory phenotype is milder and currently it is unclear in what proportion of individuals it is present, Amber rating on this panel for now.
Sources: Literature
Mendeliome v0.2591 SPEF2 Zornitza Stark Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751 to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Mendeliome v0.2590 SPEF2 Zornitza Stark Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344
Mendeliome v0.2589 SPEF2 Zornitza Stark reviewed gene: SPEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942643; Phenotypes: Spermatogenic failure 43, MIM#618751, Primary ciliary dyskinesia-like phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.58 KLC2 Zornitza Stark Marked gene: KLC2 as ready
Hereditary Neuropathy - complex v0.58 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.58 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Hereditary Neuropathy - complex v0.58 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.57 KLC2 Zornitza Stark reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia, optic atrophy, and neuropathy MIM#609541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.82 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v0.82 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.81 KLC2 Zornitza Stark reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2589 KLC2 Zornitza Stark Marked gene: KLC2 as ready
Mendeliome v0.2589 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Mendeliome v0.2589 KLC2 Zornitza Stark Tag SV/CNV tag was added to gene: KLC2.
Mendeliome v0.2589 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Mendeliome v0.2589 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Mendeliome v0.2588 KLC2 Zornitza Stark gene: KLC2 was added
gene: KLC2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to GREEN
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing.
Sources: Expert Review
Cholestasis v0.10 KIF12 Zornitza Stark Marked gene: KIF12 as ready
Cholestasis v0.10 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Cholestasis v0.10 KIF12 Zornitza Stark Classified gene: KIF12 as Green List (high evidence)
Cholestasis v0.10 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Cholestasis v0.9 KIF12 Zornitza Stark gene: KIF12 was added
gene: KIF12 was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF12 were set to 30250217; 30976738
Phenotypes for gene: KIF12 were set to Cholestasis; High Gamma-Glutamyltransferase (GGT)
Review for gene: KIF12 was set to GREEN
Added comment: Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense.
Sources: Expert list
Mendeliome v0.2587 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Prenatal cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis; High Gamma-Glutamyltransferase (GGT)
Mendeliome v0.2586 KIF12 Zornitza Stark Marked gene: KIF12 as ready
Mendeliome v0.2586 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Mendeliome v0.2586 KIF12 Zornitza Stark Publications for gene: KIF12 were set to PMID: 30250217; 30976738
Mendeliome v0.2585 KIF12 Zornitza Stark Classified gene: KIF12 as Green List (high evidence)
Mendeliome v0.2585 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Mendeliome v0.2584 KIF12 Zornitza Stark reviewed gene: KIF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250217, 30976738; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.27 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dopa-responsive dystonia, exercise-induced dystonia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Marked gene: PNKD as ready
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
Paroxysmal Dyskinesia v0.26 PNKD Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.25 PNKD Zornitza Stark reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Phenotypes for gene: ECHS1 were changed from early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)
Paroxysmal Dyskinesia v0.24 ECHS1 Zornitza Stark Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27090768, 28039521; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277, paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy. to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Paroxysmal dyskinesia (exercise induced or without clear trigger
Paroxysmal Dyskinesia v0.21 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328)
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20002125, 22079328; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170, Paroxysmal dyskinesia (exercise induced or without clear trigger; Mode of inheritance: Other
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark Classified gene: PDHA1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Marked gene: PDHX as ready
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from to Lactic acidemia due to PDX1 deficiency, MIM# 245349; episodic dystonia; Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features)
Paroxysmal Dyskinesia v0.18 PDHX Zornitza Stark Publications for gene: PDHX were set to
Paroxysmal Dyskinesia v0.17 PDHX Zornitza Stark Mode of inheritance for gene: PDHX was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.16 PDHX Zornitza Stark Classified gene: PDHX as Green List (high evidence)
Paroxysmal Dyskinesia v0.16 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark commented on gene: PDHX: Paroxysmal dystonia secondary to basal ganglia lesions
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark edited their review of gene: PDHX: Changed publications: 16566017, 20002125
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16566017; Phenotypes: Lactic acidemia due to PDX1 deficiency, MIM# 245349, episodic dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Marked gene: DLAT as ready
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency, MIM# 245348; Episodic dystonia (Exercise induced or without clear trigger)
Paroxysmal Dyskinesia v0.14 DLAT Zornitza Stark Publications for gene: DLAT were set to
Paroxysmal Dyskinesia v0.13 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
Paroxysmal Dyskinesia v0.13 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.12 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20022530, 29093066; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM# 245348, Episodic dystonia (Exercise induced or without clear trigger); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from Dopa-responsive dystonia; exercise-induced dystonia to Dopa-responsive dystonia; exercise-induced dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
Paroxysmal Dyskinesia v0.11 GCH1 Zornitza Stark Classified gene: GCH1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.11 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Marked gene: ALPK1 as ready
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Classified gene: ALPK1 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.68 ALPK1 Zornitza Stark gene: ALPK1 was added
gene: ALPK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 31053777
Phenotypes for gene: ALPK1 were set to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Review for gene: ALPK1 was set to AMBER
Added comment: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Marked gene: CSGALNACT1 as ready
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Mendeliome v0.2584 ALPK1 Zornitza Stark Marked gene: ALPK1 as ready
Mendeliome v0.2584 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2584 ALPK1 Zornitza Stark Classified gene: ALPK1 as Amber List (moderate evidence)
Mendeliome v0.2584 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2583 ALPK1 Zornitza Stark gene: ALPK1 was added
gene: ALPK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 31053777
Phenotypes for gene: ALPK1 were set to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Review for gene: ALPK1 was set to AMBER
Added comment: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan edited their review of gene: GCH1: Changed phenotypes: Dopa-responsive dystonia, exercise-induced dystonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Classified gene: LRRC32 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2587 LRRC32 Zornitza Stark gene: LRRC32 was added
gene: LRRC32 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to 30976112
Phenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Mendeliome v0.2582 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Mendeliome v0.2582 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2582 LRRC32 Zornitza Stark Classified gene: LRRC32 as Amber List (moderate evidence)
Mendeliome v0.2582 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2581 LRRC32 Zornitza Stark gene: LRRC32 was added
gene: LRRC32 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to 30976112
Phenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Mendeliome v0.2580 KIF12 Ee Ming Wong gene: KIF12 was added
gene: KIF12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF12 were set to PMID: 30250217; 30976738
Phenotypes for gene: KIF12 were set to Prenatal cholestasis; High Gamma-Glutamyltransferase (GGT)
Review for gene: KIF12 was set to AMBER
gene: KIF12 was marked as current diagnostic
Added comment: > 3 unrelated families,but they are all consanguineous families
Sources: Literature
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan commented on gene: GCH1
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan gene: GCH1 was added
gene: GCH1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dopa-responsive dystonia; exercise-induced dystonia
Aortopathy_Connective Tissue Disorders v0.23 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Aortopathy_Connective Tissue Disorders v0.23 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.23 SMAD4 Zornitza Stark Classified gene: SMAD4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.23 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.22 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 30809044
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm
Review for gene: SMAD4 was set to GREEN
Added comment: SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40% of affected individuals also have thoracic aortic disease. Three individuals recently reported with rare/novel missense and isolated thoracic aortic aneurysm.
Sources: Literature
Paroxysmal Dyskinesia v0.10 DLAT Eunice Chan edited their review of gene: DLAT: Changed publications: McWilliam et al. 2010. Eur J Paediatr Neurol 14(4):349-53 (PMID: 2002, 2530), Friedman J et al. 2017. Neurology 89: 2297-2298 (PMID:; Changed phenotypes: Episodic dystonia (Exercise induced or without clear trigger)
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan commented on gene: PDHX: PDX1 deficiency
Paroxysmal Dyskinesia v0.10 DLAT Eunice Chan gene: DLAT was added
gene: DLAT was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Also known as pyruvate dehydrogenase E2 deficiency
Sources: Literature
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan reviewed gene: PDHX: Rating: ; Mode of pathogenicity: None; Publications: Schiff et al 2006 Ann Neurol 59(4):709-14 (PMID: 1656, 6017); Phenotypes: Paroxysmal dyskinesia (exercise induced or without clear trigger, isolated or with additional features), mitochondrial disorder (Leigh syndrome, ataxia), neurodevelopmental disability, epilepsy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.25 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Bardet Biedl syndrome. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 30723319; 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome
Review for gene: SCAPER was set to GREEN
Added comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.
Sources: Literature
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan gene: PDHX was added
gene: PDHX was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: PDHX was set to Other
Paroxysmal Dyskinesia v0.10 PDHA1 Eunice Chan gene: PDHA1 was added
gene: PDHA1 was added to Paroxysmal Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: PDHA1 was set to Other
Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328)
Phenotypes for gene: PDHA1 were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy.
