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Brain Channelopathies v0.49 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence).
Brain Channelopathies v0.49 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6 MIM#612656
Brain Channelopathies v0.48 SLC1A3 Zornitza Stark Publications for gene: SLC1A3 were set to
Brain Channelopathies v0.47 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.46 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Brain Channelopathies v0.46 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Brain Channelopathies v0.46 KCNA1 Zornitza Stark Phenotypes for gene: KCNA1 were changed from Episodic ataxia/myokymia syndrome, MIM# 160120 to Episodic ataxia/myokymia syndrome, MIM# 160120
Brain Channelopathies v0.45 KCNA1 Zornitza Stark Phenotypes for gene: KCNA1 were changed from to Episodic ataxia/myokymia syndrome, MIM# 160120
Brain Channelopathies v0.44 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to 11026449
Brain Channelopathies v0.44 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Brain Channelopathies v0.43 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to Other
Brain Channelopathies v0.42 KCNA1 Zornitza Stark Mode of inheritance for gene: KCNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.41 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Brain Channelopathies v0.41 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Brain Channelopathies v0.41 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Episodic ataxia, type 2 MIM#108500
Brain Channelopathies v0.40 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.39 CACNA1A Zornitza Stark Tag STR tag was added to gene: CACNA1A.
Brain Channelopathies v0.38 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Brain Channelopathies v0.38 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Brain Channelopathies v0.38 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235
Brain Channelopathies v0.37 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to 15260953; 22842232; 24468074
Brain Channelopathies v0.37 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Brain Channelopathies v0.36 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.35 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15260953, 22842232, 24468074; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820, CAPOS syndrome, MIM# 601338, Dystonia-12, MIM# 128235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.27 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Blepharophimosis v0.27 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Blepharophimosis v0.27 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Mental retardation, autosomal dominant 57, MIM# 618050
Blepharophimosis v0.26 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Blepharophimosis v0.25 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.24 TLK2 Zornitza Stark reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861108; Phenotypes: Mental retardation, autosomal dominant 57, MIM# 618050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5864 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Mendeliome v0.5864 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Mendeliome v0.5864 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920
Mendeliome v0.5863 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Mendeliome v0.5862 SCARF2 Zornitza Stark Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5861 SCARF2 Zornitza Stark reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.251 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Arthrogryposis v0.251 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Arthrogryposis v0.251 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920
Arthrogryposis v0.250 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Arthrogryposis v0.249 SCARF2 Zornitza Stark Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.248 SCARF2 Zornitza Stark reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.24 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Blepharophimosis v0.24 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Blepharophimosis v0.24 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920
Blepharophimosis v0.23 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Blepharophimosis v0.22 SCARF2 Zornitza Stark Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.21 SCARF2 Zornitza Stark reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v1.0 Zornitza Stark promoted panel to version 1.0
Eye Anterior Segment Abnormalities v0.49 CRYAA Zornitza Stark Marked gene: CRYAA as ready
Eye Anterior Segment Abnormalities v0.49 CRYAA Zornitza Stark Gene: cryaa has been classified as Amber List (Moderate Evidence).
Eye Anterior Segment Abnormalities v0.49 CRYAA Zornitza Stark Classified gene: CRYAA as Amber List (moderate evidence)
Eye Anterior Segment Abnormalities v0.49 CRYAA Zornitza Stark Gene: cryaa has been classified as Amber List (Moderate Evidence).
Eye Anterior Segment Abnormalities v0.48 CRYAA Zornitza Stark gene: CRYAA was added
gene: CRYAA was added to Eye Anterior Segment Abnormalities. Sources: Expert Review
Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYAA were set to 32791987
Phenotypes for gene: CRYAA were set to Anterior segment dysgenesis
Mode of pathogenicity for gene: CRYAA was set to Other
Review for gene: CRYAA was set to AMBER
Added comment: Variants in this gene are associated with cataract.

Two unrelated individuals reported with elongation variants and a more complex eye phenotype, including bilateral microphthalmia and severe anterior segment dysgenesis, primarily characterized by congenital aphakia, microcornea, and iris hypoplasia/aniridia.
Sources: Expert Review
Eye Anterior Segment Abnormalities v0.47 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250
Eye Anterior Segment Abnormalities v0.47 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Eye Anterior Segment Abnormalities v0.47 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.47 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250
Eye Anterior Segment Abnormalities v0.46 PITX3 Zornitza Stark Publications for gene: PITX3 were set to
Eye Anterior Segment Abnormalities v0.45 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.44 PITX3 Zornitza Stark reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9620774, 29405783, 24555714; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.44 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Eye Anterior Segment Abnormalities v0.44 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Eye Anterior Segment Abnormalities v0.44 COL6A3 Zornitza Stark Classified gene: COL6A3 as Amber List (moderate evidence)
Eye Anterior Segment Abnormalities v0.44 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Eye Anterior Segment Abnormalities v0.43 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Eye Anterior Segment Abnormalities. Sources: Literature
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 33304895
Phenotypes for gene: COL6A3 were set to Peters anomaly
Review for gene: COL6A3 was set to AMBER
Added comment: Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data.
Sources: Literature
Eye Anterior Segment Abnormalities v0.42 PITX2 Zornitza Stark Marked gene: PITX2 as ready
Eye Anterior Segment Abnormalities v0.42 PITX2 Zornitza Stark Gene: pitx2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.42 PITX2 Zornitza Stark Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600; Axenfeld-Rieger syndrome, type 1, MIM# 180500
Eye Anterior Segment Abnormalities v0.41 PITX2 Zornitza Stark Publications for gene: PITX2 were set to
Eye Anterior Segment Abnormalities v0.40 PITX2 Zornitza Stark Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.39 PITX2 Zornitza Stark reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32400113, 31341655, 31185933, 30457409; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600, Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.39 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Eye Anterior Segment Abnormalities v0.39 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.39 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880
Eye Anterior Segment Abnormalities v0.38 PIK3R1 Zornitza Stark Publications for gene: PIK3R1 were set to
Eye Anterior Segment Abnormalities v0.37 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.36 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23810378, 23810379, 23810382; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.36 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Eye Anterior Segment Abnormalities v0.36 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.36 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from to Gillespie syndrome, MIM# 206700
Eye Anterior Segment Abnormalities v0.35 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Eye Anterior Segment Abnormalities v0.34 ITPR1 Zornitza Stark Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.33 ITPR1 Zornitza Stark reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.33 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Eye Anterior Segment Abnormalities v0.33 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.33 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Eye Anterior Segment Abnormalities v0.32 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Eye Anterior Segment Abnormalities v0.31 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.30 FOXE3 Zornitza Stark edited their review of gene: FOXE3: Added comment: Bi-allelic variants in this gene are associated with a range of eye phenotypes, including sclerocornea, aphakia, and microphthalmia, glaucoma, iris coloboma.; Changed publications: 16826526, 27218149, 32499604, 29878917
Eye Anterior Segment Abnormalities v0.29 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.29 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Eye Anterior Segment Abnormalities v0.29 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.29 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from to Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631; Axenfeld-Rieger syndrome, type 3, MIM# 602482
Eye Anterior Segment Abnormalities v0.28 FOXC1 Zornitza Stark Mode of inheritance for gene: FOXC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.27 FOXC1 Zornitza Stark reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631, Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.27 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Eye Anterior Segment Abnormalities v0.27 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.27 GJA8 Zornitza Stark Classified gene: GJA8 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.27 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.26 GJA8 Zornitza Stark gene: GJA8 was added
gene: GJA8 was added to Eye Anterior Segment Abnormalities. Sources: Expert Review
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA8 were set to 30498267; 29464339; 32499604
Phenotypes for gene: GJA8 were set to Cataract 1, multiple types, MIM# 116200; Microphthalmia; Anterior segment dysgenesis
Review for gene: GJA8 was set to GREEN
Added comment: At least 7 individuals reported with microphthalmia as well as cataract and a range of other ocular anomalies including anterior segment dysgenesis.
Sources: Expert Review
Eye Anterior Segment Abnormalities v0.25 CYP1B1 Zornitza Stark Marked gene: CYP1B1 as ready
Eye Anterior Segment Abnormalities v0.25 CYP1B1 Zornitza Stark Gene: cyp1b1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.25 CYP1B1 Zornitza Stark Phenotypes for gene: CYP1B1 were changed from to Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315
Eye Anterior Segment Abnormalities v0.24 CYP1B1 Zornitza Stark Publications for gene: CYP1B1 were set to
Eye Anterior Segment Abnormalities v0.23 CYP1B1 Zornitza Stark Mode of inheritance for gene: CYP1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.22 CYP1B1 Zornitza Stark reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32224865; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.22 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Eye Anterior Segment Abnormalities v0.22 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.22 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932; Anterior segment dysgenesis; Peter's anomaly
Eye Anterior Segment Abnormalities v0.21 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Eye Anterior Segment Abnormalities v0.20 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.19 BMP4 Zornitza Stark edited their review of gene: BMP4: Changed phenotypes: Microphthalmia, syndromic 6, MIM# 607932, Anterior segment dysgenesis, Peter's anomaly
Eye Anterior Segment Abnormalities v0.19 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32224865, 31053785; Phenotypes: Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.19 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Eye Anterior Segment Abnormalities v0.19 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.19 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from to Peters-plus syndrome, MIM# 261540
Eye Anterior Segment Abnormalities v0.18 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Eye Anterior Segment Abnormalities v0.17 B3GLCT Zornitza Stark Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.16 B3GLCT Zornitza Stark reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18798333, 19796186, 32533185, 32204707, 31795264; Phenotypes: Peters-plus syndrome, MIM# 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.16 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Aortopathy_Connective Tissue Disorders v1.9 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome MIM#606145 to Arterial tortuosity syndrome MIM#208050
Aortopathy_Connective Tissue Disorders v1.8 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v1.8 SKI Zornitza Stark Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, MIM#164780 to Shprintzen-Goldberg syndrome, MIM#182212
Aortopathy_Connective Tissue Disorders v1.7 SKI Zornitza Stark edited their review of gene: SKI: Changed rating: GREEN; Changed phenotypes: Shprintzen-Goldberg syndrome, MIM#182212
Aortopathy_Connective Tissue Disorders v1.7 PRKG1 Zornitza Stark Phenotypes for gene: PRKG1 were changed from Aortic aneurysm, familial thoracic 8, MIM#176894 to Aortic aneurysm, familial thoracic 8, MIM#615436
Aortopathy_Connective Tissue Disorders v1.6 PRKG1 Zornitza Stark reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM#615436; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v1.6 PCGF2 Zornitza Stark Phenotypes for gene: PCGF2 were changed from Turnpenny-Fry syndrome, MIM#600346 to Turnpenny-Fry syndrome, MIM#618371
Aortopathy_Connective Tissue Disorders v1.5 PCGF2 Zornitza Stark edited their review of gene: PCGF2: Changed phenotypes: Turnpenny-Fry syndrome, MIM#618371
Aortopathy_Connective Tissue Disorders v1.5 MYLK Zornitza Stark Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, MIM#600922 to Aortic aneurysm, familial thoracic 7, MIM#613780
Aortopathy_Connective Tissue Disorders v1.4 MYLK Zornitza Stark reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v1.4 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 2, MIM#120190 to Ehlers-Danlos syndrome, classic type, 2, MIM#130010
Aortopathy_Connective Tissue Disorders v1.3 COL5A2 Zornitza Stark edited their review of gene: COL5A2: Changed rating: GREEN
Aortopathy_Connective Tissue Disorders v1.3 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2, MIM#130010; Mode of inheritance: None
Dystonia and Chorea v0.158 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Dystonia and Chorea v0.157 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement
Intellectual disability syndromic and non-syndromic v0.3360 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Intellectual disability syndromic and non-syndromic v0.3359 YIF1B Zornitza Stark reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.987 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Genetic Epilepsy v0.986 YIF1B Zornitza Stark reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.514 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Microcephaly v0.513 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement
Mendeliome v0.5861 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Mendeliome v0.5860 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement
Regression v0.228 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Regression v0.228 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Regression v0.228 BSCL2 Zornitza Stark Classified gene: BSCL2 as Green List (high evidence)
Regression v0.228 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Regression v0.227 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 23564749; 27452399
Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy 615924
Review for gene: BSCL2 was set to GREEN
Added comment: Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance.

At least 5 unrelated families reported. The recurrent c.985C-T variant causes skipping of exon 7 (founder effect).
Sources: Expert Review
Mendeliome v0.5860 GSTO1 Zornitza Stark Marked gene: GSTO1 as ready
Mendeliome v0.5860 GSTO1 Zornitza Stark Gene: gsto1 has been classified as Red List (Low Evidence).
Mendeliome v0.5860 GSTO1 Zornitza Stark Phenotypes for gene: GSTO1 were changed from to Deficiency of Human Glutathione Transferase Omega 1
Mendeliome v0.5859 GSTO1 Zornitza Stark Publications for gene: GSTO1 were set to
Mendeliome v0.5858 GSTO1 Zornitza Stark Classified gene: GSTO1 as Red List (low evidence)
Mendeliome v0.5858 GSTO1 Zornitza Stark Gene: gsto1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.190 PRPS1 Lilian Downie reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Additional findings_Paediatric v0.190 PLS1 Lilian Downie gene: PLS1 was added
gene: PLS1 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Deafness_isolated list
Sources: Expert list
Additional findings_Paediatric v0.190 OTOG Lilian Downie reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 OSBPL2 Lilian Downie gene: OSBPL2 was added
gene: OSBPL2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: OSBPL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSBPL2 were set to Deafness, autosomal dominant 67, MIM# 616340
Review for gene: OSBPL2 was set to GREEN
Added comment: From deafness_isolated
Sources: Expert list
Additional findings_Paediatric v0.190 MSRB3 Lilian Downie reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 MPZL2 Lilian Downie gene: MPZL2 was added
gene: MPZL2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145
Review for gene: MPZL2 was set to GREEN
Added comment: From deafness_isolated
Sources: Expert list
Additional findings_Paediatric v0.190 LMX1A Lilian Downie gene: LMX1A was added
gene: LMX1A was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMX1A were set to Deafness MIM#601412
Added comment: Can be paediatric or adult onset ?inclusion
Sources: Expert list
Additional findings_Paediatric v0.190 KCNQ1 Lilian Downie reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5857 GSTO1 Elena Savva reviewed gene: GSTO1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21106529; Phenotypes: Deficiency of Human Glutathione Transferase Omega 1; Mode of inheritance: None
Anophthalmia_Microphthalmia_Coloboma v1.0 Zornitza Stark promoted panel to version 1.0
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM#175780
Anophthalmia_Microphthalmia_Coloboma v0.208 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.207 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.206 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24628545; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Walker-Walburg syndrome
Anophthalmia_Microphthalmia_Coloboma v0.205 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.204 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Walker-Walburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Marked gene: OCRL as ready
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Lowe syndrome, MIM# 309000
Anophthalmia_Microphthalmia_Coloboma v0.203 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.202 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Marked gene: NDP as ready
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease, MIM# 310600
Anophthalmia_Microphthalmia_Coloboma v0.201 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.200 NDP Zornitza Stark reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5857 NAA10 Zornitza Stark Tag 5'UTR tag was added to gene: NAA10.
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Tag 5'UTR tag was added to gene: NAA10.
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800
Anophthalmia_Microphthalmia_Coloboma v0.199 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Anophthalmia_Microphthalmia_Coloboma v0.198 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.197 NAA10 Zornitza Stark reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842225, 24431331; Phenotypes: Microphthalmia, syndromic 1, MIM# 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.196 PITX3 Zornitza Stark Publications for gene: PITX3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.195 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.194 PITX3 Zornitza Stark reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29405783; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250, Cataract 11, multiple types, MIM# 610623, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Mendeliome v0.5857 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Mendeliome v0.5857 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Mendeliome v0.5857 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from to Intellectual disability; Iris abnormalities; Complex microphthalmia
Mendeliome v0.5856 PRR12 Zornitza Stark Publications for gene: PRR12 were set to
Mendeliome v0.5855 PRR12 Zornitza Stark Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from to Complex microphthalmia
Mendeliome v0.5854 PRR12 Zornitza Stark reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Intellectual disability, Iris abnormalities, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.193 PRR12 Zornitza Stark Publications for gene: PRR12 were set to
Anophthalmia_Microphthalmia_Coloboma v0.192 PRR12 Zornitza Stark Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.191 PRR12 Zornitza Stark reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5854 PRSS56 Zornitza Stark Marked gene: PRSS56 as ready
Mendeliome v0.5854 PRSS56 Zornitza Stark Gene: prss56 has been classified as Green List (High Evidence).
Mendeliome v0.5854 PRSS56 Zornitza Stark Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517
Mendeliome v0.5853 PRSS56 Zornitza Stark Publications for gene: PRSS56 were set to
Mendeliome v0.5852 PRSS56 Zornitza Stark Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5851 PRSS56 Zornitza Stark reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Marked gene: PRSS56 as ready
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Gene: prss56 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517
Anophthalmia_Microphthalmia_Coloboma v0.190 PRSS56 Zornitza Stark Publications for gene: PRSS56 were set to
Anophthalmia_Microphthalmia_Coloboma v0.189 PRSS56 Zornitza Stark Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Tag SV/CNV tag was added to gene: HCCS.