Added comment: Phenotype can be quite broad
XLR inheritance - phenotype in females dependent on X-chromosome inactivation patterns

May respond to thiamine supplementation
Sources: Expert Review
Mendeliome v0.2580 CSGALNACT1 Zornitza Stark Publications for gene: CSGALNACT1 were set to
Mendeliome v0.2579 CSGALNACT1 Zornitza Stark reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31705726, 31325655; Phenotypes: Congenital disorder of glycosylation, skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Classified gene: CSGALNACT1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.45 CSGALNACT1 Zornitza Stark gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Congenital disorder of glycosylation; skeletal dysplasia
Review for gene: CSGALNACT1 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.2579 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from Spastic paraplegia 80, autosomal dominant 618418 to Childhood-onset hereditary spastic paraplegia; Spastic paraplegia 80, autosomal dominant 618418
Mendeliome v0.2578 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to 31203368
Mendeliome v0.2577 UBAP1 Zornitza Stark reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31696996; Phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.10 ECHS1 Eunice Chan gene: ECHS1 was added
gene: ECHS1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)
Phenotypes for gene: ECHS1 were set to early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)
Added comment: PxD phenotype
- intermittent episodes of long-duration dystonia or episodes of dystonia induced by sustained exercise
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v0.81 UBAP1 Zornitza Stark Marked gene: UBAP1 as ready
Hereditary Spastic Paraplegia - paediatric v0.81 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.81 UBAP1 Zornitza Stark Classified gene: UBAP1 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v0.81 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.80 UBAP1 Zornitza Stark gene: UBAP1 was added
gene: UBAP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBAP1 were set to 31696996
Phenotypes for gene: UBAP1 were set to Childhood-onset hereditary spastic paraplegia; Spastic paraplegia 80, autosomal dominant 618418
Mode of pathogenicity for gene: UBAP1 was set to Other
Review for gene: UBAP1 was set to GREEN
Added comment: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.
Sources: Literature
Paroxysmal Dyskinesia v0.10 PNKD Eunice Chan commented on gene: PNKD
Mendeliome v0.2577 RHOA Zornitza Stark Phenotypes for gene: RHOA were changed from normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia; dental anomalies; body asymmetry; limb length discrepancy
Mendeliome v0.2576 RHOA Zornitza Stark Publications for gene: RHOA were set to 31570889
Mendeliome v0.2575 RHOA Zornitza Stark reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31821646; Phenotypes: hypopigmented areas of the skin, dental anomalies, body asymmetry, limb length discrepancy, MRI abnormalities; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.2586 NTNG2 Zornitza Stark edited their review of gene: NTNG2: Changed phenotypes: Intellectual disability, autism, dysmorphic features, Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.2586 NTNG2 Zornitza Stark Publications for gene: NTNG2 were set to 31668703
Intellectual disability syndromic and non-syndromic v0.2585 NTNG2 Zornitza Stark edited their review of gene: NTNG2: Added comment: Two more families reported, phenotype described as Rett-like. Both families had same homozygous frameshift mutation (chr9:135073515, c.376dupT, p.(Ser126PhefsTer241).; Changed publications: 31668703, 31692205
Intellectual disability syndromic and non-syndromic v0.2585 TAF1 Zornitza Stark Marked gene: TAF1 as ready
Intellectual disability syndromic and non-syndromic v0.2585 TAF1 Zornitza Stark Gene: taf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2585 TAF1 Zornitza Stark Phenotypes for gene: TAF1 were changed from to Mental retardation, X-linked, syndromic 33, MIM# 300966
Intellectual disability syndromic and non-syndromic v0.2584 TAF1 Zornitza Stark Publications for gene: TAF1 were set to
Intellectual disability syndromic and non-syndromic v0.2583 TAF1 Zornitza Stark Mode of inheritance for gene: TAF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2582 TAF1 Zornitza Stark reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31646703; Phenotypes: Mental retardation, X-linked, syndromic 33, MIM# 300966; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.683 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Genetic Epilepsy v0.683 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.683 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403
Genetic Epilepsy v0.682 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.681 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 2 604403, Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208, Febrile seizures, familial, 3A 604403; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2575 IQCE Zornitza Stark Marked gene: IQCE as ready
Mendeliome v0.2575 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Mendeliome v0.2575 IQCE Zornitza Stark Classified gene: IQCE as Green List (high evidence)
Mendeliome v0.2575 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Mendeliome v0.2574 IQCE Zornitza Stark gene: IQCE was added
gene: IQCE was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 31549751; 28488682
Phenotypes for gene: IQCE were set to Postaxial polydactyly
Review for gene: IQCE was set to GREEN
Added comment: Four families reported with bi-allelic variants in this gene. The c.895_904del (p.Val301Serfs*8) was found in three of the families without sharing a common haplotype, suggesting a recurrent mechanism. RNA expression analysis on patients’ fibroblasts showed that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog‐signaling pathway, and zebrafish experiments demonstrated a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left–right asymmetry, misdirected cilia in the pronephric duct, and retinal defects.
Sources: Literature
Polydactyly v0.21 IQCE Zornitza Stark Marked gene: IQCE as ready
Polydactyly v0.21 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Polydactyly v0.21 IQCE Zornitza Stark Classified gene: IQCE as Green List (high evidence)
Polydactyly v0.21 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Polydactyly v0.20 IQCE Zornitza Stark gene: IQCE was added
gene: IQCE was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 31549751; 28488682
Phenotypes for gene: IQCE were set to Postaxial polydactyly
Review for gene: IQCE was set to GREEN
Added comment: Four families reported with bi-allelic variants in this gene. The c.895_904del (p.Val301Serfs*8) was found in three of the families without sharing a common haplotype, suggesting a recurrent mechanism. RNA expression analysis on patients’ fibroblasts showed that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog‐signaling pathway, and zebrafish experiments demonstrated a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left–right asymmetry, misdirected cilia in the pronephric duct, and retinal defects.
Sources: Literature
Mendeliome v0.2573 NKX2-3 Zornitza Stark Marked gene: NKX2-3 as ready
Mendeliome v0.2573 NKX2-3 Zornitza Stark Gene: nkx2-3 has been classified as Red List (Low Evidence).
Mendeliome v0.2573 NKX2-3 Zornitza Stark gene: NKX2-3 was added
gene: NKX2-3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NKX2-3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-3 were set to 31498527
Phenotypes for gene: NKX2-3 were set to Intestinal varicosities
Review for gene: NKX2-3 was set to RED
Added comment: Single multiplex family where truncating variant in this gene segregated with intestinal varicosities with a LOD score of 3.3. NKX2‐3 is a component of a molecular pathway underlying spleen and gut vasculature development in mice.
Sources: Literature
Mendeliome v0.2572 RPSA Zornitza Stark changed review comment from: Four families reported with mono allelic variants and idiopathic intestinal varies.; to: Four families reported with mono allelic variants and idiopathic intestinal varies, often in combination with asplenia.
Mendeliome v0.2572 RPSA Zornitza Stark Marked gene: RPSA as ready
Mendeliome v0.2572 RPSA Zornitza Stark Gene: rpsa has been classified as Green List (High Evidence).
Mendeliome v0.2572 RPSA Zornitza Stark Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital 271400; Idiopathic intestinal varices
Mendeliome v0.2571 RPSA Zornitza Stark Publications for gene: RPSA were set to
Mendeliome v0.2570 RPSA Zornitza Stark Mode of inheritance for gene: RPSA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2569 RPSA Zornitza Stark reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579497, 31498527; Phenotypes: Asplenia, isolated congenital 271400, Idiopathic intestinal varices; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2569 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from to Skeletal dysplasia; spondylocostal dysostosis; congenital scoliosis
Mendeliome v0.2568 TBX6 Zornitza Stark Publications for gene: TBX6 were set to
Mitochondrial disease v0.438 CRAT Zornitza Stark Marked gene: CRAT as ready
Mitochondrial disease v0.438 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.438 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Mitochondrial disease v0.438 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.437 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Regression v0.116 CRAT Zornitza Stark Marked gene: CRAT as ready
Regression v0.116 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Regression v0.116 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Regression v0.116 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Regression v0.115 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Regression. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Mendeliome v0.2567 CRAT Zornitza Stark Marked gene: CRAT as ready
Mendeliome v0.2567 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2567 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Mendeliome v0.2567 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2566 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Genetic Epilepsy v0.681 KCNB1 Zornitza Stark Marked gene: KCNB1 as ready
Genetic Epilepsy v0.681 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.681 KCNB1 Zornitza Stark Phenotypes for gene: KCNB1 were changed from to Epileptic encephalopathy, early infantile, 26, MIM# 616056
Genetic Epilepsy v0.680 KCNB1 Zornitza Stark Publications for gene: KCNB1 were set to
Genetic Epilepsy v0.679 KCNB1 Zornitza Stark Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.678 KCNB1 Zornitza Stark reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2582 KCNB1 Zornitza Stark Marked gene: KCNB1 as ready
Intellectual disability syndromic and non-syndromic v0.2582 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2582 KCNB1 Zornitza Stark Phenotypes for gene: KCNB1 were changed from to Epileptic encephalopathy, early infantile, 26, MIM# 616056
Intellectual disability syndromic and non-syndromic v0.2581 KCNB1 Zornitza Stark Publications for gene: KCNB1 were set to
Intellectual disability syndromic and non-syndromic v0.2580 KCNB1 Zornitza Stark Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2579 KCNB1 Zornitza Stark reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.105 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Optic Atrophy v0.104 KLC2 Bryony Thompson Marked gene: KLC2 as ready
Optic Atrophy v0.104 KLC2 Bryony Thompson Gene: klc2 has been classified as Green List (High Evidence).
Optic Atrophy v0.104 KLC2 Bryony Thompson Classified gene: KLC2 as Green List (high evidence)
Optic Atrophy v0.104 KLC2 Bryony Thompson Added comment: Comment on list classification: Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing.
Optic Atrophy v0.104 KLC2 Bryony Thompson Gene: klc2 has been classified as Green List (High Evidence).
Optic Atrophy v0.103 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Optic Atrophy. Sources: Literature
SV/CNV tags were added to gene: KLC2.
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to GREEN
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Optic atrophy is a feature of the condition.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Marked gene: BCL11A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Gene: bcl11a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101
Cerebellar and Pontocerebellar Hypoplasia v0.52 BCL11A Zornitza Stark Publications for gene: BCL11A were set to
Cerebellar and Pontocerebellar Hypoplasia v0.51 BCL11A Zornitza Stark Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Marked gene: TUBB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Gene: tubb has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Classified gene: TUBB as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Gene: tubb has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Classified gene: CACNA1G as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862)
Cerebellar and Pontocerebellar Hypoplasia v0.47 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to
Cerebellar and Pontocerebellar Hypoplasia v0.46 TRAPPC6B Zornitza Stark Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.45 TRAPPC6B Zornitza Stark Classified gene: TRAPPC6B as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.45 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Phenotypes for gene: CEP55 were changed from to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500
Cerebellar and Pontocerebellar Hypoplasia v0.43 CEP55 Zornitza Stark Publications for gene: CEP55 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.42 CEP55 Zornitza Stark Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.41 CEP55 Zornitza Stark Classified gene: CEP55 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.41 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Classified gene: TMEM5 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Classified gene: TINF2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Mendeliome v0.2565 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Mendeliome v0.2565 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Mendeliome v0.2565 CWF19L1 Zornitza Stark Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay
Mendeliome v0.2564 CWF19L1 Zornitza Stark Publications for gene: CWF19L1 were set to
Mendeliome v0.2563 CWF19L1 Zornitza Stark Mode of inheritance for gene: CWF19L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2562 CWF19L1 Zornitza Stark reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361784, 15981765, 26197978, 27016154, 30167849; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, MIM#616127, intellectual disability, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Gene: ahi1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Polymicrogyria and Schizencephaly v0.40 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Polymicrogyria and Schizencephaly v0.39 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.38 AHI1 Zornitza Stark Classified gene: AHI1 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.38 AHI1 Zornitza Stark Gene: ahi1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from to Polymicrogyria; hypoplastic corpus callosum
Polymicrogyria and Schizencephaly v0.36 ASTN1 Zornitza Stark Publications for gene: ASTN1 were set to
Polymicrogyria and Schizencephaly v0.35 ASTN1 Zornitza Stark Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.34 ASTN1 Zornitza Stark Classified gene: ASTN1 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.34 ASTN1 Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.11 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.11 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Mendeliome v0.2562 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Mendeliome v0.2562 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Mendeliome v0.2561 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Mendeliome v0.2561 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Callosome v0.134 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN
Callosome v0.134 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Callosome v0.134 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401; 23359570; 23217742
Arthrogryposis v0.46 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Arthrogryposis v0.45 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Arthrogryposis v0.45 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Arthrogryposis v0.44 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families and two animal models.
Callosome v0.133 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401; 23359570; 23217742
Arthrogryposis v0.44 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Callosome v0.132 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Callosome v0.132 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Callosome v0.132 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.33 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359570, 23877401, 23359570, 23217742; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.131 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Callosome v0.131 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Callosome v0.131 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Callosome v0.130 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Callosome v0.129 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.128 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Callosome v0.128 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Callosome v0.127 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.9 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Muscular dystrophy and myopathy_Paediatric v0.8 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.7 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.7 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Muscular dystrophy and myopathy_Paediatric v0.6 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2561 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Mendeliome v0.2561 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2561 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Mendeliome v0.2560 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Mendeliome v0.2559 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2558 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Mendeliome v0.2558 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2557 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.43 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Arthrogryposis v0.42 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.41 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Arthrogryposis v0.41 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.40 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.33 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Lissencephaly and Band Heterotopia v0.32 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Lissencephaly and Band Heterotopia v0.31 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.30 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.30 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.7 BRAF Zornitza Stark Marked gene: BRAF as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.7 BRAF Zornitza Stark Gene: braf has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.7 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to RASopathies; Focal cortical dysplasia
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.6 BRAF Zornitza Stark Publications for gene: BRAF were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.5 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.4 BRAF Zornitza Stark Classified gene: BRAF as Amber List (moderate evidence)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.4 BRAF Zornitza Stark Gene: braf has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.3 BRAF Zornitza Stark Tag somatic tag was added to gene: BRAF.
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.3 BRAF Zornitza Stark reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: None; Publications: 25356392; Phenotypes: Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2557 RSRC1 Zornitza Stark Classified gene: RSRC1 as Green List (high evidence)
Mendeliome v0.2557 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.3 BRAF Lauren Akesson reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18039946, 18039235; Phenotypes: RASopathies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2556 THG1L Zornitza Stark changed review comment from: Five individuals from two Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA.
Sources: Literature; to: Four Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA. A carrier rate of 0.8%, but no THG1L V55A homozygotes, was found in a cohort of 3,232 unrelated Ashkenazi Jewish individuals, and no homozygotes found in Exac or gnomAD.
Sources: Literature
Mendeliome v0.2556 THG1L Zornitza Stark edited their review of gene: THG1L: Changed rating: GREEN; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Mendeliome v0.2556 THG1L Zornitza Stark Marked gene: THG1L as ready
Mendeliome v0.2556 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Mendeliome v0.2556 THG1L Zornitza Stark Classified gene: THG1L as Green List (high evidence)
Mendeliome v0.2556 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Mendeliome v0.2555 THG1L Zornitza Stark Classified gene: THG1L as Amber List (moderate evidence)
Mendeliome v0.2555 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2554 THG1L Zornitza Stark gene: THG1L was added
gene: THG1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THG1L were set to 27307223; 31168944; 30214071
Phenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Review for gene: THG1L was set to AMBER
Added comment: Five individuals from two Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA.
Sources: Literature
Mendeliome v0.2553 TRPV1 Zornitza Stark Marked gene: TRPV1 as ready
Mendeliome v0.2553 TRPV1 Zornitza Stark Gene: trpv1 has been classified as Red List (Low Evidence).
Mendeliome v0.2553 TRPV1 Zornitza Stark gene: TRPV1 was added
gene: TRPV1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV1 were set to 29930394
Phenotypes for gene: TRPV1 were set to Susceptibility to malignant hyperthermia
Review for gene: TRPV1 was set to RED
Added comment: Two individuals reported with rare/novel missense variants in this gene, some functional data.
Sources: Literature
Mendeliome v0.2552 ZP2 Zornitza Stark Marked gene: ZP2 as ready
Mendeliome v0.2552 ZP2 Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence).
Mendeliome v0.2552 ZP2 Zornitza Stark Classified gene: ZP2 as Green List (high evidence)
Mendeliome v0.2552 ZP2 Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence).
Mendeliome v0.2551 ZP2 Zornitza Stark gene: ZP2 was added
gene: ZP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZP2 were set to 30810869; 29895852
Phenotypes for gene: ZP2 were set to Female infertility
Review for gene: ZP2 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida.
Sources: Literature
Mendeliome v0.2550 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Intellectual disability syndromic and non-syndromic v0.2579 RSRC1 Zornitza Stark Classified gene: RSRC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2579 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2578 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 2020: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Marked gene: GAD1 as ready
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Mendeliome v0.2550 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Mendeliome v0.2550 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.677 GAD1 Zornitza Stark gene: GAD1 was added
gene: GAD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAD1 were set to 32282878
Phenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathy
Review for gene: GAD1 was set to GREEN
Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.
Sources: Literature
Mendeliome v0.2549 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Mendeliome v0.2549 GAD1 Zornitza Stark edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed rating: GREEN; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy
Intellectual disability syndromic and non-syndromic v0.2578 GAD1 Zornitza Stark Publications for gene: GAD1 were set to 15571623
Intellectual disability syndromic and non-syndromic v0.2577 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513 to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy
Intellectual disability syndromic and non-syndromic v0.2576 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2576 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.675 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2574 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Congenital Disorders of Glycosylation v0.43 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Mendeliome v0.2549 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Mendeliome v0.2549 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Mendeliome v0.2548 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Early-onset Dementia v0.48 CYLD Zornitza Stark Marked gene: CYLD as ready
Early-onset Dementia v0.48 CYLD Zornitza Stark Gene: cyld has been classified as Red List (Low Evidence).