Anophthalmia_Microphthalmia_Coloboma v0.188 PRSS56 Zornitza Stark reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Marked gene: HCCS as ready
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Anophthalmia_Microphthalmia_Coloboma v0.187 HCCS Zornitza Stark Publications for gene: HCCS were set to
Anophthalmia_Microphthalmia_Coloboma v0.186 HCCS Zornitza Stark Mode of inheritance for gene: HCCS 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)
Anophthalmia_Microphthalmia_Coloboma v0.185 HCCS Zornitza Stark reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033964, 30068298, 24735900; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.257 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from Cataract 1, multiple types, MIM# 116200; Microphthalmia to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Cataract v0.257 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Cataract v0.257 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Cataract v0.257 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Cataract v0.256 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Cataract v0.255 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.254 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5851 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Mendeliome v0.5851 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Mendeliome v0.5851 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Mendeliome v0.5850 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Mendeliome v0.5849 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5848 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.184 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Anophthalmia_Microphthalmia_Coloboma v0.183 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.182 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, MIM# 308300
Anophthalmia_Microphthalmia_Coloboma v0.181 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG 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)
Anophthalmia_Microphthalmia_Coloboma v0.180 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Incontinentia pigmenti, MIM# 308300; 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 v0.5848 ATIC Zornitza Stark Marked gene: ATIC as ready
Mendeliome v0.5848 ATIC Zornitza Stark Gene: atic has been classified as Green List (High Evidence).
Mendeliome v0.5848 ATIC Zornitza Stark Phenotypes for gene: ATIC were changed from to AICA-ribosiduria due to ATIC deficiency, MIM# 608688
Mendeliome v0.5847 ATIC Zornitza Stark Publications for gene: ATIC were set to
Mendeliome v0.5846 ATIC Zornitza Stark Mode of inheritance for gene: ATIC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3359 ATIC Zornitza Stark Marked gene: ATIC as ready
Intellectual disability syndromic and non-syndromic v0.3359 ATIC Zornitza Stark Gene: atic has been classified as Green List (High Evidence).
Mendeliome v0.5845 ATIC Zornitza Stark reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15114530, 32557644; Phenotypes: AICA-ribosiduria due to ATIC deficiency, MIM# 608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3359 ATIC Zornitza Stark Phenotypes for gene: ATIC were changed from to AICA-ribosiduria due to ATIC deficiency, MIM# 608688
Intellectual disability syndromic and non-syndromic v0.3358 ATIC Zornitza Stark Publications for gene: ATIC were set to
Intellectual disability syndromic and non-syndromic v0.3357 ATIC Zornitza Stark Mode of inheritance for gene: ATIC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3356 ATIC Zornitza Stark reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15114530, 32557644; Phenotypes: AICA-ribosiduria due to ATIC deficiency, MIM# 608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.180 MITF Zornitza Stark Publications for gene: MITF were set to
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Marked gene: MITF as ready
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark changed review comment from: Well established gene-disease association, multiple families and animal models.; to: Waardenburg syndrome: Well established gene-disease association, multiple families and animal models.
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark edited their review of gene: MITF: Changed phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg syndrome, type 2A, MIM# 193510 to Waardenburg syndrome, type 2A, MIM# 193510; Deafness
Deafness_IsolatedAndComplex v1.42 MITF Zornitza Stark Publications for gene: MITF were set to 7874167; 23512835; 27759048; 28356565; 9499424; 27349893
Deafness_IsolatedAndComplex v1.41 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.40 MITF Zornitza Stark edited their review of gene: MITF: Added comment: PMID 32728090: two families reported with bi-allelic variants and isolated deafness.; Changed publications: 7874167, 23512835, 27759048, 28356565, 9499424, 27349893, 32728090; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Phenotypes for gene: MITF were changed from to COMMAD syndrome, MIM# 617306
Anophthalmia_Microphthalmia_Coloboma v0.178 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.177 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889061, 32541011; Phenotypes: COMMAD syndrome, MIM# 617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
Anophthalmia_Microphthalmia_Coloboma v0.176 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.175 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.174 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19338053; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Anophthalmia_Microphthalmia_Coloboma v0.173 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.172 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.171 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27218149, 21150893, 31884615, 29878917, 29713869; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Anophthalmia_Microphthalmia_Coloboma v0.170 TFAP2A Zornitza Stark Publications for gene: TFAP2A were set to
Anophthalmia_Microphthalmia_Coloboma v0.169 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.168 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19206157, 19685247, 20358615, 32766183, 24783654; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663
Anophthalmia_Microphthalmia_Coloboma v0.167 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Anophthalmia_Microphthalmia_Coloboma v0.166 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.165 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM# 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.164 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP2 were set to 32015000
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804
Review for gene: CDK5RAP2 was set to GREEN
Added comment: Microphthalmia is a feature.
Sources: Literature
Mendeliome v0.5845 FZD5 Zornitza Stark Marked gene: FZD5 as ready
Mendeliome v0.5845 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Mendeliome v0.5845 FZD5 Zornitza Stark Classified gene: FZD5 as Green List (high evidence)
Mendeliome v0.5845 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Mendeliome v0.5844 FZD5 Zornitza Stark gene: FZD5 was added
gene: FZD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 32737437; 26908622
Phenotypes for gene: FZD5 were set to Coloboma
Review for gene: FZD5 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Marked gene: FZD5 as ready
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Classified gene: FZD5 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.162 FZD5 Zornitza Stark gene: FZD5 was added
gene: FZD5 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 32737437; 26908622
Phenotypes for gene: FZD5 were set to Coloboma
Review for gene: FZD5 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Classified gene: FAM111A as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.160 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111A were set to 32996714; 23684011
Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM@ 127000
Review for gene: FAM111A was set to GREEN
Added comment: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia.
Sources: Literature
Mendeliome v0.5843 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Mendeliome v0.5843 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Mendeliome v0.5843 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, isolated, with coloboma 8, MIM# 601186; Microphthalmia, syndromic 9, MIM# 601186
Mendeliome v0.5842 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Mendeliome v0.5841 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5840 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8, MIM# 601186, Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, isolated, with coloboma 8, MIM# 601186; Microphthalmia, syndromic 9, MIM# 601186
Anophthalmia_Microphthalmia_Coloboma v0.158 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.157 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.156 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8, MIM# 601186, Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3356 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Intellectual disability syndromic and non-syndromic v0.3356 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Mendeliome v0.5840 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Mendeliome v0.5840 SOX2 Zornitza Stark Gene: sox2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3355 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Intellectual disability syndromic and non-syndromic v0.3354 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3353 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5840 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Mendeliome v0.5839 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Mendeliome v0.5838 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5837 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5837 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Mendeliome v0.5837 SIX6 Zornitza Stark Gene: six6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Gene: sox2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Anophthalmia_Microphthalmia_Coloboma v0.155 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.154 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.153 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5837 SIX6 Zornitza Stark Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Gene: six6 has been classified as Green List (High Evidence).
Mendeliome v0.5836 SIX6 Zornitza Stark Publications for gene: SIX6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Mendeliome v0.5835 SIX6 Zornitza Stark Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5834 SIX6 Zornitza Stark reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23167593, 24702266, 33108933, 31207931, 24702266; Phenotypes: Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.152 SIX6 Zornitza Stark Publications for gene: SIX6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.151 SIX6 Zornitza Stark Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX6 Zornitza Stark reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23167593, 24702266, 33108933, 31207931, 24702266; Phenotypes: Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Gene: six3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM# 157170
Anophthalmia_Microphthalmia_Coloboma v0.149 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.148 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.147 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Marked gene: SHH as ready
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Microphthalmia with coloboma 5, MIM# 611638; Holoprosencephaly 3, MIM# 142945
Anophthalmia_Microphthalmia_Coloboma v0.146 SHH Zornitza Stark Publications for gene: SHH were set to
Anophthalmia_Microphthalmia_Coloboma v0.145 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.144 SHH Zornitza Stark reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454, 12503095; Phenotypes: Microphthalmia with coloboma 5, MIM# 611638, Holoprosencephaly 3, MIM# 142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.127 RERE Zornitza Stark Marked gene: RERE as ready
Autism v0.127 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Autism v0.127 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Autism v0.126 RERE Zornitza Stark Publications for gene: RERE were set to
Autism v0.125 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.124 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.21 RERE Zornitza Stark Marked gene: RERE as ready
Blepharophimosis v0.21 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Blepharophimosis v0.21 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Blepharophimosis v0.20 RERE Zornitza Stark Publications for gene: RERE were set to
Blepharophimosis v0.19 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.18 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3353 RERE Zornitza Stark Marked gene: RERE as ready
Intellectual disability syndromic and non-syndromic v0.3353 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3353 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Intellectual disability syndromic and non-syndromic v0.3352 RERE Zornitza Stark Publications for gene: RERE were set to
Intellectual disability syndromic and non-syndromic v0.3351 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3350 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5834 RERE Zornitza Stark Marked gene: RERE as ready
Mendeliome v0.5834 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Mendeliome v0.5834 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Mendeliome v0.5833 RERE Zornitza Stark Publications for gene: RERE were set to
Mendeliome v0.5832 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5831 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Marked gene: RERE as ready
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Anophthalmia_Microphthalmia_Coloboma v0.143 RERE Zornitza Stark Publications for gene: RERE were set to
Anophthalmia_Microphthalmia_Coloboma v0.142 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.141 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5831 IKZF5 Zornitza Stark Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130
Mendeliome v0.5830 IKZF5 Zornitza Stark edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130
Bleeding and Platelet Disorders v0.209 IKZF5 Zornitza Stark Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130
Bleeding and Platelet Disorders v0.208 IKZF5 Zornitza Stark edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130
Anophthalmia_Microphthalmia_Coloboma v0.141 ABCB6 Zornitza Stark Marked gene: ABCB6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.141 ABCB6 Zornitza Stark Gene: abcb6 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Marked gene: RAX as ready
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, MIM# 611038
Mendeliome v0.5830 RAX Zornitza Stark Marked gene: RAX as ready
Mendeliome v0.5830 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Mendeliome v0.5830 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, MIM# 611038 to Microphthalmia, isolated 3, MIM# 611038
Mendeliome v0.5829 RAX Zornitza Stark Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, MIM# 611038
Mendeliome v0.5828 RAX Zornitza Stark Publications for gene: RAX were set to
Mendeliome v0.5827 RAX Zornitza Stark Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.140 RAX Zornitza Stark Publications for gene: RAX were set to
Mendeliome v0.5826 RAX Zornitza Stark reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14662654, 18783408, 30811539, 24033328, 22524605; Phenotypes: Microphthalmia, isolated 3, MIM# 611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.139 RAX Zornitza Stark Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.138 RAX Zornitza Stark reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14662654, 18783408, 30811539, 24033328, 22524605; Phenotypes: Microphthalmia, isolated 3, MIM# 611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark Marked gene: RARA as ready
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark Gene: rara has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark gene: RARA was added
gene: RARA was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RARA were set to 31343737
Phenotypes for gene: RARA were set to Syndromic chorioretinal coloboma
Review for gene: RARA was set to RED
Added comment: Single case report of de novo missense variant in association with syndromic coloboma.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3350 RARB Zornitza Stark Marked gene: RARB as ready
Intellectual disability syndromic and non-syndromic v0.3350 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3350 RARB Zornitza Stark Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524
Intellectual disability syndromic and non-syndromic v0.3349 RARB Zornitza Stark Publications for gene: RARB were set to
Intellectual disability syndromic and non-syndromic v0.3348 RARB Zornitza Stark Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3347 RARB Zornitza Stark reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5826 RARB Zornitza Stark Marked gene: RARB as ready
Mendeliome v0.5826 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Mendeliome v0.5826 RARB Zornitza Stark Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524
Mendeliome v0.5825 RARB Zornitza Stark Publications for gene: RARB were set to
Mendeliome v0.5824 RARB Zornitza Stark Mode of pathogenicity for gene: RARB was changed from to Other
Mendeliome v0.5823 RARB Zornitza Stark Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5822 RARB Zornitza Stark reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Marked gene: RARB as ready
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524
Anophthalmia_Microphthalmia_Coloboma v0.136 RARB Zornitza Stark Publications for gene: RARB were set to
Anophthalmia_Microphthalmia_Coloboma v0.135 RARB Zornitza Stark Mode of pathogenicity for gene: RARB was changed from to Other
Anophthalmia_Microphthalmia_Coloboma v0.134 RARB Zornitza Stark Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.133 RARB Zornitza Stark reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5822 RARA Zornitza Stark Phenotypes for gene: RARA were changed from to Syndromic chorioretinal coloboma
Mendeliome v0.5821 RARA Zornitza Stark Publications for gene: RARA were set to
Mendeliome v0.5820 RARA Zornitza Stark Mode of inheritance for gene: RARA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5819 RARA Zornitza Stark Deleted their comment
Mendeliome v0.5819 RARA Zornitza Stark edited their review of gene: RARA: Added comment: Single case report of de novo missense variant in association with syndromic coloboma.; Changed publications: 31343737; Changed phenotypes: Syndromic chorioretinal coloboma
Cataract v0.254 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Cataract v0.254 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Cataract v0.254 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2, MIM# 614225
Cataract v0.253 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Cataract v0.252 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.251 RAB3GAP2 Zornitza Stark changed review comment from: Multiple families reported, well established gene-disease association.; to: Multiple families reported, well established gene-disease association. Cataract is a feature.
Cataract v0.251 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome to Warburg micro syndrome 2, MIM# 614225
Additional findings_Paediatric v0.189 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Additional findings_Paediatric v0.188 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Green List (high evidence)
Additional findings_Paediatric v0.188 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.187 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2, MIM# 614225
Anophthalmia_Microphthalmia_Coloboma v0.132 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.131 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.251 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118
Cataract v0.251 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Cataract v0.251 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Cataract v0.251 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Cataract v0.250 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Cataract v0.249 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Cataract v0.248 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.129 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.128 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.127 RAB3GAP1 Zornitza Stark changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Multiple families reported.; to: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.
Anophthalmia_Microphthalmia_Coloboma v0.127 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5819 PXDN Zornitza Stark Marked gene: PXDN as ready
Mendeliome v0.5819 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Mendeliome v0.5819 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Mendeliome v0.5818 PXDN Zornitza Stark Publications for gene: PXDN were set to
Mendeliome v0.5817 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5816 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.248 PXDN Zornitza Stark Marked gene: PXDN as ready
Cataract v0.248 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Cataract v0.248 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Cataract v0.247 PXDN Zornitza Stark Publications for gene: PXDN were set to
Cataract v0.246 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.245 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.15 PXDN Zornitza Stark Marked gene: PXDN as ready
Eye Anterior Segment Abnormalities v0.15 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.15 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Eye Anterior Segment Abnormalities v0.14 PXDN Zornitza Stark Publications for gene: PXDN were set to
Eye Anterior Segment Abnormalities v0.13 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.12 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Marked gene: PXDN as ready
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Anophthalmia_Microphthalmia_Coloboma v0.126 PXDN Zornitza Stark Publications for gene: PXDN were set to
Anophthalmia_Microphthalmia_Coloboma v0.125 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.124 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to Microphthalmia; Coloboma, ocular, MIM# 120200
Anophthalmia_Microphthalmia_Coloboma v0.123 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.122 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700164, 30986449, 29930474, 22171686; Phenotypes: Microphthalmia, Coloboma, ocular, MIM# 120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352
Anophthalmia_Microphthalmia_Coloboma v0.120 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.119 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.118 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654726; Phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3347 SMOC1 Zornitza Stark Marked gene: SMOC1 as ready
Intellectual disability syndromic and non-syndromic v0.3347 SMOC1 Zornitza Stark Gene: smoc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3347 SMOC1 Zornitza Stark Phenotypes for gene: SMOC1 were changed from to Microphthalmia with limb anomalies, MIM# 206920
Intellectual disability syndromic and non-syndromic v0.3346 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Intellectual disability syndromic and non-syndromic v0.3345 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3344 SMOC1 Zornitza Stark reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Marked gene: SMOC1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Gene: smoc1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Phenotypes for gene: SMOC1 were changed from to Microphthalmia with limb anomalies, MIM# 206920
Mendeliome v0.5816 SMOC1 Zornitza Stark Marked gene: SMOC1 as ready
Mendeliome v0.5816 SMOC1 Zornitza Stark Gene: smoc1 has been classified as Green List (High Evidence).
Mendeliome v0.5816 SMOC1 Zornitza Stark Phenotypes for gene: SMOC1 were changed from to Microphthalmia with limb anomalies, MIM# 206920
Mendeliome v0.5815 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Mendeliome v0.5814 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.117 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Mendeliome v0.5813 SMOC1 Zornitza Stark reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.116 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.115 SMOC1 Zornitza Stark reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Marked gene: NHS as ready
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome, MIM# 302350
Anophthalmia_Microphthalmia_Coloboma v0.114 NHS Zornitza Stark Mode of inheritance for gene: NHS 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)
Anophthalmia_Microphthalmia_Coloboma v0.113 NHS Zornitza Stark reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome, MIM# 302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Gene: hesx1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from to Septooptic dysplasia, MIM# 182230
Anophthalmia_Microphthalmia_Coloboma v0.112 HESX1 Zornitza Stark Publications for gene: HESX1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.111 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.110 HESX1 Zornitza Stark Classified gene: HESX1 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v0.110 HESX1 Zornitza Stark Gene: hesx1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.109 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: RED; Mode of pathogenicity: None; Publications: 11136712; Phenotypes: Septooptic dysplasia, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5813 MFRP Zornitza Stark Marked gene: MFRP as ready
Mendeliome v0.5813 MFRP Zornitza Stark Gene: mfrp has been classified as Green List (High Evidence).