Early-onset Dementia v0.48 CYLD Zornitza Stark gene: CYLD was added
gene: CYLD was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYLD were set to 32185393
Phenotypes for gene: CYLD were set to Frontotemporal dementia; Amyotrophic lateral sclerosis
Review for gene: CYLD was set to RED
Added comment: Recent report of a missense variant segregating in 1 family with frontotemporal dementia and amyotrophic lateral sclerosis. Functional studies showed that the variant resulted in a gain of ubiquitinase function, opposite from the mechanism causing the well-documented cutaneous phenotypes
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Microcephaly v0.118 C7orf43 Zornitza Stark Marked gene: C7orf43 as ready
Microcephaly v0.118 C7orf43 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: MAP11
Microcephaly v0.118 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.118 C7orf43 Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence)
Microcephaly v0.118 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2547 C7orf43 Zornitza Stark Marked gene: C7orf43 as ready
Mendeliome v0.2547 C7orf43 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: MAP11
Mendeliome v0.2547 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.117 C7orf43 Zornitza Stark gene: C7orf43 was added
gene: C7orf43 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C7orf43 were set to 30715179
Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351
Review for gene: C7orf43 was set to AMBER
Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.
Sources: Literature
Mendeliome v0.2547 C7orf43 Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence)
Mendeliome v0.2547 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2546 C7orf43 Zornitza Stark gene: C7orf43 was added
gene: C7orf43 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C7orf43 were set to 30715179
Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351
Review for gene: C7orf43 was set to AMBER
Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2572 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Intellectual disability syndromic and non-syndromic v0.2571 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2545 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from Epilepsy, early-onset, vitamin B6-dependent, 617290 to Epilepsy, early-onset, vitamin B6-dependent, MIM#617290
Mendeliome v0.2544 PLPBP Zornitza Stark Publications for gene: PLPBP were set to 29689137; 27912044
Mendeliome v0.2543 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2570 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Genetic Epilepsy v0.673 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Genetic Epilepsy v0.672 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.671 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Genetic Epilepsy v0.670 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Genetic Epilepsy v0.669 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Mendeliome v0.2543 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Mendeliome v0.2543 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Mendeliome v0.2543 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Mendeliome v0.2542 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Mendeliome v0.2541 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Genetic Epilepsy v0.668 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2540 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.668 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.667 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2539 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Intellectual disability syndromic and non-syndromic v0.2569 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Intellectual disability syndromic and non-syndromic v0.2568 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2567 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2566 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.114 NAXD Zornitza Stark Marked gene: NAXD as ready
Regression v0.114 NAXD Zornitza Stark Gene: naxd has been classified as Green List (High Evidence).
Regression v0.114 NAXD Zornitza Stark Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Regression v0.113 NAXD Zornitza Stark Publications for gene: NAXD were set to
Regression v0.112 NAXD Zornitza Stark Mode of inheritance for gene: NAXD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.111 NAXD Zornitza Stark reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.111 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Regression v0.111 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Regression v0.111 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Regression v0.110 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Intellectual disability syndromic and non-syndromic v0.2565 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Regression v0.109 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2564 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.108 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Regression v0.108 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2563 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2563 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2562 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.107 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.127 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Callosome v0.127 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Callosome v0.127 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Callosome v0.126 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Callosome v0.125 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.124 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Callosome v0.124 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Callosome v0.123 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.116 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Microcephaly v0.116 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Microcephaly v0.116 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Microcephaly v0.115 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Microcephaly v0.114 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.113 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Microcephaly v0.113 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Microcephaly v0.112 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Cerebellar and Pontocerebellar Hypoplasia v0.36 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.35 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.34 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.34 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.33 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2539 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Mendeliome v0.2539 TSEN34 Zornitza Stark Added comment: Comment when marking as ready: Reviewed ClinVar: all variants submitted are VOUS or LB, except for one LP, but no further details provided.
Mendeliome v0.2539 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Mendeliome v0.2539 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Mendeliome v0.2538 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2537 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Mendeliome v0.2536 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Mendeliome v0.2536 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient evidence to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.
Mendeliome v0.2535 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected siblings from a consanguineous family (two arms). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual was tested with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: None
Mendeliome v0.2535 TSEN34 Zornitza Stark Deleted their review
Mendeliome v0.2535 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Mendeliome v0.2535 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Mendeliome v0.2535 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753; Ataxia
Mendeliome v0.2534 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Mendeliome v0.2533 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2532 TSEN54 Zornitza Stark reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2A 277470, Pontocerebellar hypoplasia type 4 225753, Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2532 TSEN54 Zornitza Stark Deleted their review
Mendeliome v0.2532 TSEN54 Zornitza Stark Deleted their comment
Mendeliome v0.2532 Zornitza Stark removed gene:FUS from the panel
Mendeliome v0.2531 Zornitza Stark removed gene:C9orf72 from the panel
Mendeliome v0.2530 TMPRSS9 Zornitza Stark Marked gene: TMPRSS9 as ready
Mendeliome v0.2530 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Mendeliome v0.2530 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Mendeliome v0.2530 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Marked gene: GABRB2 as ready
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Genetic Epilepsy v0.666 GABRB2 Zornitza Stark Publications for gene: GABRB2 were set to
Genetic Epilepsy v0.665 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.664 GABRB2 Zornitza Stark reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2530 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Mendeliome v0.2529 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Mendeliome v0.2528 GABRB2 Zornitza Stark Mode of pathogenicity for gene: GABRB2 was changed from to Other
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Mendeliome v0.2527 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Lissencephaly and Band Heterotopia v0.28 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Lissencephaly and Band Heterotopia v0.27 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.26 NDE1 Zornitza Stark reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988; Phenotypes: Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.33 ASTN1 Lauren Akesson reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 29706646; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2526 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Mendeliome v0.2526 NDE1 Zornitza Stark Added comment: Comment when marking as ready: The two OMIM phenotypes likely represent a spectrum of brain abnormalities associated with this gene.
Mendeliome v0.2526 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Mendeliome v0.2526 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Mendeliome v0.2525 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Mendeliome v0.2524 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2523 CDC45 Zornitza Stark Marked gene: CDC45 as ready
Mendeliome v0.2523 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Mendeliome v0.2523 CDC45 Zornitza Stark Phenotypes for gene: CDC45 were changed from to Meier-Gorlin syndrome 7, MIM 617063
Mendeliome v0.2522 CDC45 Zornitza Stark Publications for gene: CDC45 were set to
Mendeliome v0.2521 CDC45 Zornitza Stark Mode of inheritance for gene: CDC45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2520 CPSF1 Zornitza Stark Phenotypes for gene: CPSF1 were changed from Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia to Myopia 27, 618827; high myopia; early-onset high myopia
Mendeliome v0.2519 CPSF1 Zornitza Stark Marked gene: CPSF1 as ready
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2519 CPSF1 Zornitza Stark Classified gene: CPSF1 as Green List (high evidence)
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Marked gene: ADAMTS19 as ready
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Classified gene: ADAMTS19 as Amber List (moderate evidence)
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.28 ADAMTS19 Zornitza Stark gene: ADAMTS19 was added
gene: ADAMTS19 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321
Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease
Review for gene: ADAMTS19 was set to AMBER
Added comment: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2562 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 31388190
Intellectual disability syndromic and non-syndromic v0.2560 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Intellectual disability syndromic and non-syndromic v0.2559 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2518 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Mendeliome v0.2518 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2558 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2518 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159
Mendeliome v0.2517 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Mendeliome v0.2516 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation 608354 to Capillary malformation-arteriovenous malformation, MIM# 608354
Vascular Malformations_Germline v0.82 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Vascular Malformations_Germline v0.81 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2515 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1, MIM#608354
Mendeliome v0.2514 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Mendeliome v0.2513 RASA1 Zornitza Stark Mode of inheritance for gene: RASA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2512 CFAP69 Zornitza Stark Marked gene: CFAP69 as ready
Mendeliome v0.2512 CFAP69 Zornitza Stark Gene: cfap69 has been classified as Green List (High Evidence).
Mendeliome v0.2512 CFAP69 Zornitza Stark Phenotypes for gene: CFAP69 were changed from to Asthenoteratospermia (Impaired sperm motility; severe flagellar abnormalities (short, coiled, absent or irregular calibre))
Mendeliome v0.2511 CFAP69 Zornitza Stark Publications for gene: CFAP69 were set to
Mendeliome v0.2510 CFAP69 Zornitza Stark Mode of inheritance for gene: CFAP69 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Macular Dystrophy/Stargardt Disease v0.8 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2509 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Mendeliome v0.2509 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Mendeliome v0.2509 ABCA4 Zornitza Stark Phenotypes for gene: ABCA4 were changed from to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200
Mendeliome v0.2508 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Mendeliome v0.2507 ABCA4 Zornitza Stark Mode of inheritance for gene: ABCA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2506 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease
Intellectual disability syndromic and non-syndromic v0.2557 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Intellectual disability syndromic and non-syndromic v0.2556 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2555 TLK2 Zornitza Stark reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2506 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Mendeliome v0.2506 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Mendeliome v0.2506 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease
Mendeliome v0.2505 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Mendeliome v0.2504 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.65 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.65 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.65 DYRK1A Zornitza Stark Classified gene: DYRK1A as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.65 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.64 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYRK1A were set to 25707398; 31263215
Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7 (MIM#614104)
Review for gene: DYRK1A was set to GREEN
Added comment: Review of 15 patients with pathogenic DYRK1A variants revealed 11 of whom presented with CAKUT/genital defects. Studies in Xenopus embryos supported findings (Blackburn 2019; PMID: 31263215)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)
Intellectual disability syndromic and non-syndromic v0.2554 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Intellectual disability syndromic and non-syndromic v0.2553 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2552 DYRK1A Zornitza Stark Deleted their review
Intellectual disability syndromic and non-syndromic v0.2552 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2503 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Mendeliome v0.2503 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Mendeliome v0.2503 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)
Polymicrogyria and Schizencephaly v0.33 AHI1 Lauren Akesson reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15467982; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2502 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Mendeliome v0.2501 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2500 WARS Zornitza Stark Marked gene: WARS as ready
Mendeliome v0.2500 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Mendeliome v0.2500 WARS Zornitza Stark Classified gene: WARS as Green List (high evidence)
Mendeliome v0.2500 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.18 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.2 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.2 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Mendeliome v0.2499 POLR1B Zornitza Stark Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome to Treacher-Collins syndrome type 4
Mendeliome v0.2498 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Mendeliome v0.2498 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mendeliome v0.2498 POLR1B Zornitza Stark Phenotypes for gene: POLR1B were changed from bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations to Treacher-Collins syndrome
Mendeliome v0.2497 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Mendeliome v0.2497 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mendeliome v0.2496 POLR1B Zornitza Stark changed review comment from: Five unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model. Note four of the families had missense variants affecting same residue, p.Arg1003
Mendeliome v0.2496 POLR1B Zornitza Stark changed review comment from: Six unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model.