Mendeliome v0.5813 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Mendeliome v0.5812 MFRP Zornitza Stark Publications for gene: MFRP were set to
Mendeliome v0.5811 MFRP Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5810 MFRP Zornitza Stark reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Marked gene: MFRP as ready
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Gene: mfrp has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Anophthalmia_Microphthalmia_Coloboma v0.108 MFRP Zornitza Stark Publications for gene: MFRP were set to
Anophthalmia_Microphthalmia_Coloboma v0.107 MFRP Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.106 MFRP Zornitza Stark reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3344 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Intellectual disability syndromic and non-syndromic v0.3344 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3344 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Intellectual disability syndromic and non-syndromic v0.3343 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Intellectual disability syndromic and non-syndromic v0.3342 MAB21L2 Zornitza Stark Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3341 MAB21L2 Zornitza Stark reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5810 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Mendeliome v0.5810 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Mendeliome v0.5810 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Mendeliome v0.5809 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Mendeliome v0.5808 MAB21L2 Zornitza Stark Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5807 MAB21L2 Zornitza Stark changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.
Mendeliome v0.5807 MAB21L2 Zornitza Stark reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Anophthalmia_Microphthalmia_Coloboma v0.105 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.104 MAB21L2 Zornitza Stark Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.103 MAB21L2 Zornitza Stark reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.226 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Regression v0.226 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Red List (Low Evidence).
Regression v0.226 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Regression v0.225 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Regression v0.224 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.223 PDSS1 Zornitza Stark Classified gene: PDSS1 as Red List (low evidence)
Regression v0.223 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Red List (Low Evidence).
Regression v0.222 PDSS1 Zornitza Stark reviewed gene: PDSS1: Rating: RED; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3341 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Intellectual disability syndromic and non-syndromic v0.3341 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3341 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Intellectual disability syndromic and non-syndromic v0.3340 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Intellectual disability syndromic and non-syndromic v0.3339 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5807 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Mendeliome v0.5807 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Mendeliome v0.5807 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Mendeliome v0.5806 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Mendeliome v0.5805 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Mitochondrial disease v0.562 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Mitochondrial disease v0.561 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.20 POLR1A Zornitza Stark Marked gene: POLR1A as ready
Mandibulofacial Acrofacial dysostosis v0.20 POLR1A Zornitza Stark Gene: polr1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3338 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.560 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.5804 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mandibulofacial Acrofacial dysostosis v0.20 POLR1A Zornitza Stark Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, MIM# 616462
Mandibulofacial Acrofacial dysostosis v0.19 POLR1A Zornitza Stark Publications for gene: POLR1A were set to 25913037
Mandibulofacial Acrofacial dysostosis v0.19 POLR1A Zornitza Stark Publications for gene: POLR1A were set to
Mandibulofacial Acrofacial dysostosis v0.18 POLR1A Zornitza Stark Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.17 POLR1A Zornitza Stark reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037; Phenotypes: Acrofacial dysostosis, Cincinnati type, MIM# 616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5804 POLR1A Zornitza Stark Marked gene: POLR1A as ready
Mendeliome v0.5804 POLR1A Zornitza Stark Added comment: Comment when marking as ready: Limited evidence for the association between bi-allelic variants and leukodystrophy.
Mendeliome v0.5804 POLR1A Zornitza Stark Gene: polr1a has been classified as Green List (High Evidence).
Mendeliome v0.5804 POLR1A Zornitza Stark Phenotypes for gene: POLR1A were changed from Acrofacial dysostosis, Cincinnati type, (MIM#616462) to Acrofacial dysostosis, Cincinnati type, (MIM#616462); Leukodystrophy
Mendeliome v0.5803 POLR1A Zornitza Stark Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, (MIM#616462)
Mendeliome v0.5802 POLR1A Zornitza Stark Publications for gene: POLR1A were set to
Mendeliome v0.5801 POLR1A Zornitza Stark Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5800 POLR1A Ain Roesley reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5800 LOXL3 Zornitza Stark Marked gene: LOXL3 as ready
Mendeliome v0.5800 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5800 LOXL3 Zornitza Stark Classified gene: LOXL3 as Amber List (moderate evidence)
Mendeliome v0.5800 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5799 LOXL3 Zornitza Stark gene: LOXL3 was added
gene: LOXL3 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 30362103; 25663169
Phenotypes for gene: LOXL3 were set to Stickler syndrome
Review for gene: LOXL3 was set to AMBER
Added comment: Two unrelated families reported with homozygous missense variants, mouse model supports gene-disease association.
Sources: Expert Review
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome (MIM#603457)
Anophthalmia_Microphthalmia_Coloboma v0.102 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.101 SMCHD1 Zornitza Stark Mode of pathogenicity for gene: SMCHD1 was changed from to Other
Anophthalmia_Microphthalmia_Coloboma v0.100 SMCHD1 Zornitza Stark Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5798 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Mendeliome v0.5798 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Mendeliome v0.5798 RBP4 Zornitza Stark Phenotypes for gene: RBP4 were changed from to Microphthalmia, isolated, with coloboma 10 MIM#616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
Mendeliome v0.5797 RBP4 Zornitza Stark Publications for gene: RBP4 were set to
Mendeliome v0.5796 RBP4 Zornitza Stark Mode of inheritance for gene: RBP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5795 RBP4 Zornitza Stark reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25910211, 29178648, 23189188, 9888420, 32323592; Phenotypes: Microphthalmia, isolated, with coloboma 10 MIM#616428, Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.99 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.99 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Callosome v0.240 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Callosome v0.240 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Callosome v0.240 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Callosome v0.239 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Callosome v0.238 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.237 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Callosome v0.237 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Callosome v0.236 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5795 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Mendeliome v0.5795 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Mendeliome v0.5795 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Mendeliome v0.5794 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Mendeliome v0.5793 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5792 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Mendeliome v0.5792 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Mendeliome v0.5791 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Anophthalmia_Microphthalmia_Coloboma v0.98 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.97 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.96 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v0.96 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.95 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5791 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Mendeliome v0.5791 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Mendeliome v0.5791 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Mendeliome v0.5790 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Mendeliome v0.5789 VSX2 Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5788 VSX2 Zornitza Stark reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 17661825, 31884615, 28121235, 27301076, 24033328; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Anophthalmia_Microphthalmia_Coloboma v0.94 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.93 VSX2 Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.92 VSX2 Zornitza Stark reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 17661825, 31884615, 28121235, 27301076, 24033328; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.986 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Genetic Epilepsy v0.986 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.986 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome, MIM# 618652
Genetic Epilepsy v0.985 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Genetic Epilepsy v0.984 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.983 WDR37 Zornitza Stark reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM# 618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5788 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Mendeliome v0.5788 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Mendeliome v0.5788 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome, MIM# 618652
Mendeliome v0.5787 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Mendeliome v0.5786 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5785 WDR37 Zornitza Stark reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM# 618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome, MIM# 618652
Anophthalmia_Microphthalmia_Coloboma v0.91 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Anophthalmia_Microphthalmia_Coloboma v0.90 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.89 WDR37 Zornitza Stark reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM# 618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800
Anophthalmia_Microphthalmia_Coloboma v0.88 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.87 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932
Anophthalmia_Microphthalmia_Coloboma v0.86 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Anophthalmia_Microphthalmia_Coloboma v0.85 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.84 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21340693, 31053785; Phenotypes: Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039
Anophthalmia_Microphthalmia_Coloboma v0.83 ASXL1 Zornitza Stark Publications for gene: ASXL1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.82 ASXL1 Zornitza Stark Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.81 ASXL1 Zornitza Stark reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29446906; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Phenotypes for gene: ALDH1A3 were changed from to Microphthalmia, isolated 8, MIM# 615113
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Phenotypes for gene: ALDH1A3 were changed from to Microphthalmia, isolated 8, MIM# 615113
Mendeliome v0.5784 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Mendeliome v0.5783 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5782 ALDH1A3 Zornitza Stark reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 23591992, 30200890, 28890889, 26873617, 24777706; Phenotypes: Microphthalmia, isolated 8, MIM# 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.80 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.79 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.79 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.78 ALDH1A3 Zornitza Stark reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 23591992, 30200890, 28890889, 26873617, 24777706; Phenotypes: Microphthalmia, isolated 8, MIM# 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3338 C16orf62 Zornitza Stark Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Intellectual disability syndromic and non-syndromic v0.3337 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Anophthalmia_Microphthalmia_Coloboma v0.78 C16orf62 Zornitza Stark Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Anophthalmia_Microphthalmia_Coloboma v0.77 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Mendeliome v0.5782 C16orf62 Zornitza Stark Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Mendeliome v0.5781 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Mendeliome v0.5781 VEGFC Zornitza Stark Marked gene: VEGFC as ready
Mendeliome v0.5781 VEGFC Zornitza Stark Gene: vegfc has been classified as Green List (High Evidence).
Mendeliome v0.5781 VEGFC Zornitza Stark Phenotypes for gene: VEGFC were changed from to Lymphatic malformation 4, MIM#615907
Mendeliome v0.5780 VEGFC Zornitza Stark Publications for gene: VEGFC were set to
Mendeliome v0.5779 VEGFC Zornitza Stark Mode of inheritance for gene: VEGFC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.35 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Brain Channelopathies v0.35 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Brain Channelopathies v0.35 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290
Brain Channelopathies v0.34 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Brain Channelopathies v0.33 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.32 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15174025, 15286158, 33126486, 31766058, 24097848; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5778 VEGFC Elena Savva reviewed gene: VEGFC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23410910, 24744435, 30071673; Phenotypes: Lymphatic malformation 4, MIM#615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Osteogenesis Imperfecta and Osteoporosis v0.55 KDELR2 Zornitza Stark Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM# 619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms
Osteogenesis Imperfecta and Osteoporosis v0.54 KDELR2 Zornitza Stark edited their review of gene: KDELR2: Changed phenotypes: Osteogenesis imperfecta 21, MIM# 619131, Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms
Mendeliome v0.5778 KDELR2 Zornitza Stark Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM# 619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms
Mendeliome v0.5777 KDELR2 Zornitza Stark edited their review of gene: KDELR2: Changed phenotypes: Osteogenesis imperfecta 21, MIM# 619131, Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms
Intellectual disability syndromic and non-syndromic v0.3337 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124
Intellectual disability syndromic and non-syndromic v0.3336 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v0.5777 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 89, MIM# 619124
Mendeliome v0.5776 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy 89, MIM# 619124
Genetic Epilepsy v0.983 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 89, MIM# 619124
Genetic Epilepsy v0.982 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed phenotypes: Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v0.5776 TET2 Zornitza Stark Phenotypes for gene: TET2 were changed from Dementia; Lymphoma/myeloid malignancy; Immunodeficiency to Dementia; Lymphoma/myeloid malignancy; Immunodeficiency-75 (IMD75), MIM#619126
Mendeliome v0.5775 TET2 Zornitza Stark edited their review of gene: TET2: Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency-75 (IMD75), MIM#619126
Disorders of immune dysregulation v0.73 TET2 Zornitza Stark Phenotypes for gene: TET2 were changed from Immune dysregulation; Lymphoma to Immune dysregulation; Lymphoma; Immunodeficiency-75 (IMD75), MIM#619126
Disorders of immune dysregulation v0.72 TET2 Zornitza Stark edited their review of gene: TET2: Changed phenotypes: Immune dysregulation, Lymphoma, Immunodeficiency-75 (IMD75), MIM#619126
Mendeliome v0.5775 NSD1 Chern Lim reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16010675, 15942875; Phenotypes: Sotos syndrome 1 (MIM#117550), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brain Calcification v1.2 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Brain Calcification v1.2 TREM2 Zornitza Stark Gene: trem2 has been classified as Green List (High Evidence).
Brain Calcification v1.2 TREM2 Zornitza Stark Classified gene: TREM2 as Green List (high evidence)
Brain Calcification v1.2 TREM2 Zornitza Stark Gene: trem2 has been classified as Green List (High Evidence).
Brain Calcification v1.1 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREM2 were set to 12080485; 15883308
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193
Review for gene: TREM2 was set to GREEN
Added comment: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years. More than 5 unrelated families reported.
Sources: Expert list
Brain Calcification v1.0 Zornitza Stark promoted panel to version 1.0
Brain Calcification v0.90 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Brain Calcification v0.90 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Brain Calcification v0.90 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM# 175780
Brain Calcification v0.89 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.88 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5775 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Mendeliome v0.5775 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Mendeliome v0.5775 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Mendeliome v0.5774 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Mendeliome v0.5773 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5772 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.88 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Brain Calcification v0.88 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Brain Calcification v0.88 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Brain Calcification v0.88 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.87 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Brain Calcification v0.86 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.86 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Brain Calcification v0.86 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Brain Calcification v0.86 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4, MIM# 610333
Brain Calcification v0.85 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Brain Calcification v0.84 RNASEH2A Zornitza Stark Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.83 RNASEH2A Zornitza Stark reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17846997, 16845400, 23592335, 27643693; Phenotypes: Aicardi-Goutieres syndrome 4, MIM# 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.83 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Brain Calcification v0.83 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Brain Calcification v0.83 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from to Basal ganglia calcification, idiopathic, 4, MIM# 615007
Brain Calcification v0.82 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to
Brain Calcification v0.81 PDGFRB Zornitza Stark Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.80 PDGFRB Zornitza Stark reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31004414, 30979360, 32613555; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.80 PDGFB Zornitza Stark changed review comment from: Well established gene-disease association.; to: Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some individuals are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive. Multiple families reported.
Brain Calcification v0.80 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Brain Calcification v0.80 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Brain Calcification v0.80 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5 , MIM#615483
Mendeliome v0.5772 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Mendeliome v0.5772 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Mendeliome v0.5772 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5 , MIM#615483
Mendeliome v0.5771 PDGFB Zornitza Stark Publications for gene: PDGFB were set to
Mendeliome v0.5770 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5769 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003, 30952898, 30609140; Phenotypes: Basal ganglia calcification, idiopathic, 5 , MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.79 PDGFB Zornitza Stark Publications for gene: PDGFB were set to
Brain Calcification v0.78 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.77 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.76 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003, 30952898, 30609140; Phenotypes: Basal ganglia calcification, idiopathic, 5 , MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.76 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Brain Calcification v0.76 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Brain Calcification v0.76 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3, MIM# 610329
Brain Calcification v0.75 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Brain Calcification v0.74 RNASEH2C Zornitza Stark Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.73 RNASEH2C Zornitza Stark reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 29239743, 29150899, 27643693; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.73 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Brain Calcification v0.73 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Brain Calcification v0.73 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Brain Calcification v0.72 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Brain Calcification v0.71 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.70 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.70 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Brain Calcification v0.70 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Brain Calcification v0.70 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
Brain Calcification v0.69 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Brain Calcification v0.68 TREX1 Zornitza Stark Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v0.67 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17846997; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v0.67 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Brain Calcification v0.67 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Brain Calcification v0.67 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400
Brain Calcification v0.66 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Brain Calcification v0.65 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.64 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26204423; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.92 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Congenital ophthalmoplegia v0.92 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.92 MYO9A Zornitza Stark Classified gene: MYO9A as Green List (high evidence)
Congenital ophthalmoplegia v0.92 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.91 MYO9A Zornitza Stark gene: MYO9A was added
gene: MYO9A was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Review for gene: MYO9A was set to GREEN
Added comment: Ptosis and ophthalmoplegia are common features of CMS.
Sources: Expert list
Congenital ophthalmoplegia v0.90 CHRND Zornitza Stark Marked gene: CHRND as ready
Congenital ophthalmoplegia v0.90 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.90 CHRND Zornitza Stark Classified gene: CHRND as Green List (high evidence)
Congenital ophthalmoplegia v0.90 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.89 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, MIM# 616322
Review for gene: CHRND was set to GREEN
Added comment: Ptosis and ophthalmoplegia are features of congenital myasthenic syndromes.
Sources: Expert list
Congenital ophthalmoplegia v0.87 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Congenital ophthalmoplegia v0.87 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.87 LMOD3 Zornitza Stark Classified gene: LMOD3 as Green List (high evidence)
Congenital ophthalmoplegia v0.87 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.86 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD3 were set to 25250574
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, MIM# 616165
Review for gene: LMOD3 was set to GREEN
Added comment: In a series of 21 affected individuals, ophthalmoplegia was present in a third.
Sources: Expert list
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark changed review comment from: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features.
Sources: Expert list; to: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features. Nine unrelated families.
Sources: Expert list
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark Marked gene: HPDL as ready
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.82 HPDL Zornitza Stark gene: HPDL was added
gene: HPDL was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026
Review for gene: HPDL was set to GREEN
Added comment: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Classified gene: RNF216 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.184 RNF216 Zornitza Stark gene: RNF216 was added
gene: RNF216 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 25841028; 23656588
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Review for gene: RNF216 was set to GREEN
Added comment: Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism, which can present with amenorrhoea in females.
Sources: Expert list
Congenital ophthalmoplegia v0.79 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Congenital ophthalmoplegia v0.79 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.79 SURF1 Zornitza Stark Classified gene: SURF1 as Green List (high evidence)
Congenital ophthalmoplegia v0.79 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.78 SLC18A3 Zornitza Stark Marked gene: SLC18A3 as ready
Congenital ophthalmoplegia v0.78 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.78 SLC18A3 Zornitza Stark Classified gene: SLC18A3 as Green List (high evidence)
Congenital ophthalmoplegia v0.78 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.77 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Congenital ophthalmoplegia v0.77 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.77 C1QBP Zornitza Stark Classified gene: C1QBP as Green List (high evidence)
Congenital ophthalmoplegia v0.77 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.76 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Congenital ophthalmoplegia v0.76 BIN1 Zornitza Stark Gene: bin1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.76 BIN1 Zornitza Stark Classified gene: BIN1 as Green List (high evidence)
Congenital ophthalmoplegia v0.76 BIN1 Zornitza Stark Gene: bin1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5769 XYLT1 Zornitza Stark Tag SV/CNV tag was added to gene: XYLT1.
Tag STR tag was added to gene: XYLT1.
Mendeliome v0.5769 XYLT1 Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3336 XYLT1 Zornitza Stark Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2; OMIM# 615777 to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Intellectual disability syndromic and non-syndromic v0.3335 XYLT1 Zornitza Stark Tag SV/CNV tag was added to gene: XYLT1.
Tag STR tag was added to gene: XYLT1.
Intellectual disability syndromic and non-syndromic v0.3335 XYLT1 Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Congenital Disorders of Glycosylation v0.369 XYLT1 Zornitza Stark Publications for gene: XYLT1 were set to
Congenital Disorders of Glycosylation v0.368 XYLT1 Zornitza Stark Mode of inheritance for gene: XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.367 XYLT1 Zornitza Stark Tag SV/CNV tag was added to gene: XYLT1.
Tag STR tag was added to gene: XYLT1.
Congenital Disorders of Glycosylation v0.367 XYLT1 Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3335 TUSC3 Zornitza Stark Tag SV/CNV tag was added to gene: TUSC3.
Intellectual disability syndromic and non-syndromic v0.3335 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Intellectual disability syndromic and non-syndromic v0.3335 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3335 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)
Intellectual disability syndromic and non-syndromic v0.3334 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Intellectual disability syndromic and non-syndromic v0.3333 TUSC3 Zornitza Stark Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3332 TUSC3 Zornitza Stark reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5769 TUSC3 Zornitza Stark Tag SV/CNV tag was added to gene: TUSC3.
Mendeliome v0.5769 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Mendeliome v0.5769 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Mendeliome v0.5769 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)
Mendeliome v0.5768 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Mendeliome v0.5767 TUSC3 Zornitza Stark Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5766 TUSC3 Zornitza Stark reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)
Congenital Disorders of Glycosylation v0.366 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Congenital Disorders of Glycosylation v0.365 TUSC3 Zornitza Stark Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.364 TUSC3 Zornitza Stark Tag SV/CNV tag was added to gene: TUSC3.
Congenital Disorders of Glycosylation v0.364 TUSC3 Zornitza Stark reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark commented on gene: TMEM5: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Brain imaging shows cobblestone lissencephaly. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB).
Mendeliome v0.5766 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Mendeliome v0.5766 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Lissencephaly and Band Heterotopia v0.107 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Lissencephaly and Band Heterotopia v0.107 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022
Congenital Disorders of Glycosylation v0.363 TMEM5 Zornitza Stark Publications for gene: TMEM5 were set to
Congenital Disorders of Glycosylation v0.362 TMEM5 Zornitza Stark Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.361 TMEM5 Zornitza Stark reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23217329, 23519211, 30017359, 27733679, 27212206; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3332 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Intellectual disability syndromic and non-syndromic v0.3332 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3332 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870
Intellectual disability syndromic and non-syndromic v0.3331 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Intellectual disability syndromic and non-syndromic v0.3330 TMEM165 Zornitza Stark Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3329 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5766 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Mendeliome v0.5766 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Mendeliome v0.5766 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870
Mendeliome v0.5765 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Mendeliome v0.5764 TMEM165 Zornitza Stark Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5763 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870
Congenital Disorders of Glycosylation v0.360 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Congenital Disorders of Glycosylation v0.359 TMEM165 Zornitza Stark Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.358 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5763 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, MIM 269250 to Schneckenbecken dysplasia, MIM 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.358 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark edited their review of gene: SLC35D1: Changed phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Mendeliome v0.5762 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to 31423530; 19508970
Mendeliome v0.5761 SLC35D1 Zornitza Stark reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.356 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Congenital Disorders of Glycosylation v0.355 SLC35D1 Zornitza Stark Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.354 SLC35D1 Zornitza Stark reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5761 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Mendeliome v0.5761 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Mendeliome v0.5761 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Mendeliome v0.5760 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Mendeliome v0.5759 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5758 SLC35C1 Zornitza Stark reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Congenital Disorders of Glycosylation v0.353 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Congenital Disorders of Glycosylation v0.352 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.351 SLC35C1 Zornitza Stark reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5758 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II , MIM#224100 to Dyserythropoietic anemia, congenital, type II , MIM#224100; Cowden syndrome 7, MIM# 616858
Mendeliome v0.5757 SEC23B Zornitza Stark Publications for gene: SEC23B were set to 19561605; 19621418
Mendeliome v0.5756 SEC23B Zornitza Stark edited their review of gene: SEC23B: Changed phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100, Cowden syndrome 7, MIM# 616858
Mendeliome v0.5756 SEC23B Zornitza Stark edited their review of gene: SEC23B: Changed publications: 19561605, 19621418, 26522472
Mendeliome v0.5756 SEC23B Zornitza Stark changed review comment from: Over 20 families reported.; to: Bi-allelic variants and anaemia: Over 20 families reported.

Mono-allelic variants: three families reported with heterozygous missense variants, however note these are present in gnomad. In the case of one of the variants, >2,000 hets. LIMITED evidence for disease association.
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Congenital Disorders of Glycosylation v0.350 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Congenital Disorders of Glycosylation v0.349 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.348 SEC23B Zornitza Stark reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II 224100, COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Mode of inheritance: None
Mendeliome v0.5756 GNE Zornitza Stark Marked gene: GNE as ready
Mendeliome v0.5756 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Mendeliome v0.5756 GNE Zornitza Stark Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Mendeliome v0.5755 GNE Zornitza Stark Publications for gene: GNE were set to
Mendeliome v0.5754 GNE Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Marked gene: GNE as ready
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Mendeliome v0.5753 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.347 GNE Zornitza Stark Publications for gene: GNE were set to
Congenital Disorders of Glycosylation v0.347 GNE Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.346 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Marked gene: GALNT3 as ready
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Congenital Disorders of Glycosylation v0.345 GALNT3 Zornitza Stark Publications for gene: GALNT3 were set to
Congenital Disorders of Glycosylation v0.344 GALNT3 Zornitza Stark Mode of inheritance for gene: GALNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.343 GALNT3 Zornitza Stark reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15133511, 20358599, 32125652; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Marked gene: FKRP as ready
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from 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
Congenital Disorders of Glycosylation v0.342 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.341 FKRP Zornitza Stark reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Marked gene: FKTN as ready
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from 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
Congenital Disorders of Glycosylation v0.340 FKTN Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.339 FKTN Zornitza Stark reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome 616682; Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.338 EXT2 Zornitza Stark Publications for gene: EXT2 were set to
Congenital Disorders of Glycosylation v0.337 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.336 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30288735, 30075207, 26246518; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome 616682, Exostoses, multiple, type 2 133701, Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3329 EXT2 Zornitza Stark Publications for gene: EXT2 were set to
Intellectual disability syndromic and non-syndromic v0.3328 EXT2 Zornitza Stark edited their review of gene: EXT2: Changed publications: 30288735, 30075207, 26246518
Mendeliome v0.5753 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Mendeliome v0.5753 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Mendeliome v0.5753 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5752 EXT2 Zornitza Stark edited their review of gene: EXT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Gene: ext1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.335 EXT1 Zornitza Stark Publications for gene: EXT1 were set to
Congenital Disorders of Glycosylation v0.334 EXT1 Zornitza Stark Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.333 EXT1 Zornitza Stark reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 9521425; Phenotypes: Exostoses, multiple, type 1 133700, Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Marked gene: TBL1X as ready
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Classified gene: TBL1X as Green List (high evidence)
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.8 TBL1X Zornitza Stark reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.5752 TBL1X Zornitza Stark Marked gene: TBL1X as ready
Mendeliome v0.5752 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Mendeliome v0.5752 TBL1X Zornitza Stark Classified gene: TBL1X as Green List (high evidence)
Mendeliome v0.5752 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Classified gene: CHSY1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.39 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 21129728; 21129727; 24269551
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Review for gene: CHSY1 was set to GREEN
Added comment: Skeletal anomalies, dysmorphic features and deafness. More than 5 unrelated families reported.
Sources: Expert Review
Callosome v0.236 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Callosome v0.235 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Callosome v0.235 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Red List (Low Evidence).
Callosome v0.235 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Callosome v0.234 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Callosome v0.233 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.232 CHSY1 Zornitza Stark Classified gene: CHSY1 as Red List (low evidence)
Callosome v0.232 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Red List (Low Evidence).
Callosome v0.231 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: RED; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5751 CHSY1 Zornitza Stark edited their review of gene: CHSY1: Changed phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Mendeliome v0.5751 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Mendeliome v0.5751 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Mendeliome v0.5751 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Mendeliome v0.5750 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Mendeliome v0.5749 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5748 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: VTemtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.332 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Congenital Disorders of Glycosylation v0.331 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.330 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5748 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Mendeliome v0.5748 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Mendeliome v0.5748 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, type 1bb, MIM# 613861
Mendeliome v0.5747 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Mendeliome v0.5746 DHDDS Zornitza Stark Mode of inheritance for gene: DHDDS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5745 DHDDS Zornitza Stark Tag founder tag was added to gene: DHDDS.
Mendeliome v0.5745 DHDDS Zornitza Stark edited their review of gene: DHDDS: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5745 DHDDS Zornitza Stark reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 29100083, 21295283; Phenotypes: Developmental delay and seizures with or without movement abnormalities, MIM#617836, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5745 FBLN1 Zornitza Stark Publications for gene: FBLN1 were set to 11836357
Mendeliome v0.5744 FBLN1 Zornitza Stark Mode of inheritance for gene: FBLN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5743 FBLN1 Zornitza Stark reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 24084572; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark edited their review of gene: FBLN1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark changed review comment from: Single association to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited; to: Single association of mono-allelic variants to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited.

Single report of homozygous missense in a family with syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy.
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark edited their review of gene: FBLN1: Changed publications: 11836357, 24084572
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Marked gene: FBLN1 as ready
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Classified gene: FBLN1 as Red List (low evidence)
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.69 FBLN1 Zornitza Stark reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5743 FBLN1 Zornitza Stark Marked gene: FBLN1 as ready
Mendeliome v0.5743 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Mendeliome v0.5743 FBLN1 Zornitza Stark Phenotypes for gene: FBLN1 were changed from to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180
Mendeliome v0.5742 FBLN1 Zornitza Stark Publications for gene: FBLN1 were set to
Mendeliome v0.5741 FBLN1 Zornitza Stark Mode of inheritance for gene: FBLN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5740 FBLN1 Zornitza Stark Classified gene: FBLN1 as Red List (low evidence)
Mendeliome v0.5740 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Regression v0.222 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Pituitary hormone deficiency v0.8 TBL1X Elena Savva gene: TBL1X was added
gene: TBL1X was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: TBL1X 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: TBL1X were set to PMID: 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Review for gene: TBL1X was set to GREEN
Added comment: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF

All mutations were located in the highly conserved WD40-repeat domains.
Sources: Literature
Mendeliome v0.5739 TBL1X Elena Savva gene: TBL1X was added
gene: TBL1X was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBL1X 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: TBL1X were set to PMID: 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Review for gene: TBL1X was set to GREEN
Added comment: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF

All mutations were located in the highly conserved WD40-repeat domains.
Sources: Literature
Regression v0.222 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Regression v0.222 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Regression v0.222 ST3GAL5 Zornitza Stark Classified gene: ST3GAL5 as Green List (high evidence)
Regression v0.222 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Regression v0.221 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL5 were set to 23436467; 22990144; 15502825; 27232954; 30691927; 30688114; 30576498
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Review for gene: ST3GAL5 was set to GREEN
Added comment: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3328 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from Salt and pepper developmental regression syndrome; OMIM #609056 to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Intellectual disability syndromic and non-syndromic v0.3327 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681
Intellectual disability syndromic and non-syndromic v0.3326 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Intellectual disability syndromic and non-syndromic v0.3326 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Genetic Epilepsy v0.982 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Genetic Epilepsy v0.982 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Genetic Epilepsy v0.982 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.982 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Genetic Epilepsy v0.981 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Genetic Epilepsy v0.980 ST3GAL5 Zornitza Stark Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.979 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Mendeliome v0.5738 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Mendeliome v0.5737 ST3GAL5 Zornitza Stark Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5736 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Congenital Disorders of Glycosylation v0.329 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Congenital Disorders of Glycosylation v0.328 ST3GAL5 Zornitza Stark Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.327 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5736 FBLN1 Elena Savva reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.3326 DPYD Ain Roesley reviewed gene: DPYD: Rating: AMBER; Mode of pathogenicity: None; Publications: 10071185, 25565930, 30349988, 28275972, 17065071, 21114665, 22003227, 28123791; Phenotypes: Dihydropyrimidine dehydrogenase deficiency (MIM#274270); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.75 C1QBP Shannon LeBlanc gene: C1QBP was added
gene: C1QBP was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to PMID: 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Review for gene: C1QBP was set to GREEN
Added comment: Highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. PEO onset has been reported in childhood.
Sources: Literature
Congenital ophthalmoplegia v0.75 SLC18A3 Shannon LeBlanc gene: SLC18A3 was added
gene: SLC18A3 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to PMID: 27590285; 20123977; 28188302; 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239
Review for gene: SLC18A3 was set to GREEN
Added comment: congenital myasthenic syndrome - ptosis and ophthalmoplegia are common features.

Three families with bi-allelic variants and a mouse model support gene-disease association. Fetal akinesia reported in association with LOF variants.
Sources: Literature
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Classified gene: SUCLA2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.37 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 15877282; 17287286; 17301081; 23759946; 33231368; 33230181; 28243576; 27913098; 27651038
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Review for gene: SUCLA2 was set to GREEN
Added comment: Bi-allelic variants in this gene are associated with a disorder characterised by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. More than 10 unrelated families reported.
Sources: Expert Review
Mendeliome v0.5736 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Mendeliome v0.5736 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Mendeliome v0.5736 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Mendeliome v0.5735 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Mendeliome v0.5734 SUCLA2 Zornitza Stark Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5733 SUCLA2 Zornitza Stark edited their review of gene: SUCLA2: Changed phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Mendeliome v0.5733 SUCLA2 Zornitza Stark reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877282, 17287286, 17301081, 23759946, 33231368, 33230181, 28243576, 27913098, 27651038; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.75 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Congenital ophthalmoplegia v0.75 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.75 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073
Congenital ophthalmoplegia v0.74 SUCLA2 Zornitza Stark Classified gene: SUCLA2 as Green List (high evidence)
Congenital ophthalmoplegia v0.74 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Classified gene: RFT1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.35 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFT1 were set to 18313027; 19701946; 19856127; 23111317; 30071302; 29923091; 27927990; 26892341
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Review for gene: RFT1 was set to GREEN
Added comment: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3326 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Intellectual disability syndromic and non-syndromic v0.3326 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3326 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Intellectual disability syndromic and non-syndromic v0.3325 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Intellectual disability syndromic and non-syndromic v0.3324 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3323 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.979 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Genetic Epilepsy v0.979 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.979 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Genetic Epilepsy v0.978 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Genetic Epilepsy v0.977 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.976 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5733 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Mendeliome v0.5733 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Mendeliome v0.5733 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Mendeliome v0.5732 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Mendeliome v0.5731 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5730 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Congenital Disorders of Glycosylation v0.326 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Congenital Disorders of Glycosylation v0.325 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.324 RFT1 Zornitza Stark edited their review of gene: RFT1: Changed phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783
Congenital ophthalmoplegia v0.73 BIN1 Shannon LeBlanc gene: BIN1 was added
gene: BIN1 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIN1 were set to PMID 29950440
Phenotypes for gene: BIN1 were set to Centronuclear myopathy 2, MIM 255200
Review for gene: BIN1 was set to GREEN
Added comment: Wide range at onset from neonatal to adulthood with usually mild, slowly progressive proximal limb weakness and ophthalmoparesis
Sources: Literature
Congenital Disorders of Glycosylation v0.324 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.73 SUCLA2 Shannon LeBlanc reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301762; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.73 SUCLA2 Shannon LeBlanc Deleted their review
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
Congenital Disorders of Glycosylation v0.323 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.322 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
Congenital Disorders of Glycosylation v0.321 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.320 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.73 SUCLA2 Shannon LeBlanc gene: SUCLA2 was added
gene: SUCLA2 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to PMID: 20301762
Review for gene: SUCLA2 was set to GREEN
Added comment: Infantile onset. External ophthalmoplegia is feature in up to 25% of patients.