Mendeliome v0.2496 POLR1B Zornitza Stark reviewed gene: POLR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31649276; Phenotypes: Treacher-Collins syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2496 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Mendeliome v0.2496 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Mendeliome v0.2496 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia, MIM 269250
Mendeliome v0.2495 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Mendeliome v0.2494 SLC35D1 Zornitza Stark Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.33 C1orf194 Zornitza Stark Marked gene: C1orf194 as ready
Hereditary Neuropathy_CMT - isolated v0.33 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.33 C1orf194 Zornitza Stark Classified gene: C1orf194 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.33 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.32 C1orf194 Zornitza Stark gene: C1orf194 was added
gene: C1orf194 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to 31199454
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating
Review for gene: C1orf194 was set to AMBER
Added comment: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model.
Sources: Literature
Mendeliome v0.2493 C1orf194 Zornitza Stark Marked gene: C1orf194 as ready
Mendeliome v0.2493 C1orf194 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model.
Mendeliome v0.2493 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2493 C1orf194 Zornitza Stark Mode of pathogenicity for gene: C1orf194 was changed from None to Other
Mendeliome v0.2492 C1orf194 Zornitza Stark Classified gene: C1orf194 as Amber List (moderate evidence)
Mendeliome v0.2492 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2491 REC114 Zornitza Stark Marked gene: REC114 as ready
Mendeliome v0.2491 REC114 Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence).
Mendeliome v0.2491 REC114 Zornitza Stark Classified gene: REC114 as Green List (high evidence)
Mendeliome v0.2491 REC114 Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Marked gene: UBA2 as ready
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Classified gene: UBA2 as Amber List (moderate evidence)
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.16 UBA2 Zornitza Stark gene: UBA2 was added
gene: UBA2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Review for gene: UBA2 was set to AMBER
Added comment: PMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Literature
Mendeliome v0.2490 UBA2 Zornitza Stark Marked gene: UBA2 as ready
Mendeliome v0.2490 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2490 UBA2 Zornitza Stark Classified gene: UBA2 as Amber List (moderate evidence)
Mendeliome v0.2490 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.40 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Arthrogryposis v0.40 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Arthrogryposis v0.40 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Arthrogryposis v0.39 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Arthrogryposis v0.38 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.37 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332920, 31448844; Phenotypes: Myopathy, tubular aggregate, 1 160565, Stormorken syndrome 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10, MIM# 612783
Combined Immunodeficiency v0.157 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Combined Immunodeficiency v0.156 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.155 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 10, MIM# 612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2489 NDE1 Elena Savva reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30637988; Phenotypes: ?Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2489 GABRB2 Elena Savva reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2489 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Mendeliome v0.2489 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Mendeliome v0.2489 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10 612783; Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Mendeliome v0.2488 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Mendeliome v0.2487 STIM1 Zornitza Stark Mode of pathogenicity for gene: STIM1 was changed from to Other
Mendeliome v0.2486 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782
Combined Immunodeficiency v0.154 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Combined Immunodeficiency v0.153 ORAI1 Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.152 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 9, MIM# 612782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2485 MDM2 Belinda Chong reviewed gene: MDM2: Rating: RED; Mode of pathogenicity: None; Publications: 28846075; Phenotypes: ?Lessel-Kubisch syndrome 618681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2485 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Mendeliome v0.2485 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Mendeliome v0.2485 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782; Myopathy, tubular aggregate, 2, MIM# 615883
Mendeliome v0.2484 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Mendeliome v0.2483 ORAI1 Zornitza Stark Mode of pathogenicity for gene: ORAI1 was changed from to Other
Mendeliome v0.2482 ORAI1 Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2481 RTTN Zornitza Stark Marked gene: RTTN as ready
Mendeliome v0.2481 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Mendeliome v0.2481 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Intellectual disability; cerebral polymicrogyria; primary microcephaly; growth defects; congenital anomalies
Mendeliome v0.2480 RTTN Zornitza Stark Publications for gene: RTTN were set to
Mendeliome v0.2479 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2478 UBAP1 Zornitza Stark Marked gene: UBAP1 as ready
Mendeliome v0.2478 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Mendeliome v0.2478 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from to Spastic paraplegia 80, autosomal dominant 618418
Mendeliome v0.2477 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to
Mendeliome v0.2476 UBAP1 Zornitza Stark Mode of inheritance for gene: UBAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.34 SLC6A6 Zornitza Stark gene: SLC6A6 was added
gene: SLC6A6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Mendeliome v0.2475 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Mendeliome v0.2475 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2474 MRPS14 Zornitza Stark Phenotypes for gene: MRPS14 were changed from Combined oxidative phosphorylation deficiency 38, MIM# 618378 to Combined oxidative phosphorylation deficiency 38, MIM# 618378; perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability
Autism v0.86 TMPRSS9 Zornitza Stark Marked gene: TMPRSS9 as ready
Autism v0.86 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Autism v0.86 TMPRSS9 Zornitza Stark gene: TMPRSS9 was added
gene: TMPRSS9 was added to Autism. Sources: Literature
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to autism spectrum disorder
Review for gene: TMPRSS9 was set to RED
Added comment: Single individual reported.
Sources: Literature
Optic Atrophy v0.102 MCAT Zornitza Stark Marked gene: MCAT as ready
Optic Atrophy v0.102 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Mendeliome v0.2473 TMPRSS9 Zornitza Stark Classified gene: TMPRSS9 as Red List (low evidence)
Mendeliome v0.2473 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Mendeliome v0.2472 MCAT Zornitza Stark Marked gene: MCAT as ready
Mendeliome v0.2472 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Optic Atrophy v0.102 MCAT Zornitza Stark gene: MCAT was added
gene: MCAT was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.2472 MCAT Zornitza Stark Classified gene: MCAT as Red List (low evidence)
Mendeliome v0.2472 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.664 SCN8A Zornitza Stark Publications for gene: SCN8A were set to 31625145; 30842224
Genetic Epilepsy v0.663 SCN8A Zornitza Stark Publications for gene: SCN8A were set to 31625145
Mendeliome v0.2471 ABCC1 Zornitza Stark Marked gene: ABCC1 as ready
Mendeliome v0.2471 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2471 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Mendeliome v0.2471 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2470 ABCC1 Zornitza Stark gene: ABCC1 was added
gene: ABCC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC1 were set to 31273342
Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss
Review for gene: ABCC1 was set to AMBER
Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected) PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD. Amber rating in light of gnomad frequency of one of the reported variants.
Sources: Literature
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Marked gene: ABCC1 as ready
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Added comment: Comment when marking as ready: Keep as Amber for now in light of gnomad data about one of the variants.
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.340 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.340 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Intellectual disability syndromic and non-syndromic v0.2551 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Intellectual disability syndromic and non-syndromic v0.2550 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2549 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Genetic Epilepsy v0.661 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Genetic Epilepsy v0.660 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.659 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2469 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Mendeliome v0.2469 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Mendeliome v0.2469 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Mendeliome v0.2468 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Mendeliome v0.2467 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.31 SIGMAR1 Zornitza Stark Marked gene: SIGMAR1 as ready
Hereditary Neuropathy_CMT - isolated v0.31 SIGMAR1 Zornitza Stark Gene: sigmar1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.31 SIGMAR1 Zornitza Stark Phenotypes for gene: SIGMAR1 were changed from ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ)
Hereditary Neuropathy_CMT - isolated v0.30 SIGMAR1 Zornitza Stark Publications for gene: SIGMAR1 were set to
Hereditary Neuropathy_CMT - isolated v0.29 SIGMAR1 Zornitza Stark reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31511340; Phenotypes: Distal hereditary motor neuropathy of Jerash type (HMNJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Marked gene: SIGMAR1 as ready
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Gene: sigmar1 has been classified as Green List (High Evidence).