Sources: Literature
Congenital ophthalmoplegia v0.73 SURF1 Shannon LeBlanc gene: SURF1 was added
gene: SURF1 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SURF1 were set to PMID: 10746561; 29933018; 33134083
Phenotypes for gene: SURF1 were set to Mitochondrial complex IV deficiency, nuclear type 1 OMIM 220110
Review for gene: SURF1 was set to GREEN
Added comment: Oculomotor abnormalities such as slow saccades, ophthalmoparesis or complex irregular eye movements are a feature.
Sources: Literature
Mendeliome v0.5730 CHST6 Zornitza Stark Marked gene: CHST6 as ready
Mendeliome v0.5730 CHST6 Zornitza Stark Gene: chst6 has been classified as Green List (High Evidence).
Mendeliome v0.5730 CHST6 Zornitza Stark Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Mendeliome v0.5729 CHST6 Zornitza Stark Publications for gene: CHST6 were set to
Mendeliome v0.5728 CHST6 Zornitza Stark Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5727 CHST6 Zornitza Stark reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.35 CHST6 Zornitza Stark Marked gene: CHST6 as ready
Corneal Dystrophy v0.35 CHST6 Zornitza Stark Gene: chst6 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.35 CHST6 Zornitza Stark Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Corneal Dystrophy v0.34 CHST6 Zornitza Stark Publications for gene: CHST6 were set to
Corneal Dystrophy v0.33 CHST6 Zornitza Stark Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.32 CHST6 Zornitza Stark reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Marked gene: CHST6 as ready
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Gene: chst6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Congenital Disorders of Glycosylation v0.319 CHST6 Zornitza Stark Publications for gene: CHST6 were set to
Congenital Disorders of Glycosylation v0.318 CHST6 Zornitza Stark Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.317 CHST6 Zornitza Stark reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from 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
Congenital Disorders of Glycosylation v0.316 GMPPB Zornitza Stark Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.315 GMPPB Zornitza Stark reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; 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
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from CDG syndrome type IIa to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Additional findings_Paediatric v0.186 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Additional findings_Paediatric v0.185 MGAT2 Zornitza Stark Classified gene: MGAT2 as Green List (high evidence)
Additional findings_Paediatric v0.185 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.184 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3323 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Intellectual disability syndromic and non-syndromic v0.3323 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3323 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Intellectual disability syndromic and non-syndromic v0.3322 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Intellectual disability syndromic and non-syndromic v0.3321 MGAT2 Zornitza Stark Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3320 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5727 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Mendeliome v0.5727 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Mendeliome v0.5727 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Mendeliome v0.5726 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Mendeliome v0.5725 MGAT2 Zornitza Stark Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5724 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.314 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to 8808595; 11228641; 22105986
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark edited their review of gene: MGAT2: Changed publications: 8808595, 11228641, 22105986, 33044030, 31420886
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies.; to: Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies. One individual reported with immune dysfunction, and one with hydrops.
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark edited their review of gene: MGAT2: Changed publications: 8808595, 11228641, 22105986, 33044030
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Congenital Disorders of Glycosylation v0.312 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Congenital Disorders of Glycosylation v0.311 MGAT2 Zornitza Stark Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.310 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Marked gene: MPI as ready
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Classified gene: MPI as Green List (high evidence)
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.207 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Review for gene: MPI was set to GREEN
Added comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Both bleeding and thrombosis reported. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.

Well established gene-disease association, numerous families reported.
Sources: Expert Review
Congenital Diarrhoea v0.12 MPI Zornitza Stark Marked gene: MPI as ready
Congenital Diarrhoea v0.12 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.12 MPI Zornitza Stark Classified gene: MPI as Green List (high evidence)
Congenital Diarrhoea v0.12 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.11 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Review for gene: MPI was set to GREEN
Added comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.

Well established gene-disease association, numerous families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3320 MPI Zornitza Stark Marked gene: MPI as ready
Intellectual disability syndromic and non-syndromic v0.3320 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3320 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Intellectual disability syndromic and non-syndromic v0.3319 MPI Zornitza Stark Publications for gene: MPI were set to
Intellectual disability syndromic and non-syndromic v0.3318 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3317 MPI Zornitza Stark Classified gene: MPI as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3317 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3316 MPI Zornitza Stark reviewed gene: MPI: Rating: RED; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5724 MPI Zornitza Stark Marked gene: MPI as ready
Mendeliome v0.5724 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Mendeliome v0.5724 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Mendeliome v0.5723 MPI Zornitza Stark Publications for gene: MPI were set to
Mendeliome v0.5722 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5721 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark edited their review of gene: MPI: Changed phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Marked gene: MPI as ready
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Congenital Disorders of Glycosylation v0.309 MPI Zornitza Stark Publications for gene: MPI were set to
Congenital Disorders of Glycosylation v0.308 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.308 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.307 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from 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
Congenital Disorders of Glycosylation v0.306 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.305 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Marked gene: ISPD as ready
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
Congenital Disorders of Glycosylation v0.304 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.303 ISPD Zornitza Stark reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135
Congenital Disorders of Glycosylation v0.302 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.301 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
Congenital Disorders of Glycosylation v0.300 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.299 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3316 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Intellectual disability syndromic and non-syndromic v0.3316 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3316 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Intellectual disability syndromic and non-syndromic v0.3315 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Intellectual disability syndromic and non-syndromic v0.3314 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3313 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Combined Immunodeficiency v0.170 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Combined Immunodeficiency v0.169 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.168 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5721 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Mendeliome v0.5721 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Mendeliome v0.5721 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Mendeliome v0.5720 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Mendeliome v0.5719 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5718 PGM3 Zornitza Stark changed review comment from: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity. More than 10 unrelated families reported.; to: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation.

Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity.

More than 10 unrelated families reported.
Mendeliome v0.5718 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.299 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from Immunodeficiency 23, MIM# 615816 to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816
Congenital Disorders of Glycosylation v0.297 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Congenital Disorders of Glycosylation v0.296 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.295 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3313 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Intellectual disability syndromic and non-syndromic v0.3313 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3313 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Intellectual disability syndromic and non-syndromic v0.3312 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to 24439110; 29620724; 30345601; 30217754
Intellectual disability syndromic and non-syndromic v0.3311 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Genetic Epilepsy v0.976 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Genetic Epilepsy v0.976 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.976 PGAP3 Zornitza Stark Classified gene: PGAP3 as Green List (high evidence)
Genetic Epilepsy v0.976 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3310 PGAP3 Zornitza Stark Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.975 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP3 were set to 24439110; 29620724; 30345601; 30217754
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Review for gene: PGAP3 was set to GREEN
Added comment: Bi-allelic variants in this gene are associated with severe DD/ID, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. More than 15 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3309 PGAP3 Zornitza Stark reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5718 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Mendeliome v0.5718 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Mendeliome v0.5718 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Mendeliome v0.5717 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Mendeliome v0.5716 PGAP3 Zornitza Stark Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5715 PGAP3 Zornitza Stark reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Congenital Disorders of Glycosylation v0.294 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Congenital Disorders of Glycosylation v0.293 PGAP3 Zornitza Stark Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed rating: GREEN
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark reviewed gene: PGAP3: Rating: ; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716; Mode of inheritance: None
Genetic Epilepsy v0.974 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Genetic Epilepsy v0.974 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.974 PGAP2 Zornitza Stark Classified gene: PGAP2 as Amber List (moderate evidence)
Genetic Epilepsy v0.974 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.973 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP2 were set to 23561846; 23561847; 31805394; 29119105; 27871432
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Review for gene: PGAP2 was set to AMBER
Added comment: Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported.

Although HPMRS disorders are frequently associated with seizures, this seems a less frequently reported feature associated with variants in this gene.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3309 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Intellectual disability syndromic and non-syndromic v0.3309 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3309 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Intellectual disability syndromic and non-syndromic v0.3308 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Intellectual disability syndromic and non-syndromic v0.3307 PGAP2 Zornitza Stark Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3306 PGAP2 Zornitza Stark reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5715 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Mendeliome v0.5715 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Mendeliome v0.5715 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Mendeliome v0.5714 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Mendeliome v0.5713 PGAP2 Zornitza Stark Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5712 PGAP2 Zornitza Stark reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.292 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207 to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark edited their review of gene: PGAP2: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207
Congenital Disorders of Glycosylation v0.290 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Congenital Disorders of Glycosylation v0.289 PGAP2 Zornitza Stark Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.288 PGAP2 Zornitza Stark reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.972 PIGV Zornitza Stark Marked gene: PIGV as ready
Genetic Epilepsy v0.972 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Genetic Epilepsy v0.972 PIGV Zornitza Stark Classified gene: PIGV as Green List (high evidence)
Genetic Epilepsy v0.972 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Genetic Epilepsy v0.971 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGV were set to 20802478; 22315194; 28817240; 24129430
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Review for gene: PIGV was set to GREEN
Added comment: Bi-allelic variants in this gene are associated with intellectual disability, seizures, hypotonia, and hyperphosphatasia. Other features include facial dysmorphism, variable degrees of brachytelephalangy and congenital anomalies.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3306 PIGV Zornitza Stark Marked gene: PIGV as ready
Intellectual disability syndromic and non-syndromic v0.3306 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3306 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Intellectual disability syndromic and non-syndromic v0.3305 PIGV Zornitza Stark Publications for gene: PIGV were set to
Intellectual disability syndromic and non-syndromic v0.3304 PIGV Zornitza Stark Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3303 PIGV Zornitza Stark reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5712 PIGV Zornitza Stark Marked gene: PIGV as ready
Mendeliome v0.5712 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Mendeliome v0.5712 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Mendeliome v0.5711 PIGV Zornitza Stark Publications for gene: PIGV were set to
Mendeliome v0.5710 PIGV Zornitza Stark Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5709 PIGV Zornitza Stark reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark edited their review of gene: PIGV: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Marked gene: PIGV as ready
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300 to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Congenital Disorders of Glycosylation v0.287 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300
Congenital Disorders of Glycosylation v0.286 PIGV Zornitza Stark Publications for gene: PIGV were set to
Congenital Disorders of Glycosylation v0.285 PIGV Zornitza Stark Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.284 PIGV Zornitza Stark reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3303 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Intellectual disability syndromic and non-syndromic v0.3302 PIGT Zornitza Stark edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Genetic Epilepsy v0.970 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Genetic Epilepsy v0.969 PIGT Zornitza Stark edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Mendeliome v0.5709 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Mendeliome v0.5708 PIGT Zornitza Stark edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Marked gene: PIGT as ready
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Gene: pigt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Genetic Epilepsy v0.969 PIGO Zornitza Stark Marked gene: PIGO as ready
Genetic Epilepsy v0.969 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.969 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Genetic Epilepsy v0.968 PIGO Zornitza Stark Publications for gene: PIGO were set to
Genetic Epilepsy v0.967 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.966 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3302 PIGO Zornitza Stark Marked gene: PIGO as ready
Intellectual disability syndromic and non-syndromic v0.3302 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3302 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Intellectual disability syndromic and non-syndromic v0.3301 PIGO Zornitza Stark Publications for gene: PIGO were set to
Intellectual disability syndromic and non-syndromic v0.3300 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3299 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5708 PIGO Zornitza Stark Marked gene: PIGO as ready
Mendeliome v0.5708 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Mendeliome v0.5708 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Mendeliome v0.5707 PIGO Zornitza Stark Publications for gene: PIGO were set to
Mendeliome v0.5706 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5705 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.283 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749 to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark edited their review of gene: PIGO: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Marked gene: PIGO as ready
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749
Congenital Disorders of Glycosylation v0.281 PIGO Zornitza Stark Publications for gene: PIGO were set to
Congenital Disorders of Glycosylation v0.280 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.279 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3299 PIGN Zornitza Stark Marked gene: PIGN as ready
Intellectual disability syndromic and non-syndromic v0.3299 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3299 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Intellectual disability syndromic and non-syndromic v0.3298 PIGN Zornitza Stark Publications for gene: PIGN were set to
Intellectual disability syndromic and non-syndromic v0.3297 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3296 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5705 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Genetic Epilepsy v0.966 PIGN Zornitza Stark Marked gene: PIGN as ready
Genetic Epilepsy v0.966 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Genetic Epilepsy v0.966 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Genetic Epilepsy v0.965 PIGN Zornitza Stark Publications for gene: PIGN were set to
Genetic Epilepsy v0.964 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.963 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Marked gene: PIGN as ready
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Mendeliome v0.5705 PIGN Zornitza Stark Marked gene: PIGN as ready
Mendeliome v0.5705 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Mendeliome v0.5705 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Mendeliome v0.5704 PIGN Zornitza Stark Publications for gene: PIGN were set to
Mendeliome v0.5703 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Mendeliome v0.5702 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.278 PIGN Zornitza Stark Publications for gene: PIGN were set to
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.
Congenital Disorders of Glycosylation v0.277 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.276 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Congenital Disorders of Glycosylation v0.276 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Marked gene: PIGA as ready
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Callosome v0.231 PIGA Zornitza Stark Marked gene: PIGA as ready
Callosome v0.231 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Callosome v0.231 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Callosome v0.230 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.229 PIGA Zornitza Stark Classified gene: PIGA as Red List (low evidence)
Callosome v0.229 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Callosome v0.228 PIGA Zornitza Stark reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.184 PIGA Zornitza Stark edited their review of gene: PIGA: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Marked gene: PIGA as ready
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from Epileptic encephalopathy, early-onset to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Additional findings_Paediatric v0.183 PIGA Zornitza Stark Publications for gene: PIGA were set to
Additional findings_Paediatric v0.182 PIGA Zornitza Stark Classified gene: PIGA as Green List (high evidence)
Additional findings_Paediatric v0.182 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.181 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5702 PIGA Zornitza Stark Marked gene: PIGA as ready
Mendeliome v0.5702 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Mendeliome v0.5702 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Mendeliome v0.5701 PIGA Zornitza Stark Publications for gene: PIGA were set to
Mendeliome v0.5700 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Mendeliome v0.5699 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.275 PIGA Zornitza Stark Publications for gene: PIGA were set to
Congenital Disorders of Glycosylation v0.274 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.273 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Marked gene: PIGL as ready
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Classified gene: PIGL as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.76 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review
SV/CNV, founder tags were added to gene: PIGL.
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671; 31535386; 30023290; 29473937; 28371479; 25706356
Phenotypes for gene: PIGL were set to CHIME syndrome, MIM# 280000, MONDO:0010221
Review for gene: PIGL was set to GREEN
Added comment: Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia. p.Leu167Pro is a common founder variant. Also note large deletion reported more than once. More than 10 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3296 PIGL Zornitza Stark Marked gene: PIGL as ready
Intellectual disability syndromic and non-syndromic v0.3296 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3296 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Intellectual disability syndromic and non-syndromic v0.3295 PIGL Zornitza Stark Publications for gene: PIGL were set to
Intellectual disability syndromic and non-syndromic v0.3294 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Intellectual disability syndromic and non-syndromic v0.3294 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3293 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5699 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Mendeliome v0.5699 PIGL Zornitza Stark Marked gene: PIGL as ready
Mendeliome v0.5699 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Mendeliome v0.5699 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Mendeliome v0.5698 PIGL Zornitza Stark Publications for gene: PIGL were set to
Mendeliome v0.5697 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5696 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.102 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from CHIME syndrome (MIM#280000) to CHIME syndrome, MIM# 280000, MONDO:0010221
Ichthyosis and Porokeratosis v0.101 PIGL Zornitza Stark Publications for gene: PIGL were set to 22444671; 31535386
Ichthyosis and Porokeratosis v0.100 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Ichthyosis and Porokeratosis v0.100 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark edited their review of gene: PIGL: Changed phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Marked gene: PIGL as ready
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Congenital Disorders of Glycosylation v0.272 PIGL Zornitza Stark Publications for gene: PIGL were set to
Congenital Disorders of Glycosylation v0.271 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.270 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Osteogenesis Imperfecta and Osteoporosis v0.53 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Osteogenesis Imperfecta and Osteoporosis v0.52 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Osteogenesis Imperfecta and Osteoporosis v0.52 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.51 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664117, 23664118; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5696 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Mendeliome v0.5696 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Mendeliome v0.5696 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Mendeliome v0.5695 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Mendeliome v0.5694 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5693 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; Phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Congenital Disorders of Glycosylation v0.269 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Congenital Disorders of Glycosylation v0.268 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.267 B3GALT6 Zornitza Stark changed review comment from: B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.

Variants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome MIM#609465, all of which have overlapping features.; to: B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.

Variants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome MIM#609465, all of which have overlapping features. Multiple families reported.