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Phenotypes for gene: SIGMAR1 were changed from to Amyotrophic lateral sclerosis 16, juvenile 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726; distal hereditary motor neuropathy of Jerash type (HMNJ)
Mendeliome v0.2465 SIGMAR1 Zornitza Stark Publications for gene: SIGMAR1 were set to
Mendeliome v0.2464 SIGMAR1 Zornitza Stark Mode of inheritance for gene: SIGMAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Marked gene: ATOH7 as ready
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Gene: atoh7 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment
Vitreoretinopathy v0.4 ATOH7 Zornitza Stark Publications for gene: ATOH7 were set to
Vitreoretinopathy v0.3 ATOH7 Zornitza Stark Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.2 ATOH7 Zornitza Stark reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900, microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2463 ATOH7 Zornitza Stark Marked gene: ATOH7 as ready
Mendeliome v0.2463 ATOH7 Zornitza Stark Gene: atoh7 has been classified as Green List (High Evidence).
Mendeliome v0.2463 ATOH7 Zornitza Stark Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment
Mendeliome v0.2462 ATOH7 Zornitza Stark Publications for gene: ATOH7 were set to
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Marked gene: GNAI2 as ready
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2461 ATOH7 Zornitza Stark Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2460 GNAI2 Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence)
Mendeliome v0.2460 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2459 GNAI2 Zornitza Stark reviewed gene: GNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27787898; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark changed review comment from: Single individual with de novo variant reported.
Sources: Literature; to: Two individuals reported, some functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark edited their review of gene: GNAI2: Changed rating: AMBER; Changed publications: 31036916, 27787898
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark gene: GNAI2 was added
gene: GNAI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI2 were set to 31036916
Phenotypes for gene: GNAI2 were set to Syndromic intellectual disability
Review for gene: GNAI2 was set to RED
Added comment: Single individual with de novo variant reported.
Sources: Literature
Mendeliome v0.2459 GNAI2 Zornitza Stark Marked gene: GNAI2 as ready
Mendeliome v0.2459 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence).
Mendeliome v0.2459 GNAI2 Zornitza Stark Classified gene: GNAI2 as Red List (low evidence)
Mendeliome v0.2459 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence).
Mendeliome v0.2458 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Hypertrophic cardiomyopathy
Mendeliome v0.2457 KLHL24 Zornitza Stark Publications for gene: KLHL24 were set to 29779254; 30120936
Mendeliome v0.2456 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2455 KLHL24 Zornitza Stark reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 30715372; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy_HCM v0.23 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy_HCM v0.22 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy_HCM v0.22 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy_HCM v0.21 KLHL24 Zornitza Stark Classified gene: KLHL24 as Green List (high evidence)
Hypertrophic cardiomyopathy_HCM v0.21 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Marked gene: FEM1B as ready
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Classified gene: FEM1B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2546 FEM1B Zornitza Stark gene: FEM1B was added
gene: FEM1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FEM1B were set to 31036916
Phenotypes for gene: FEM1B were set to Syndromic intellectual disability
Review for gene: FEM1B was set to AMBER
Added comment: No OMIM phenotype PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein. Cannot be certain the DDD and GeneMatcher individuals are unrelated, therefore treat as two reports for now.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark Marked gene: WIPI2 as ready
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Red List (Low Evidence).
Mendeliome v0.2455 FEM1B Zornitza Stark Marked gene: FEM1B as ready
Mendeliome v0.2455 FEM1B Zornitza Stark Added comment: Comment when marking as ready: Agree cannot be confident these represent three unrelated families.
Mendeliome v0.2455 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2455 FEM1B Zornitza Stark Phenotypes for gene: FEM1B were changed from Syndromic global developmental delay to Syndromic intellectual disability
Mendeliome v0.2454 FEM1B Zornitza Stark Classified gene: FEM1B as Amber List (moderate evidence)
Mendeliome v0.2454 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Added comment: Comment when marking as ready: Progressive neurodegenerative disorder rather than true intellectual disability. The first characteristic neurological abnormalities were noted between the ages of 2–8 years. Cardinal features included tremor, dysarthria, swallowing difficulties, ataxia, truncal muscle weakness, strabismus, and decreased visual acuity.
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark gene: WIPI2 was added
gene: WIPI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111
Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Review for gene: WIPI2 was set to RED
Added comment: Four homozygous individuals from one consanguineous family with intellectual disability, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.
Sources: Literature
Mendeliome v0.2453 WIPI2 Zornitza Stark Classified gene: WIPI2 as Red List (low evidence)
Mendeliome v0.2453 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.79 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Hereditary Spastic Paraplegia - paediatric v0.79 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.79 SEC31A Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - paediatric v0.79 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.78 SEC31A Zornitza Stark gene: SEC31A was added
gene: SEC31A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Review for gene: SEC31A was set to AMBER
Added comment: Frameshift. c.2776_2777, TA duplication, causing predicted p.A927fs*61 truncation and predicted NMD in 2 affected siblings in consanguineous Bedouin family with severe congenital neurological syndrome with spastic paraplegia, multiple contractures, profound developmental delay and convulsions. Failure to thrive. Lethal by age 4 years. Also had hearing defect, bilateral congenital cataract, horizontal nystagmus, with flat retina and optic atrophy. Supporting functional assays from knockout drosophila.
Sources: Literature
Mendeliome v0.2452 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Mendeliome v0.2452 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2452 SEC31A Zornitza Stark Phenotypes for gene: SEC31A were changed from congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Mendeliome v0.2451 SEC31A Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence)
Mendeliome v0.2451 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Optic Atrophy v0.100 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood onset degeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Ataxia - paediatric v0.211 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Ataxia - paediatric v0.211 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.211 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Ataxia - paediatric v0.211 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.210 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Regression v0.107 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Regression v0.107 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Regression v0.107 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Regression v0.107 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Regression v0.106 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Mendeliome v0.2450 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Mendeliome v0.2450 SLC44A1 Zornitza Stark Added comment: Comment when marking as ready: Childhood onset neurodegeneration
Mendeliome v0.2450 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Mendeliome v0.2450 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Mendeliome v0.2450 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Mendeliome v0.2449 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Mendeliome v0.2449 SMCHD1 Zornitza Stark Added comment: Comment when marking as ready: Note association with FSHD2 is postulated to have digenic inheritance, caused by the combination of a heterozygous mutation in the SMCHD1 gene (614982) on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 (606009) expression.
Mendeliome v0.2449 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Mendeliome v0.2449 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic
Mendeliome v0.2448 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Mendeliome v0.2447 SMCHD1 Zornitza Stark Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672
Angelman Rett like syndromes v0.7 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Angelman Rett like syndromes v0.6 CDKL5 Zornitza Stark Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.5 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27080038, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2446 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Mendeliome v0.2446 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Mendeliome v0.2446 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672
Mendeliome v0.2445 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Mendeliome v0.2444 CDKL5 Zornitza Stark Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v0.16 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Cerebral Palsy v0.16 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.16 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Cerebral Palsy v0.16 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2443 AEBP1 Zornitza Stark Marked gene: AEBP1 as ready
Mendeliome v0.2443 AEBP1 Zornitza Stark Gene: aebp1 has been classified as Green List (High Evidence).
Mendeliome v0.2443 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Mendeliome v0.2442 AEBP1 Zornitza Stark Publications for gene: AEBP1 were set to
Mendeliome v0.2441 AEBP1 Zornitza Stark Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 AEBP1 Zornitza Stark reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606302, 30668708, 30548383, 30759870; Phenotypes: Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Marked gene: AEBP1 as ready
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Gene: aebp1 has been classified as Green List (High Evidence).
Mendeliome v0.2440 SLC6A6 Chern Lim gene: SLC6A6 was added
gene: SLC6A6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486)

One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Mendeliome v0.2440 MRPS14 Dean Phelan reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30358850; Phenotypes: perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 TMPRSS9 Chern Lim gene: TMPRSS9 was added
gene: TMPRSS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to autism spectrum disorder
Review for gene: TMPRSS9 was set to RED
Added comment: Association with Mendelian disease not established.

Is a candidate gene for autism spectrum disorder: single patient, compound heterozygous nonsense variants. Functional studies showed Tmprss9 gene is expressed in mouse brain, knockout mice had decreased social interest and social recognition. (PMID: 31943016)
Sources: Literature
Mendeliome v0.2440 MCAT Chern Lim gene: MCAT was added
gene: MCAT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: One family reported - a consanguineous family, two homozygous missense variants in both affected siblings. Functional studies showed both missense together have synergic impact on MCAT protein misfolding; p.(L81R) had more impact on MCAT protein expression reduction than did the p.(R212W); some study in conditional knockout mice. (PMID:31915829)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2544 MAB21L1 Kristin Rigbye edited their review of gene: MAB21L1: Changed rating: GREEN
Mendeliome v0.2440 CAP2 Melanie Marty Deleted their comment
Mendeliome v0.2440 CAP2 Melanie Marty edited their review of gene: CAP2: Added comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development.; Changed rating: RED
Mendeliome v0.2440 WIPI2 Melanie Marty Deleted their comment
Mendeliome v0.2440 WIPI2 Melanie Marty edited their review of gene: WIPI2: Added comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.; Changed rating: RED; Changed phenotypes: Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Mendeliome v0.2440 ATOH7 Paul De Fazio changed review comment from: Segregates with disease in 3 consanguineous families from Pakistan/Turkey and one non-consanguineous family of Swiss origin. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation.; to: Segregates with disease in 3 consanguineous families from Pakistan/Turkey with global eye abnormalities, and one non-consanguineous family of Swiss origin with optic nerve hypoplasia. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation (in mice).