Congenital Disorders of Glycosylation v0.267 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; Phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Muscular dystrophy and myopathy_Paediatric v0.86 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Muscular dystrophy and myopathy_Paediatric v0.85 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.84 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.74 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Hydrocephalus_Ventriculomegaly v0.74 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.74 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Hydrocephalus_Ventriculomegaly v0.73 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Hydrocephalus_Ventriculomegaly v0.72 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.71 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3293 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Intellectual disability syndromic and non-syndromic v0.3293 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3293 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Intellectual disability syndromic and non-syndromic v0.3292 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Intellectual disability syndromic and non-syndromic v0.3291 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3290 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Mendeliome v0.5692 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Mendeliome v0.5691 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5690 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark edited their review of gene: B3GALNT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Congenital Disorders of Glycosylation v0.266 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Congenital Disorders of Glycosylation v0.265 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.264 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Classified gene: MPDU1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.83 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Muscular dystrophy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Review for gene: MPDU1 was set to GREEN
Added comment: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.
Sources: Expert Review
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Additional findings_Paediatric v0.180 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Additional findings_Paediatric v0.179 MPDU1 Zornitza Stark Classified gene: MPDU1 as Green List (high evidence)
Additional findings_Paediatric v0.179 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.178 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3290 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Intellectual disability syndromic and non-syndromic v0.3290 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3290 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Intellectual disability syndromic and non-syndromic v0.3289 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Intellectual disability syndromic and non-syndromic v0.3288 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3287 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.963 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Genetic Epilepsy v0.963 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.963 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Genetic Epilepsy v0.962 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Genetic Epilepsy v0.961 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.960 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5690 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Mendeliome v0.5690 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Mendeliome v0.5690 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Mendeliome v0.5689 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Mendeliome v0.5688 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Mendeliome v0.5687 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.263 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Congenital Disorders of Glycosylation v0.262 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.261 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.245 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Cataract v0.245 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Cataract v0.245 DPAGT1 Zornitza Stark Classified gene: DPAGT1 as Green List (high evidence)
Cataract v0.245 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Cataract v0.244 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Cataract. Sources: Expert Review
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Review for gene: DPAGT1 was set to GREEN
Added comment: Cataracts reported in more than 3 unrelated families with this Type I CDG. Other common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. Overall, more than 20 unrelated families reported.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.50 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DP, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750AGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3287 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Intellectual disability syndromic and non-syndromic v0.3287 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3287 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Intellectual disability syndromic and non-syndromic v0.3286 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Intellectual disability syndromic and non-syndromic v0.3285 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3284 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.960 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Genetic Epilepsy v0.960 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.960 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Genetic Epilepsy v0.959 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Genetic Epilepsy v0.958 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.957 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5687 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Mendeliome v0.5687 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Mendeliome v0.5687 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Mendeliome v0.5686 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Mendeliome v0.5685 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5684 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.
Mendeliome v0.5684 DPAGT1 Zornitza Stark edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078
Mendeliome v0.5684 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Congenital Disorders of Glycosylation v0.260 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Congenital Disorders of Glycosylation v0.259 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder
Congenital Disorders of Glycosylation v0.259 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.258 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.44 DOLK Zornitza Stark Publications for gene: DOLK were set to 17273964; 22242004; 23890587
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Marked gene: DOLK as ready
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Marked gene: DOLK as ready
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Muscular dystrophy and myopathy_Paediatric v0.81 DOLK Zornitza Stark Publications for gene: DOLK were set to
Muscular dystrophy and myopathy_Paediatric v0.80 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.79 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Marked gene: DOLK as ready
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Additional findings_Paediatric v0.177 DOLK Zornitza Stark Publications for gene: DOLK were set to
Additional findings_Paediatric v0.176 DOLK Zornitza Stark Classified gene: DOLK as Green List (high evidence)
Additional findings_Paediatric v0.176 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.175 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3284 DOLK Zornitza Stark Marked gene: DOLK as ready
Intellectual disability syndromic and non-syndromic v0.3284 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3284 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Intellectual disability syndromic and non-syndromic v0.3283 DOLK Zornitza Stark Publications for gene: DOLK were set to
Intellectual disability syndromic and non-syndromic v0.3282 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3281 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5684 DOLK Zornitza Stark Marked gene: DOLK as ready
Mendeliome v0.5684 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Mendeliome v0.5684 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Mendeliome v0.5683 DOLK Zornitza Stark Publications for gene: DOLK were set to
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Marked gene: DOLK as ready
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Mendeliome v0.5682 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5681 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.257 DOLK Zornitza Stark Publications for gene: DOLK were set to
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark edited their review of gene: DOLK: Changed phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark edited their review of gene: DOLK: Changed phenotypes: DK1-CDG, MONDO:0012556
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.255 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Marked gene: COG7 as ready
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Congenital Disorders of Glycosylation v0.254 COG7 Zornitza Stark Publications for gene: COG7 were set to
Congenital Disorders of Glycosylation v0.253 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.252 COG7 Zornitza Stark reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15107842, 17356545, 28883096; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Marked gene: COG1 as ready
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209
Congenital Disorders of Glycosylation v0.251 COG1 Zornitza Stark Publications for gene: COG1 were set to
Congenital Disorders of Glycosylation v0.250 COG1 Zornitza Stark Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.249 COG1 Zornitza Stark reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Phenotypes for gene: CHST3 were changed from to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Congenital Disorders of Glycosylation v0.248 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Congenital Disorders of Glycosylation v0.247 CHST3 Zornitza Stark Mode of inheritance for gene: CHST3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.246 CHST3 Zornitza Stark reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Congenital Disorders of Glycosylation v0.245 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Congenital Disorders of Glycosylation v0.244 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.243 CHST14 Zornitza Stark reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5681 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Mendeliome v0.5681 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Mendeliome v0.5681 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777; Dystonia 9, MIM#601042; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847
Mendeliome v0.5680 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Mendeliome v0.5679 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Craniosynostosis v1.13 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Craniosynostosis v1.13 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Craniosynostosis v1.13 TRAF7 Zornitza Stark Classified gene: TRAF7 as Green List (high evidence)
Craniosynostosis v1.13 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Craniosynostosis v1.12 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Craniosynostosis. Sources: Expert Review
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF7 were set to 32459067; 32376980; 29961569
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Review for gene: TRAF7 was set to GREEN
Added comment: Over 50 affected individuals reported. Craniofacial abnormalities are common, including craniosynostosis in more than 3.
Sources: Expert Review
Skeletal dysplasia v0.69 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Skeletal dysplasia v0.68 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Mendeliome v0.5678 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Mendeliome v0.5677 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Lipodystrophy_Lipoatrophy v0.15 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Lipodystrophy_Lipoatrophy v0.14 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Mandibulofacial Acrofacial dysostosis v0.17 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Mandibulofacial Acrofacial dysostosis v0.16 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Mendeliome v0.5677 SLC2A1 Elena Savva reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18451999, 20129935, 10980529, 20221955, 31196579; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126, {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Congenital ophthalmoplegia v0.73 Zornitza Stark Panel types changed to Rare Disease
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Marked gene: CDON as ready
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Classified gene: CDON as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Marked gene: CDON as ready
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Publications for gene: CDON were set to 21802063; 26529631
Pituitary hormone deficiency v0.7 CDON Zornitza Stark reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.7 CDON Elena Savva changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients
Pituitary hormone deficiency v0.7 CDON Elena Savva changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: has anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients
Pituitary hormone deficiency v0.7 CDON Elena Savva reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21802063, 29749693, 32729136, 33270637, 26529631, 27974186; Phenotypes: Holoprosencephaly 11 MIM#614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Anophthalmia_Microphthalmia_Coloboma v0.74 CDON Elena Savva gene: CDON was added
gene: CDON was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CDON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDON were set to PMID: 32729136
Phenotypes for gene: CDON were set to Holoprosencephaly 11 MIM#614226
Review for gene: CDON was set to AMBER
Added comment: Isolated example of chet (both splice) siblings with isolated coloboma. Parents were normal.
Supported by mouse model.
Reviews a hom patient (PTC) in another case also with retinal coloboma, dev delay, dysmorphic features and an additional hom MAPRE2 variant (gene has not be associated to coloboma)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3281 DPYD Elena Savva Deleted their review
Mendeliome v0.5677 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Mendeliome v0.5677 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Mendeliome v0.5677 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Mendeliome v0.5676 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Mendeliome v0.5675 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5674 ERCC1 Zornitza Stark reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 33315086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.248 POR Zornitza Stark Marked gene: POR as ready
Arthrogryposis v0.248 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Arthrogryposis v0.248 POR Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
Arthrogryposis v0.247 POR Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.246 POR Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Marked gene: POR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Phenotypes for gene: POR were changed from to Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.182 POR Zornitza Stark Publications for gene: POR were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.181 POR Zornitza Stark Mode of inheritance for gene: POR was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 POR Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242900; Phenotypes: Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.185 POR Zornitza Stark Marked gene: POR as ready
Differences of Sex Development v0.185 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Differences of Sex Development v0.185 POR Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Differences of Sex Development v0.184 POR Zornitza Stark Publications for gene: POR were set to
Differences of Sex Development v0.183 POR Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.182 POR Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27068427; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5674 POR Zornitza Stark Marked gene: POR as ready
Mendeliome v0.5674 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Mendeliome v0.5674 POR Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Mendeliome v0.5673 POR Zornitza Stark Publications for gene: POR were set to
Mendeliome v0.5672 POR Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5671 MYH6 Zornitza Stark Marked gene: MYH6 as ready
Mendeliome v0.5671 MYH6 Zornitza Stark Gene: myh6 has been classified as Green List (High Evidence).
Mendeliome v0.5671 MYH6 Zornitza Stark Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3 MIM#614089; Congenital heart disease; Cardiomyopathy, dilated, 1EE MIM#613252; Cardiomyopathy, hypertrophic, 14 MIM#613251; {Sick sinus syndrome 3} MIM#614090
Mendeliome v0.5670 MYH6 Zornitza Stark Publications for gene: MYH6 were set to
Mendeliome v0.5669 MYH6 Zornitza Stark Mode of inheritance for gene: MYH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5668 MYH6 Zornitza Stark reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32656206, 31638415, 29969989, 29536580, 29332214, 30681346; Phenotypes: Atrial septal defect 3 MIM#614089, Congenital heart disease, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.57 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Macrocephaly_Megalencephaly v0.57 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.57 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Macrocephaly_Megalencephaly v0.56 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Macrocephaly_Megalencephaly v0.55 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.54 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.60 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Overgrowth v0.60 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Overgrowth v0.60 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Overgrowth v0.59 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Overgrowth v0.58 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.57 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3281 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Intellectual disability syndromic and non-syndromic v0.3281 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3281 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Intellectual disability syndromic and non-syndromic v0.3280 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Intellectual disability syndromic and non-syndromic v0.3279 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3278 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5668 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Mendeliome v0.5668 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Mendeliome v0.5668 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Mendeliome v0.5667 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Mendeliome v0.5666 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5665 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5665 POR Elena Savva reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27068427; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.5665 MYH6 Elena Savva reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 3 MIM#614089, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5665 EZH2 Elena Savva reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29244146; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.3278 DPYD Elena Savva reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29152729; Phenotypes: 5-fluorouracil toxicity MIM#274270, Dihydropyrimidine dehydrogenase deficiency MIM#274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 23228021; 31572517; 32174980
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612
Review for gene: COG5 was set to GREEN
Added comment: More than 5 unrelated families reported. Intellectual disability is part of the phenotype.
Sources: Expert Review
Mendeliome v0.5665 COG6 Zornitza Stark Marked gene: COG6 as ready
Mendeliome v0.5665 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Mendeliome v0.5665 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type IIl, MIM# 614576
Mendeliome v0.5664 COG6 Zornitza Stark Publications for gene: COG6 were set to
Mendeliome v0.5663 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5662 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl, MIM# 614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Marked gene: COG6 as ready
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type IIl, MIM# 614576
Congenital Disorders of Glycosylation v0.242 COG6 Zornitza Stark Publications for gene: COG6 were set to
Congenital Disorders of Glycosylation v0.241 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.240 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl, MIM# 614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Marked gene: COG5 as ready
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Publications for gene: COG5 were set to
Additional findings_Paediatric v0.174 COG5 Zornitza Stark Classified gene: COG5 as Green List (high evidence)
Additional findings_Paediatric v0.174 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.173 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Marked gene: COG5 as ready
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Intellectual disability syndromic and non-syndromic v0.3277 COG5 Zornitza Stark Publications for gene: COG5 were set to
Intellectual disability syndromic and non-syndromic v0.3276 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3275 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5662 COG5 Zornitza Stark Marked gene: COG5 as ready
Mendeliome v0.5662 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Mendeliome v0.5662 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Mendeliome v0.5661 COG5 Zornitza Stark Publications for gene: COG5 were set to
Mendeliome v0.5660 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5659 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Marked gene: COG5 as ready
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Congenital Disorders of Glycosylation v0.239 COG5 Zornitza Stark Publications for gene: COG5 were set to
Congenital Disorders of Glycosylation v0.238 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.237 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5659 FIGLA Zornitza Stark Marked gene: FIGLA as ready
Mendeliome v0.5659 FIGLA Zornitza Stark Gene: figla has been classified as Green List (High Evidence).
Mendeliome v0.5659 FIGLA Zornitza Stark Phenotypes for gene: FIGLA were changed from to Premature ovarian failure 6, MIM# 612310
Mendeliome v0.5658 FIGLA Zornitza Stark Publications for gene: FIGLA were set to
Mendeliome v0.5657 FIGLA Zornitza Stark Mode of inheritance for gene: FIGLA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5656 FIGLA Zornitza Stark reviewed gene: FIGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499083, 25314148, 29914564; Phenotypes: Premature ovarian failure 6, MIM# 612310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Marked gene: FIGLA as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Gene: figla has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Phenotypes for gene: FIGLA were changed from Premature ovarian failure,612310 to Premature ovarian failure, MIM#612310
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.179 FIGLA Zornitza Stark Publications for gene: FIGLA were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.178 FIGLA Zornitza Stark Mode of inheritance for gene: FIGLA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 FIGLA Zornitza Stark reviewed gene: FIGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499083, 25314148, 29914564; Phenotypes: Premature ovarian failure 6, MIM# 612310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5656 ESR1 Zornitza Stark Marked gene: ESR1 as ready
Mendeliome v0.5656 ESR1 Zornitza Stark Gene: esr1 has been classified as Green List (High Evidence).
Mendeliome v0.5656 ESR1 Zornitza Stark Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363
Mendeliome v0.5655 ESR1 Zornitza Stark Publications for gene: ESR1 were set to
Mendeliome v0.5654 ESR1 Zornitza Stark Mode of inheritance for gene: ESR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5653 ESR1 Zornitza Stark reviewed gene: ESR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27754803, 23841731, 24152274; Phenotypes: Estrogen resistance, MIM# 615363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Marked gene: ESR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Gene: esr1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.176 ESR1 Zornitza Stark Publications for gene: ESR1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.175 ESR1 Zornitza Stark Mode of inheritance for gene: ESR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 ESR1 Zornitza Stark reviewed gene: ESR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27754803, 23841731, 24152274; Phenotypes: Estrogen resistance, MIM# 615363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark Marked gene: EIF2B4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Marked gene: CYP19A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Gene: cyp19a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Publications for gene: CYP19A1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP19A1 Zornitza Stark reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164303; Phenotypes: Aromatase deficiency, MIM# 613546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 BTG4 Zornitza Stark Classified gene: BTG4 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 BTG4 Zornitza Stark Gene: btg4 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 BTG4 Zornitza Stark edited their review of gene: BTG4: Added comment: Normal ovarian function, presents with infertility.; Changed rating: RED
Cardiomyopathy_Paediatric v0.42 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Cardiomyopathy_Paediatric v0.41 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Hereditary Spastic Paraplegia v0.157 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Hereditary Spastic Paraplegia v0.156 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Intellectual disability syndromic and non-syndromic v0.3275 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Intellectual disability syndromic and non-syndromic v0.3274 SHMT2 Zornitza Stark reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactylyCongenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.228 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Callosome v0.227 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Mitochondrial disease v0.560 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Mitochondrial disease v0.559 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Microcephaly v0.513 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Microcephaly v0.512 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Mendeliome v0.5653 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Mendeliome v0.5652 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Polymicrogyria and Schizencephaly v0.156 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Polymicrogyria and Schizencephaly v0.155 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.171 CHD7 Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.171 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834967; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5652 BMP15 Zornitza Stark commented on gene: BMP15: Only affects females, variants inherited from asymptomatic fathers. Over 50 individuals reported.
Differences of Sex Development v0.182 BMP15 Zornitza Stark Marked gene: BMP15 as ready
Differences of Sex Development v0.182 BMP15 Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence).
Differences of Sex Development v0.182 BMP15 Zornitza Stark Phenotypes for gene: BMP15 were changed from to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510
Differences of Sex Development v0.181 BMP15 Zornitza Stark Publications for gene: BMP15 were set to
Differences of Sex Development v0.180 BMP15 Zornitza Stark Mode of inheritance for gene: BMP15 was changed from Unknown to Other
Differences of Sex Development v0.179 BMP15 Zornitza Stark reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other
Mendeliome v0.5652 BMP15 Zornitza Stark Marked gene: BMP15 as ready
Mendeliome v0.5652 BMP15 Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence).