Mendeliome v0.2440 GFAP Paul De Fazio changed review comment from: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2440 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2440 UBAP1 Ain Roesley reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31203368; Phenotypes: hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000 to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Mendeliome v0.2440 RTTN Ee Ming Wong reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067; Phenotypes: Intellectual disability, cerebral polymicrogyria, primary microcephaly, growth defects, congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 PKDCC Paul De Fazio changed review comment from: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature; to: 2 apparently unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature
Aortopathy_Connective Tissue Disorders v0.20 AEBP1 Zornitza Stark Publications for gene: AEBP1 were set to
Mendeliome v0.2440 ORAI1 Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Mendeliome v0.2440 CDKL5 Teresa Zhao reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; 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
Aortopathy_Connective Tissue Disorders v0.19 AEBP1 Zornitza Stark Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.15 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Mendeliome v0.2440 STIM1 Natalie Tan reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Myopathy, immunodeficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dystonia - complex v0.64 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Dystonia - complex v0.64 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Dystonia - complex v0.64 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Dystonia - complex v0.64 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Dystonia - complex v0.63 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 UBA2 Elena Savva gene: UBA2 was added
gene: UBA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBA2 were set to PMID: 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Penetrance for gene: UBA2 were set to unknown
Review for gene: UBA2 was set to AMBER
Added comment: No OMIM phenotype

PMID: 31332306 - a single patient with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in patients with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance

PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2543 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Mendeliome v0.2440 ORAI1 Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Mendeliome v0.2440 ORAI1 Natalie Tan reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Progressive myopathy, contractures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2440 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Mendeliome v0.2440 GSX2 Zornitza Stark Added comment: Comment when marking as ready: Intellectual disability, spastic tetraparesis, dystonia
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 REC114 Michelle Torres gene: REC114 was added
gene: REC114 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: REC114 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC114 were set to 30388401; 31704776
Phenotypes for gene: REC114 were set to Female infertility
Review for gene: REC114 was set to GREEN
Added comment: Three variants reported are either within or flanking exon 4.
- One hom patient (splice) had a miscarriage, 2 spontaneous complete hydatidiform moles, and 1 complete hydatidiform mole following intrauterine sperm injection (PMID: 30388401)
- Two hom unrelated patients from consanguineous families with abnormal pronuclear formation during fertilisation and subsequent early embrionic arrest resulting in female infertility. Both variants (1 missense and 1 splice) were shown to result in LoF (PMID: 31704776)
Sources: Literature
Mendeliome v0.2440 AGTPBP1 Kristin Rigbye reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30420557; Phenotypes: Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy, Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2439 C1orf194 Ain Roesley gene: C1orf194 was added
gene: C1orf194 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to PMID: 31199454
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth
Review for gene: C1orf194 was set to AMBER
Added comment: PMID: 31199454; 2 missense variants in 2 large families segregating in an AD pattern. Mouse models for one of the variants (p.(Ile121Asn) led to impairments in moto and neuromuscular functions
Sources: Literature
Mendeliome v0.2439 SLC35D1 Teresa Zhao reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31423530, 19508970; Phenotypes: Schneckenbecken dysplasia, MIM 269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229
Mendeliome v0.2439 POLR1B Paul De Fazio changed review comment from: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature; to: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.9 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.8 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.7 CREB3L1 Zornitza Stark reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2439 POLR1B Paul De Fazio gene: POLR1B was added
gene: POLR1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations
Review for gene: POLR1B was set to AMBER
gene: POLR1B was marked as current diagnostic
Added comment: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Mendeliome v0.2439 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Mendeliome v0.2439 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Mendeliome v0.2439 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, MIM#616229
Mendeliome v0.2438 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Mendeliome v0.2437 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2436 WARS Naomi Baker gene: WARS was added
gene: WARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WARS were set to PMID: 28369220; 31321409; 31069783.
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); distal wasting; distal weakness; length-dependent motor axonal degeneration
Review for gene: WARS was set to GREEN
Added comment: 14 patients from five families were reported to have WARS-related neuropathy across three publications. Expression studies of mutant demonstrated decreased protein when compared to wild-type.
Sources: Literature
Mendeliome v0.2436 ACKR3 Zornitza Stark Marked gene: ACKR3 as ready
Mendeliome v0.2436 ACKR3 Zornitza Stark Gene: ackr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2436 ACKR3 Zornitza Stark Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis to Oculomotor synkinesis; Ptosis
Mendeliome v0.2435 ACKR3 Zornitza Stark Classified gene: ACKR3 as Amber List (moderate evidence)
Mendeliome v0.2435 ACKR3 Zornitza Stark Gene: ackr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2434 CYLD Zornitza Stark Marked gene: CYLD as ready
Mendeliome v0.2434 CYLD Zornitza Stark Gene: cyld has been classified as Green List (High Evidence).
Mendeliome v0.2434 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis
Mendeliome v0.2433 CYLD Zornitza Stark Publications for gene: CYLD were set to
Mendeliome v0.2432 CYLD Zornitza Stark Mode of inheritance for gene: CYLD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2431 PCDH19 Zornitza Stark Marked gene: PCDH19 as ready
Mendeliome v0.2431 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Mendeliome v0.2431 PCDH19 Zornitza Stark Phenotypes for gene: PCDH19 were changed from to Epileptic encephalopathy, early infantile, 9 300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment
Mendeliome v0.2430 PCDH19 Zornitza Stark Publications for gene: PCDH19 were set to
Mendeliome v0.2429 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.2428 GFAP Zornitza Stark Marked gene: GFAP as ready
Mendeliome v0.2428 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Mendeliome v0.2428 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from to Alexander disease, MIM# 203450
Mendeliome v0.2427 SLC9A7 Dean Phelan reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.2427 GFAP Zornitza Stark Publications for gene: GFAP were set to
Mendeliome v0.2426 GFAP Zornitza Stark Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Marked gene: COPA as ready
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Autoinflammatory Disorders v0.66 COPA Zornitza Stark Publications for gene: COPA were set to 31455335; 30804679
Autoinflammatory Disorders v0.65 COPA Zornitza Stark Publications for gene: COPA were set to
Autoinflammatory Disorders v0.64 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.63 COPA Zornitza Stark reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2425 COPA Zornitza Stark Marked gene: COPA as ready
Mendeliome v0.2425 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Mendeliome v0.2425 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Mendeliome v0.2424 COPA Zornitza Stark Publications for gene: COPA were set to
Mendeliome v0.2423 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Marked gene: SAMD12 as ready
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Tag deep intronic tag was added to gene: SAMD12.
Mendeliome v0.2422 DYRK1A Crystle Lee reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2422 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.15 LRP6 Elena Savva reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31332306; Phenotypes: {Coronary artery disease, autosomal dominant, 2} 610947, Tooth agenesis, selective, 7 616724, Split-hand/foot malformation; Mode of inheritance: None
Mendeliome v0.2421 PLOD3 Alison Yeung Marked gene: PLOD3 as ready
Mendeliome v0.2421 PLOD3 Alison Yeung Added comment: Comment when marking as ready: >3 unrelated families reported
Mendeliome v0.2421 PLOD3 Alison Yeung Gene: plod3 has been classified as Green List (High Evidence).
Mendeliome v0.2421 TLK2 Teresa Zhao reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Classified gene: SAMD12 as Green List (high evidence)
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Mendeliome v0.2421 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Mendeliome v0.2421 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Mendeliome v0.2421 PLOD3 Alison Yeung Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2421 FOXG1 Zornitza Stark Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454
Mendeliome v0.2420 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Mendeliome v0.2419 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.658 SAMD12 Zornitza Stark gene: SAMD12 was added
gene: SAMD12 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SAMD12 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SAMD12 were set to 30194086; 29507423
Phenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1, MIM# 601068
Mode of pathogenicity for gene: SAMD12 was set to Other
Review for gene: SAMD12 was set to GREEN
Added comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains. Note these were identified on long-read sequencing and may not be detectable by all assays.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Mendeliome v0.2418 TBX6 Alison Yeung Marked gene: TBX6 as ready
Mendeliome v0.2418 TBX6 Alison Yeung Added comment: Comment when marking as ready: Biallelic variants associated with spondylocostal dysostosis in >3 unrelated individuals
Mouse model recapitulates phenotype
Mendeliome v0.2418 TBX6 Alison Yeung Gene: tbx6 has been classified as Green List (High Evidence).
Mendeliome v0.2418 SAMD12 Zornitza Stark Marked gene: SAMD12 as ready
Mendeliome v0.2418 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Mendeliome v0.2418 SAMD12 Zornitza Stark Tag deep intronic tag was added to gene: SAMD12.