Mendeliome v0.5652 BMP15 Zornitza Stark Phenotypes for gene: BMP15 were changed from to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510
Mendeliome v0.5651 BMP15 Zornitza Stark Publications for gene: BMP15 were set to
Mendeliome v0.5650 BMP15 Zornitza Stark Mode of inheritance for gene: BMP15 was changed from Unknown to Other
Mendeliome v0.5649 BMP15 Zornitza Stark reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Marked gene: BMP15 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Phenotypes for gene: BMP15 were changed from Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510 to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.169 BMP15 Zornitza Stark Publications for gene: BMP15 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.168 BMP15 Zornitza Stark Mode of inheritance for gene: BMP15 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 Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 BMP15 Zornitza Stark reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Marked gene: AMHR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Gene: amhr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Phenotypes for gene: AMHR2 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.166 AMHR2 Zornitza Stark Publications for gene: AMHR2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.165 AMHR2 Zornitza Stark Mode of inheritance for gene: AMHR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.164 AMHR2 Zornitza Stark Classified gene: AMHR2 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.164 AMHR2 Zornitza Stark Gene: amhr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMHR2 Zornitza Stark reviewed gene: AMHR2: Rating: RED; Mode of pathogenicity: None; Publications: 24912417, 24146295; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Marked gene: AMH as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Gene: amh has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Phenotypes for gene: AMH were changed from to Primary ovarian insuffiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.162 AMH Zornitza Stark Publications for gene: AMH were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.161 AMH Zornitza Stark Mode of inheritance for gene: AMH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.160 AMH Zornitza Stark Classified gene: AMH as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.160 AMH Zornitza Stark Gene: amh has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AMH Zornitza Stark reviewed gene: AMH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25750103; Phenotypes: Primary ovarian insuffiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Marked gene: AIRE as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.158 AIRE Zornitza Stark Mode of pathogenicity for gene: AIRE was changed from to Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.157 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark changed review comment from: Hypogonadism is a feature.; to: Hypogonadism is a feature. Multiple families with bi-allelic variants reported.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark edited their review of gene: AIRE: Changed publications: 16965330, 19758376, 19807739
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Marked gene: NOG as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Gene: nog has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Phenotypes for gene: NOG were changed from to Symphalangism, proximal, 1A MIM#185800
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.155 NOG Bryony Thompson Publications for gene: NOG were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.154 NOG Bryony Thompson Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 NOG Bryony Thompson reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: 15066478, 22088931, 17381491; Phenotypes: Symphalangism, proximal, 1A MIM#185800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5649 PANX1 Zornitza Stark Marked gene: PANX1 as ready
Mendeliome v0.5649 PANX1 Zornitza Stark Gene: panx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5649 PANX1 Zornitza Stark Classified gene: PANX1 as Amber List (moderate evidence)
Mendeliome v0.5649 PANX1 Zornitza Stark Gene: panx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5648 PANX1 Zornitza Stark gene: PANX1 was added
gene: PANX1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PANX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANX1 were set to 30918116; 32838805
Phenotypes for gene: PANX1 were set to Oocyte maturation defect 7, MIM# 618550
Review for gene: PANX1 was set to AMBER
Added comment: Two unrelated families, some functional data. Clinical presentation is with infertility.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Marked gene: PANX1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Gene: panx1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Phenotypes for gene: PANX1 were changed from to Oocyte maturation defect 7, MIM# 618550
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.152 PANX1 Zornitza Stark Publications for gene: PANX1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.151 PANX1 Zornitza Stark Mode of inheritance for gene: PANX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 PANX1 Zornitza Stark reviewed gene: PANX1: Rating: RED; Mode of pathogenicity: None; Publications: 30918116, 32838805; Phenotypes: Oocyte maturation defect 7, MIM# 618550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 FXPOI Bryony Thompson Classified STR: FXPOI as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 FXPOI Bryony Thompson Str: fxpoi has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.149 FXPOI Bryony Thompson STR: FXPOI was added
STR: FXPOI was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
5'UTR tags were added to STR: FXPOI.
Mode of inheritance for STR: FXPOI 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 STR: FXPOI were set to 20301558
Phenotypes for STR: FXPOI were set to Premature ovarian failure 1 MIM#311360
Review for STR: FXPOI was set to GREEN
STR: FXPOI was marked as clinically relevant
STR: FXPOI was marked as current diagnostic
Added comment: HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]
RNA-mediated toxicity may result in the POI phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.
Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats
Premutation - risk of FXPOI: ~55 to ~200 repeats
Full mutation - fragile X syndrome (FXS): >200 repeats
It is estimated that 21% of women who carry a premutation develop FXPOI. The association between repeat size of the premutation allele and FXPOI is nonlinear; women with 80-99 repeats are at greatest risk for FXPOI.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Marked gene: FMR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Gene: fmr1 has been removed from the panel.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Classified gene: FMR1 as No list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Added comment: Comment on list classification: Premature ovarian failure caused by an STR in this gene, which has been added under STRs
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Gene: fmr1 has been removed from the panel.
Mendeliome v0.5647 NANOS3 Bryony Thompson Marked gene: NANOS3 as ready
Mendeliome v0.5647 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5647 NANOS3 Bryony Thompson Classified gene: NANOS3 as Amber List (moderate evidence)
Mendeliome v0.5647 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.147 NANOS3 Bryony Thompson Mode of inheritance for gene: NANOS3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.146 NANOS3 Bryony Thompson Publications for gene: NANOS3 were set to
Mendeliome v0.5646 NANOS3 Bryony Thompson gene: NANOS3 was added
gene: NANOS3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NANOS3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NANOS3 were set to 25054146; 24091668
Phenotypes for gene: NANOS3 were set to Primary ovarian insufficiency
Review for gene: NANOS3 was set to AMBER
Added comment: A homozygous missense (p.Glu120Lys) was identified in two Brazillian sisters with primary amenorrhea, and supporting in vitro functional assays. A heterozygous missense (p.Arg153Trp) was identified in a Chinese woman with POI, with supporting in vitro functional assays. Also, supporting null mouse model.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.145 NANOS3 Bryony Thompson Phenotypes for gene: NANOS3 were changed from to Primary ovarian insufficiency
Mendeliome v0.5645 MSH5 Bryony Thompson Marked gene: MSH5 as ready
Mendeliome v0.5645 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5645 MSH5 Bryony Thompson Classified gene: MSH5 as Amber List (moderate evidence)
Mendeliome v0.5645 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5644 MSH5 Bryony Thompson gene: MSH5 was added
gene: MSH5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MSH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH5 were set to 28175301; 9916805; 24970489
Phenotypes for gene: MSH5 were set to Premature ovarian failure 13 MIM#617442
Review for gene: MSH5 was set to AMBER
Added comment: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature
Mendeliome v0.5643 PATL2 Zornitza Stark Marked gene: PATL2 as ready
Mendeliome v0.5643 PATL2 Zornitza Stark Gene: patl2 has been classified as Green List (High Evidence).
Mendeliome v0.5643 PATL2 Zornitza Stark Classified gene: PATL2 as Green List (high evidence)
Mendeliome v0.5643 PATL2 Zornitza Stark Gene: patl2 has been classified as Green List (High Evidence).
Mendeliome v0.5642 PATL2 Zornitza Stark gene: PATL2 was added
gene: PATL2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PATL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PATL2 were set to 28965844; 28965849; 32048119; 30765866
Phenotypes for gene: PATL2 were set to Oocyte maturation defect 4, MIM# 617743
Review for gene: PATL2 was set to GREEN
Added comment: More than 5 unrelated families reported, presentation is with infertility.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Marked gene: PATL2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Gene: patl2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Phenotypes for gene: PATL2 were changed from to Oocyte maturation defect 4, MIM# 617743
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.143 PATL2 Zornitza Stark Publications for gene: PATL2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.142 PATL2 Zornitza Stark Mode of inheritance for gene: PATL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 PATL2 Zornitza Stark edited their review of gene: PATL2: Changed rating: RED
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 PATL2 Zornitza Stark reviewed gene: PATL2: Rating: ; Mode of pathogenicity: None; Publications: 28965844, 28965849, 32048119, 30765866; Phenotypes: Oocyte maturation defect 4, MIM# 617743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5641 FANCM Bryony Thompson Phenotypes for gene: FANCM were changed from Spermatogenic failure 28, MIM# 618086 to Spermatogenic failure 28, MIM# 618086; Premature ovarian failure 15 MIM#618096
Mendeliome v0.5640 FANCM Bryony Thompson Publications for gene: FANCM were set to 30075111; 29895858; 28837162
Mendeliome v0.5639 FANCM Bryony Thompson Classified gene: FANCM as Green List (high evidence)
Mendeliome v0.5639 FANCM Bryony Thompson Added comment: Comment on list classification: Green for POI
Mendeliome v0.5639 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Mendeliome v0.5638 FANCM Bryony Thompson reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29231814, 28837162, 33036707, 25010009; Phenotypes: Premature ovarian failure 15 MIM#618096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.5638 EIF4ENIF1 Bryony Thompson Marked gene: EIF4ENIF1 as ready
Mendeliome v0.5638 EIF4ENIF1 Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5638 PGRMC1 Zornitza Stark Marked gene: PGRMC1 as ready
Mendeliome v0.5638 PGRMC1 Zornitza Stark Gene: pgrmc1 has been classified as Red List (Low Evidence).
Mendeliome v0.5638 PGRMC1 Zornitza Stark gene: PGRMC1 was added
gene: PGRMC1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PGRMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PGRMC1 were set to 25246111; 18782852
Phenotypes for gene: PGRMC1 were set to Premature ovarian failure
Review for gene: PGRMC1 was set to RED
Added comment: One family with translocation reported and two affected individuals. Another individual identified as part of a cohort with a missense variant (H165R), but the variant is present in >200 hets in gnomad. Subsequent cohort study did not find an association.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Marked gene: PGRMC1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Gene: pgrmc1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Phenotypes for gene: PGRMC1 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.139 PGRMC1 Zornitza Stark Publications for gene: PGRMC1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.138 PGRMC1 Zornitza Stark Mode of inheritance for gene: PGRMC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 PGRMC1 Zornitza Stark edited their review of gene: PGRMC1: Changed rating: RED
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 PGRMC1 Zornitza Stark reviewed gene: PGRMC1: Rating: ; Mode of pathogenicity: None; Publications: 25246111, 18782852; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5637 EIF4ENIF1 Bryony Thompson Classified gene: EIF4ENIF1 as Amber List (moderate evidence)
Mendeliome v0.5637 EIF4ENIF1 Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5636 EIF4ENIF1 Bryony Thompson gene: EIF4ENIF1 was added
gene: EIF4ENIF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF4ENIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF4ENIF1 were set to 31810472; 23902945; 33095795
Phenotypes for gene: EIF4ENIF1 were set to Primary ovarian insufficiency
Review for gene: EIF4ENIF1 was set to AMBER
Added comment: 3 families: A missense (p.Q842P) segregated between a mother and daughter with diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI). A nonsense variant (p.Ser429Ter) segregated in 7 affected women over 3 consecutive generations with early menopause at approximately age 30 years. A missense (p.Lys669Arg) was identified in a Brazilian case with POI.
Sources: Literature
Mendeliome v0.5635 POF1B Zornitza Stark Marked gene: POF1B as ready
Mendeliome v0.5635 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5635 POF1B Zornitza Stark Phenotypes for gene: POF1B were changed from to Premature ovarian failure 2B, MIM# 300604
Mendeliome v0.5634 POF1B Zornitza Stark Publications for gene: POF1B were set to
Mendeliome v0.5633 POF1B Zornitza Stark Mode of inheritance for gene: POF1B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5632 POF1B Zornitza Stark Classified gene: POF1B as Amber List (moderate evidence)
Mendeliome v0.5632 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5631 DIAPH2 Bryony Thompson Marked gene: DIAPH2 as ready
Mendeliome v0.5631 DIAPH2 Bryony Thompson Gene: diaph2 has been classified as Red List (Low Evidence).
Mendeliome v0.5631 POF1B Zornitza Stark reviewed gene: POF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16773570, 25676666; Phenotypes: Premature ovarian failure 2B, MIM# 300604; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Marked gene: POF1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Phenotypes for gene: POF1B were changed from to Premature ovarian failure 2B, MIM# 300604
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.136 POF1B Zornitza Stark Publications for gene: POF1B were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.135 POF1B Zornitza Stark Mode of inheritance for gene: POF1B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5631 DIAPH2 Bryony Thompson Classified gene: DIAPH2 as Red List (low evidence)
Mendeliome v0.5631 DIAPH2 Bryony Thompson Gene: diaph2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.134 POF1B Zornitza Stark Classified gene: POF1B as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.134 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POF1B Zornitza Stark reviewed gene: POF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16773570, 25676666; Phenotypes: Premature ovarian failure 2B, MIM# 300604; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5630 DIAPH2 Bryony Thompson reviewed gene: DIAPH2: Rating: RED; Mode of pathogenicity: None; Publications: 9497258, 30689869, 26175800, 11129329; Phenotypes: ?Premature ovarian failure 2A MIM#300511; 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 v0.5630 CCDC141 Bryony Thompson Marked gene: CCDC141 as ready
Mendeliome v0.5630 CCDC141 Bryony Thompson Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5630 POU5F1 Zornitza Stark gene: POU5F1 was added
gene: POU5F1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POU5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU5F1 were set to 21273125
Phenotypes for gene: POU5F1 were set to Premature ovarian failure
Review for gene: POU5F1 was set to RED
Added comment: Single individual reported in 2011 and a missense variant.
Sources: Expert list
Mendeliome v0.5629 CCDC141 Bryony Thompson Classified gene: CCDC141 as Amber List (moderate evidence)
Mendeliome v0.5629 CCDC141 Bryony Thompson Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5628 CCDC141 Bryony Thompson gene: CCDC141 was added
gene: CCDC141 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC141 was set to Unknown
Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046
Phenotypes for gene: CCDC141 were set to Anosmic hypogonadotropic hypogonadism
Review for gene: CCDC141 was set to AMBER
Added comment: A consanguineous family had a homozygous nonsense variant, but also had a homozygous missense in FEZF1. 3 other families reported with heterozygous variants, but other variants in other genes present. In an olfactory mouse model, Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Marked gene: POU5F1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Gene: pou5f1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Phenotypes for gene: POU5F1 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.132 POU5F1 Zornitza Stark Publications for gene: POU5F1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.131 POU5F1 Zornitza Stark Mode of inheritance for gene: POU5F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 POU5F1 Zornitza Stark reviewed gene: POU5F1: Rating: RED; Mode of pathogenicity: None; Publications: 21273125; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5627 SGO2 Zornitza Stark Marked gene: SGO2 as ready
Mendeliome v0.5627 SGO2 Zornitza Stark Gene: sgo2 has been classified as Red List (Low Evidence).
Mendeliome v0.5627 SGO2 Zornitza Stark gene: SGO2 was added
gene: SGO2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGO2 were set to 27629923
Phenotypes for gene: SGO2 were set to Perrault syndrome
Review for gene: SGO2 was set to RED
Added comment: Single affected individual reported, though deafness was thought to be explained by a CLDN14 variant. Protein is known to be involved in meiosis.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Marked gene: SGO2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Gene: sgo2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Phenotypes for gene: SGO2 were changed from to Perrault syndrome
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.129 SGO2 Zornitza Stark Publications for gene: SGO2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.128 SGO2 Zornitza Stark Mode of inheritance for gene: SGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 SGO2 Zornitza Stark reviewed gene: SGO2: Rating: RED; Mode of pathogenicity: None; Publications: 27629923; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5626 SOHLH2 Zornitza Stark Marked gene: SOHLH2 as ready
Mendeliome v0.5626 SOHLH2 Zornitza Stark Gene: sohlh2 has been classified as Red List (Low Evidence).