Mendeliome v0.2418 TBX6 Alison Yeung Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2418 SAMD12 Zornitza Stark Mode of inheritance for gene: SAMD12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2417 SAMD12 Zornitza Stark Classified gene: SAMD12 as Green List (high evidence)
Mendeliome v0.2417 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Differences of Sex Development v0.21 MYRF Ain Roesley gene: MYRF was added
gene: MYRF was added to Disorders of Sex Differentiation. Sources: Literature
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to PMID: 30985895
Phenotypes for gene: MYRF were set to disorders of sex development
Review for gene: MYRF was set to GREEN
Added comment: PMID: 30985895; 4 unrelated families with de novo variants. 1 family includes monozygotic twins
Sources: Literature
Mendeliome v0.2416 FUS Zornitza Stark commented on gene: FUS
Mendeliome v0.2416 ABCA4 Kristin Rigbye reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2416 CFAP69 Ee Ming Wong reviewed gene: CFAP69: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29606301, 30415212; Phenotypes: Asthenoteratospermia (Impaired sperm motility, severe flagellar abnormalities (short, coiled, absent or irregular calibre)); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209
Ciliary Dyskinesia v0.28 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Intellectual disability syndromic and non-syndromic v0.2541 IGF1R Zornitza Stark Publications for gene: IGF1R were set to 31586944
Intellectual disability syndromic and non-syndromic v0.2541 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2416 UBE3A Alison Yeung Marked gene: UBE3A as ready
Mendeliome v0.2416 UBE3A Alison Yeung Gene: ube3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Marked gene: YARS as ready
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2416 C9orf72 Zornitza Stark commented on gene: C9orf72
Mendeliome v0.2416 RASA1 Chern Lim reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Classified gene: YARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2539 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS were set to Intellectual disability; deafness; nystagmus; liver dysfunction
Review for gene: YARS was set to GREEN
Added comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features.
Sources: Literature
Mendeliome v0.2416 ADAMTS19 Alison Yeung Marked gene: ADAMTS19 as ready
Mendeliome v0.2416 ADAMTS19 Alison Yeung Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2416 ADAMTS19 Alison Yeung Classified gene: ADAMTS19 as Amber List (moderate evidence)
Mendeliome v0.2416 ADAMTS19 Alison Yeung Added comment: Comment on list classification: Two different homozygous variants in two consanguineous families. Animal model demonstrates cardiac phenotype
Await further reported families
Mendeliome v0.2416 ADAMTS19 Alison Yeung Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2538 DYRK1A Crystle Lee reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2538 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2415 YARS Zornitza Stark Marked gene: YARS as ready
Mendeliome v0.2415 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Mendeliome v0.2415 YARS Zornitza Stark Phenotypes for gene: YARS were changed from to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Bi-allelic variants: ID, deafness, nystagmus
Mendeliome v0.2414 YARS Zornitza Stark Publications for gene: YARS were set to
Mendeliome v0.2413 YARS Zornitza Stark Mode of inheritance for gene: YARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2412 CFAP65 Zornitza Stark Marked gene: CFAP65 as ready
Mendeliome v0.2412 CFAP65 Zornitza Stark Gene: cfap65 has been classified as Green List (High Evidence).
Mendeliome v0.2412 CFAP65 Zornitza Stark Classified gene: CFAP65 as Green List (high evidence)
Mendeliome v0.2412 CFAP65 Zornitza Stark Gene: cfap65 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2537 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2411 CAP2 Alison Yeung Marked gene: CAP2 as ready
Mendeliome v0.2411 CAP2 Alison Yeung Gene: cap2 has been classified as Red List (Low Evidence).
Mendeliome v0.2411 CAP2 Alison Yeung Classified gene: CAP2 as Red List (low evidence)
Mendeliome v0.2411 CAP2 Alison Yeung Added comment: Comment on list classification: Currently only one consanguineous family reported.
Knockout mouse model shows cardiomyopathy but not other clinical features reported in this family
Mendeliome v0.2411 CAP2 Alison Yeung Gene: cap2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2536 IGF1R Zornitza Stark reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to, MIM# 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2410 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Mendeliome v0.2410 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Mendeliome v0.2410 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450
Mendeliome v0.2409 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Mendeliome v0.2408 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2407 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Mendeliome v0.2407 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Mendeliome v0.2407 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2406 CHD4 Teresa Zhao reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2406 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Mendeliome v0.2405 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2404 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Mendeliome v0.2404 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Mendeliome v0.2404 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Mendeliome v0.2403 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Mendeliome v0.2402 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2401 ADAMTS19 Crystle Lee edited their review of gene: ADAMTS19: Changed rating: AMBER
Mendeliome v0.2401 CPSF1 Kristin Rigbye changed review comment from: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature; to: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (PMID: 30689892).
Sources: Literature
Mendeliome v0.2401 CPSF1 Kristin Rigbye edited their review of gene: CPSF1: Changed phenotypes: Myopia 27, 618827, high myopia, early-onset high myopia, high myopia
Mendeliome v0.2401 CPSF1 Kristin Rigbye gene: CPSF1 was added
gene: CPSF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CPSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPSF1 were set to 30689892
Phenotypes for gene: CPSF1 were set to Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia
Review for gene: CPSF1 was set to GREEN
Added comment: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature
Mendeliome v0.2401 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Mendeliome v0.2401 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Mendeliome v0.2401 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4 612164; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2400 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Mendeliome v0.2399 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2398 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Mendeliome v0.2398 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Mendeliome v0.2398 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1 309800
Mendeliome v0.2397 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Mendeliome v0.2396 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Marked gene: RXFP2 as ready
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2395 CDC45 Teresa Zhao reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31474763; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2395 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Mendeliome v0.2395 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Mendeliome v0.2395 SIGMAR1 Michelle Torres changed review comment from: PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS); to: PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS)
Skeletal Muscle Channelopathies v0.3 ATP2A1 Sebastian Lunke reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32040565; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.657 SCN8A Ain Roesley reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.339 ABCC1 Crystle Lee gene: ABCC1 was added
gene: ABCC1 was added to Deafness. Sources: Expert Review
Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCC1 were set to 31273342
Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss (PMID: 31273342)
Review for gene: ABCC1 was set to GREEN
Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected)

PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual
ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD.
Sources: Expert Review
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Phenotypes for gene: RXFP2 were changed from to Cryptorchidism
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Marked gene: PKDCC as ready
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2395 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5 300894; Rett syndrome; Rett-like phenotypes
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark Marked gene: SOD2 as ready
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence).
Mendeliome v0.2394 WDR45 Zornitza Stark Publications for gene: WDR45 were set to
Mendeliome v0.2393 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2392 GABRA1 Ain Roesley reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11992121, 21714819, 24623842, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark gene: SOD2 was added
gene: SOD2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOD2 were set to 31494578
Phenotypes for gene: SOD2 were set to Lethal neonatal dilated cardiomyopathy
Review for gene: SOD2 was set to RED
Added comment: Single patient from a consanguineous family, with functional evidence (reduced total SOD activity in patient cells, lenti-rescue experiment restored mitochondrial SOD (SOD2) activity). (PMID: 31494578)
Sources: Literature
Mendeliome v0.2392 SIGMAR1 Michelle Torres reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31511340; Phenotypes: ?Amyotrophic lateral sclerosis 16, juvenile 614373, ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726, distal hereditary motor neuropathy of Jerash type (HMNJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2392 ATOH7 Paul De Fazio reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2392 GNAI2 Elena Savva gene: GNAI2 was added
gene: GNAI2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI2 were set to PMID: 31036916
Phenotypes for gene: GNAI2 were set to Pituitary adenoma, ACTH-secreting, somatic; Ventricular tachycardia, idiopathic 192605; Syndromic developmental disorder
Review for gene: GNAI2 was set to AMBER
Added comment: Papers associating this gene to tachycardia are very old (pre 2000, OMIM).

PMID: 31036916 - a single de novo patient with syndromic developmental disorder

Summary: AMBER - one report, may be a coincidental de novo finding
Sources: Literature
Mendeliome v0.2392 SOD2 Zornitza Stark Phenotypes for gene: SOD2 were changed from {Microvascular complications of diabetes 6} 612634 to {Microvascular complications of diabetes 6} 612634; Lethal neonatal dilated cardiomyopathy
Mendeliome v0.2391 SOD2 Zornitza Stark Publications for gene: SOD2 were set to
Mendeliome v0.2390 SOD2 Zornitza Stark Mode of inheritance for gene: SOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy_HCM v0.20 KLHL24 Kristin Rigbye gene: KLHL24 was added
gene: KLHL24 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 27798626; 27889062; 30715372
Phenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy
Review for gene: KLHL24 was set to GREEN
Added comment: Heterozygous variants in the start codon, resulting in the use of alternate downstream methionine at residue 29, have previously been reported in multiple patients with AD EBS. These variants have been shown to cause a gain of function, resulting in enhanced protein stability and higher abundance (OMIM).

Recent report of recessive KLHL24 variants in 2 unrelated consanguineous families (total of 7 sequenced affected individuals) with HCM (1 nonsense, 1 missense). A knockdown model of klhl24a in zebrafish recapitulated the cardiac phenotype, supporting loss of function as the mechanism in AR HCM (PMID: 30715372).
Sources: Literature
Differences of Sex Development v0.20 RXFP2 Zornitza Stark Publications for gene: RXFP2 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).