Mendeliome v0.5626 SOHLH2 Zornitza Stark gene: SOHLH2 was added
gene: SOHLH2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SOHLH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOHLH2 were set to 24524832; 19014927
Phenotypes for gene: SOHLH2 were set to Premature ovarian failure
Review for gene: SOHLH2 was set to RED
Added comment: Heterozygous variants in this gene found to be enriched in a cohort of women with POF, substantial data including mouse models implicating this gene in infertility but paucity of well characterised cases.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Marked gene: NANOS3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Classified gene: NANOS3 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 NANOS3 Bryony Thompson reviewed gene: NANOS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25054146, 24091668; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Marked gene: SOHLH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Gene: sohlh2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Phenotypes for gene: SOHLH2 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.125 SOHLH2 Zornitza Stark Publications for gene: SOHLH2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.124 SOHLH2 Zornitza Stark Mode of inheritance for gene: SOHLH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SOHLH2 Zornitza Stark reviewed gene: SOHLH2: Rating: RED; Mode of pathogenicity: None; Publications: 24524832, 19014927; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5625 SYCE1 Zornitza Stark Marked gene: SYCE1 as ready
Mendeliome v0.5625 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Mendeliome v0.5625 SYCE1 Zornitza Stark Classified gene: SYCE1 as Green List (high evidence)
Mendeliome v0.5625 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Mendeliome v0.5624 SYCE1 Zornitza Stark gene: SYCE1 was added
gene: SYCE1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SYCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCE1 were set to 25062452; 32917591; 32741963; 32402064; 31925770; 31916078
Phenotypes for gene: SYCE1 were set to Premature ovarian failure 12, MIM# 616947; Spermatogenic failure 15 ,MIM#616950
Review for gene: SYCE1 was set to GREEN
Added comment: More than 5 families reported with POF/SF and bi-allelic variants in this gene. Mechanism is thought to be disruption of meiosis, mouse model data also supports gene-disease association.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Marked gene: SYCE1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Phenotypes for gene: SYCE1 were changed from to Premature ovarian failure 12, MIM# 616947
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.122 SYCE1 Zornitza Stark Publications for gene: SYCE1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.121 SYCE1 Zornitza Stark Mode of inheritance for gene: SYCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.120 SYCE1 Zornitza Stark Classified gene: SYCE1 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.120 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 SYCE1 Zornitza Stark reviewed gene: SYCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25062452, 32917591, 32741963, 32402064, 31925770, 31916078; Phenotypes: Premature ovarian failure 12, MIM# 616947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Marked gene: MSH5 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Phenotypes for gene: MSH5 were changed from to Premature ovarian failure 13 MIM#617442
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.118 MSH5 Bryony Thompson Publications for gene: MSH5 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.117 MSH5 Bryony Thompson Classified gene: MSH5 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.117 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 MSH5 Bryony Thompson reviewed gene: MSH5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28175301, 9916805, 24970489; Phenotypes: Premature ovarian failure 13 MIM#617442; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5623 DACH2 Zornitza Stark Marked gene: DACH2 as ready
Mendeliome v0.5623 DACH2 Zornitza Stark Gene: dach2 has been classified as Red List (Low Evidence).
Mendeliome v0.5623 DACH2 Zornitza Stark gene: DACH2 was added
gene: DACH2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACH2 were set to 15459172
Phenotypes for gene: DACH2 were set to Primary ovarian insufficiency
Review for gene: DACH2 was set to RED
Added comment: In a small candidate gene study, missense were more common in POI cases than controls (p= 0.0125). 5 missense reported in 7 POI cases, although 2 of the missense are too common in gnomAD for a dominant disorder. No other reports with evidence for an association with POI.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 DACH2 Zornitza Stark Marked gene: DACH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 DACH2 Zornitza Stark Gene: dach2 has been classified as Red List (Low Evidence).
Mendeliome v0.5622 TUBB8 Zornitza Stark Marked gene: TUBB8 as ready
Mendeliome v0.5622 TUBB8 Zornitza Stark Gene: tubb8 has been classified as Green List (High Evidence).
Mendeliome v0.5622 TUBB8 Zornitza Stark Phenotypes for gene: TUBB8 were changed from to Oocyte maturation defect 2, MIM# 616780
Mendeliome v0.5621 TUBB8 Zornitza Stark Publications for gene: TUBB8 were set to
Mendeliome v0.5620 TUBB8 Zornitza Stark Mode of inheritance for gene: TUBB8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5619 TUBB8 Zornitza Stark reviewed gene: TUBB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789871, 27273344; Phenotypes: Oocyte maturation defect 2, MIM# 616780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5619 WEE2 Zornitza Stark Marked gene: WEE2 as ready
Mendeliome v0.5619 WEE2 Zornitza Stark Gene: wee2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Marked gene: TUBB8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Gene: tubb8 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Phenotypes for gene: TUBB8 were changed from to Oocyte maturation defect 2, MIM# 616780
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.115 TUBB8 Zornitza Stark Publications for gene: TUBB8 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.114 TUBB8 Zornitza Stark Mode of inheritance for gene: TUBB8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 TUBB8 Zornitza Stark reviewed gene: TUBB8: Rating: RED; Mode of pathogenicity: None; Publications: 26789871, 27273344; Phenotypes: Oocyte maturation defect 2, MIM# 616780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5619 WEE2 Zornitza Stark Phenotypes for gene: WEE2 were changed from to Oocyte maturation defect 5, MIM# 617996
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Marked gene: MRPS22 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Gene: mrps22 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Classified gene: MRPS22 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Gene: mrps22 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 MRPS22 Bryony Thompson reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 29566152, 31042289; Phenotypes: Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5618 WEE2 Zornitza Stark Publications for gene: WEE2 were set to
Mendeliome v0.5617 WEE2 Zornitza Stark Mode of inheritance for gene: WEE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5616 WEE2 Zornitza Stark reviewed gene: WEE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606300, 30628060; Phenotypes: Oocyte maturation defect 5, MIM# 617996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 MRPS22 Bryony Thompson Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Marked gene: WEE2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Gene: wee2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Phenotypes for gene: WEE2 were changed from to Oocyte maturation defect 5, MIM# 617996
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.111 WEE2 Zornitza Stark Publications for gene: WEE2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.110 WEE2 Zornitza Stark Mode of inheritance for gene: WEE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 WEE2 Zornitza Stark reviewed gene: WEE2: Rating: RED; Mode of pathogenicity: None; Publications: 29606300, 30628060; Phenotypes: Oocyte maturation defect 5, MIM# 617996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 MRPS22 Bryony Thompson reviewed gene: MRPS22: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 7 618117; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 EIF4ENIF1 Bryony Thompson Phenotypes for gene: EIF4ENIF1 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.108 EIF4ENIF1 Bryony Thompson Publications for gene: EIF4ENIF1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.107 EIF4ENIF1 Bryony Thompson Mode of inheritance for gene: EIF4ENIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.106 EIF4ENIF1 Bryony Thompson Classified gene: EIF4ENIF1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.106 EIF4ENIF1 Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.105 EIF4ENIF1 Bryony Thompson reviewed gene: EIF4ENIF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31810472, 23902945, 33095795; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.105 DACH2 Bryony Thompson Phenotypes for gene: DACH2 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.104 DACH2 Bryony Thompson Publications for gene: DACH2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.103 DACH2 Bryony Thompson Mode of inheritance for gene: DACH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 DACH2 Bryony Thompson reviewed gene: DACH2: Rating: RED; Mode of pathogenicity: None; Publications: 15459172; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 HNF1B Bryony Thompson Marked gene: HNF1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 HNF1B Bryony Thompson Gene: hnf1b has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Marked gene: GDF9 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Gene: gdf9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Publications for gene: GDF9 were set to 29044499; 8849725
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.101 GDF9 Bryony Thompson Classified gene: GDF9 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.101 GDF9 Bryony Thompson Gene: gdf9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 GDF9 Bryony Thompson edited their review of gene: GDF9: Added comment: PMID: 33036707 - Additional compound het case with primary amenorrhea and was diagnosed with non-syndromic POI and supporting functional assays.; Changed rating: GREEN; Changed publications: 29044499, 8849725, 33036707
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Marked gene: FANCM as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Phenotypes for gene: FANCM were changed from to Premature ovarian failure 15 MIM#618096
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.99 FANCM Bryony Thompson Publications for gene: FANCM were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.98 FANCM Bryony Thompson Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.97 FANCM Bryony Thompson Classified gene: FANCM as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.97 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 FANCM Bryony Thompson reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29231814, 28837162, 33036707, 25010009; Phenotypes: Premature ovarian failure 15 MIM#618096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5616 ZP1 Zornitza Stark Marked gene: ZP1 as ready
Mendeliome v0.5616 ZP1 Zornitza Stark Gene: zp1 has been classified as Green List (High Evidence).
Mendeliome v0.5616 ZP1 Zornitza Stark Classified gene: ZP1 as Green List (high evidence)
Mendeliome v0.5616 ZP1 Zornitza Stark Gene: zp1 has been classified as Green List (High Evidence).
Mendeliome v0.5615 ZP1 Zornitza Stark gene: ZP1 was added
gene: ZP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ZP1 were set to 24670168; 30810869; 32573113; 33272616
Phenotypes for gene: ZP1 were set to Oocyte maturation defect 1, MIM# 615774
Review for gene: ZP1 was set to GREEN
Added comment: Multiple unrelated individuals reported, presents as primary infertility.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Marked gene: ZP1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Gene: zp1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Phenotypes for gene: ZP1 were changed from to Oocyte maturation defect 1, MIM# 615774
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.95 ZP1 Zornitza Stark Publications for gene: ZP1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.94 ZP1 Zornitza Stark Mode of inheritance for gene: ZP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP1 Zornitza Stark reviewed gene: ZP1: Rating: RED; Mode of pathogenicity: None; Publications: 24670168, 30810869, 32573113, 33272616; Phenotypes: Oocyte maturation defect 1, MIM# 615774; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5614 ZP2 Zornitza Stark Phenotypes for gene: ZP2 were changed from Female infertility to Oocyte maturation defect 6, MIM# 618353; Female infertility
Mendeliome v0.5613 ZP2 Zornitza Stark edited their review of gene: ZP2: Changed phenotypes: Oocyte maturation defect 6, MIM# 618353, Female infertility
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Marked gene: ZP2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Gene: zp2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Phenotypes for gene: ZP2 were changed from to Oocyte maturation defect 6, MIM# 618353; Female infertility
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.92 ZP2 Zornitza Stark Publications for gene: ZP2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.91 ZP2 Zornitza Stark Mode of inheritance for gene: ZP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP2 Zornitza Stark changed review comment from: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida.
Sources: Literature; to: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida. Presents with primary infertility rather than POI/POF.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP2 Zornitza Stark edited their review of gene: ZP2: Changed rating: RED
Mendeliome v0.5613 ZP3 Zornitza Stark Marked gene: ZP3 as ready
Mendeliome v0.5613 ZP3 Zornitza Stark Gene: zp3 has been classified as Green List (High Evidence).
Mendeliome v0.5613 ZP3 Zornitza Stark Classified gene: ZP3 as Green List (high evidence)
Mendeliome v0.5613 ZP3 Zornitza Stark Gene: zp3 has been classified as Green List (High Evidence).
Mendeliome v0.5612 ZP3 Zornitza Stark gene: ZP3 was added
gene: ZP3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZP3 were set to 28886344; 30810869; 33272616; 32573113
Phenotypes for gene: ZP3 were set to Oocyte maturation defect 3, MIM# 617712
Review for gene: ZP3 was set to GREEN
Added comment: Oocyte maturation defect with normal ovarian reserves and menstrual cycles, presents as infertility.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Marked gene: ZP3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Gene: zp3 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Phenotypes for gene: ZP3 were changed from to Oocyte maturation defect 3, MIM# 617712
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.89 ZP3 Zornitza Stark Publications for gene: ZP3 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.88 ZP3 Zornitza Stark Mode of inheritance for gene: ZP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ZP3 Zornitza Stark reviewed gene: ZP3: Rating: RED; Mode of pathogenicity: None; Publications: 28886344, 30810869; Phenotypes: Oocyte maturation defect 3, MIM# 617712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Marked gene: ERAL1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Gene: eral1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Phenotypes for gene: ERAL1 were changed from to Perrault syndrome 6, MIM# 617565
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.86 ERAL1 Bryony Thompson Publications for gene: ERAL1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.85 ERAL1 Bryony Thompson Mode of inheritance for gene: ERAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.84 ERAL1 Bryony Thompson Classified gene: ERAL1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.84 ERAL1 Bryony Thompson Gene: eral1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Marked gene: BTG4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Gene: btg4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Publications for gene: BTG4 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.82 BTG4 Bryony Thompson Phenotypes for gene: BTG4 were changed from to Oocyte maturation defect, MIM#619009
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.81 BTG4 Bryony Thompson Mode of inheritance for gene: BTG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.80 BTG4 Bryony Thompson Classified gene: BTG4 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.80 BTG4 Bryony Thompson Gene: btg4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.79 GDF9 Bryony Thompson Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14 MIM#618014
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.78 GDF9 Bryony Thompson Publications for gene: GDF9 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.77 GDF9 Bryony Thompson Mode of inheritance for gene: GDF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 FEZF1 Bryony Thompson Marked gene: FEZF1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 FEZF1 Bryony Thompson Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Marked gene: PROKR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Gene: prokr2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.75 PROKR2 Bryony Thompson Mode of inheritance for gene: PROKR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Marked gene: NUP107 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Gene: nup107 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Phenotypes for gene: NUP107 were changed from to Ovarian dysgenesis 6 MIM#618078; primary amenorrhea; hypogonadotrophic hypogonadism
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.73 NUP107 Bryony Thompson Publications for gene: NUP107 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.72 NUP107 Bryony Thompson Mode of inheritance for gene: NUP107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NUP107 Bryony Thompson reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 32684853, 26485283, 29363275; Phenotypes: Ovarian dysgenesis 6 MIM#618078, primary amenorrhea, hypogonadotrophic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Marked gene: NR5A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Gene: nr5a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Mode of inheritance for gene: NR5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.70 NR5A1 Bryony Thompson Publications for gene: NR5A1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.69 NOBOX Bryony Thompson Mode of inheritance for gene: NOBOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Marked gene: LARS2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Gene: lars2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Publications for gene: LARS2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Marked gene: KISS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.66 KISS1 Bryony Thompson Publications for gene: KISS1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.65 KISS1 Bryony Thompson Mode of inheritance for gene: KISS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.64 KISS1 Bryony Thompson Classified gene: KISS1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.64 KISS1 Bryony Thompson Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Marked gene: HFM1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Gene: hfm1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Publications for gene: HFM1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Marked gene: FOXL2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Gene: foxl2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Publications for gene: FOXL2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Marked gene: FGFR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Gene: fgfr1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Phenotypes for gene: FGFR1 were changed from to Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.60 FGFR1 Bryony Thompson Publications for gene: FGFR1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.59 FGFR1 Bryony Thompson Mode of inheritance for gene: FGFR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 FGF8 Bryony Thompson Marked gene: FGF8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 FGF8 Bryony Thompson Gene: fgf8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Marked gene: CLPP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Gene: clpp has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Publications for gene: CLPP were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Marked gene: AARS2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Publications for gene: AARS2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.56 AIRE Bryony Thompson Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.55 AIRE Bryony Thompson Mode of inheritance for gene: AIRE was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP3 Bryony Thompson gene: ZP3 was added
gene: ZP3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP3 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP2 Bryony Thompson gene: ZP2 was added
gene: ZP2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP1 Bryony Thompson gene: ZP1 was added
gene: ZP1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 WEE2 Bryony Thompson gene: WEE2 was added
gene: WEE2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: WEE2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 TUBB8 Bryony Thompson gene: TUBB8 was added
gene: TUBB8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: TUBB8 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SYCE1 Bryony Thompson gene: SYCE1 was added
gene: SYCE1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SYCE1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 STAG3 Bryony Thompson Source Genetic Health QLD was added to STAG3.
Mode of inheritance for gene STAG3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SOHLH2 Bryony Thompson gene: SOHLH2 was added
gene: SOHLH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SOHLH2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SOHLH1 Bryony Thompson Source Genetic Health QLD was added to SOHLH1.
Mode of inheritance for gene SOHLH1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SGO2 Bryony Thompson gene: SGO2 was added
gene: SGO2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SGO2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 POU5F1 Bryony Thompson gene: POU5F1 was added
gene: POU5F1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: POU5F1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 POF1B Bryony Thompson gene: POF1B was added
gene: POF1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: POF1B was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PGRMC1 Bryony Thompson gene: PGRMC1 was added
gene: PGRMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PGRMC1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PATL2 Bryony Thompson gene: PATL2 was added
gene: PATL2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PATL2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PANX1 Bryony Thompson gene: PANX1 was added
gene: PANX1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PANX1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NUP107 Bryony Thompson Source Genetic Health QLD was added to NUP107.
Mode of inheritance for gene NUP107 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NR5A1 Bryony Thompson Source Genetic Health QLD was added to NR5A1.
Mode of inheritance for gene NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NOG Bryony Thompson gene: NOG was added
gene: NOG was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: NOG was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NOBOX Bryony Thompson Source Genetic Health QLD was added to NOBOX.
Mode of inheritance for gene NOBOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NANOS3 Bryony Thompson gene: NANOS3 was added
gene: NANOS3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: NANOS3 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 MSH5 Bryony Thompson gene: MSH5 was added
gene: MSH5 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: MSH5 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 MRPS22 Bryony Thompson gene: MRPS22 was added
gene: MRPS22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: MRPS22 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 FANCM Bryony Thompson gene: FANCM was added
gene: FANCM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: FANCM was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ERAL1 Bryony Thompson gene: ERAL1 was added
gene: ERAL1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ERAL1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 EIF4ENIF1 Bryony Thompson gene: EIF4ENIF1 was added
gene: EIF4ENIF1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: EIF4ENIF1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 DACH2 Bryony Thompson gene: DACH2 was added
gene: DACH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: DACH2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 BTG4 Bryony Thompson gene: BTG4 was added
gene: BTG4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: BTG4 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.51 Bryony Thompson Panel name changed from Amenorrhoea_Premature Ovarian Failure to Primary Ovarian Insufficiency_Premature Ovarian Failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.50 Bryony Thompson Panel name changed from Amenorrhoea to Amenorrhoea_Premature Ovarian Failure
Panel types changed to Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.5611 ECEL1P2 Zornitza Stark Marked gene: ECEL1P2 as ready
Mendeliome v0.5611 ECEL1P2 Zornitza Stark Gene: ecel1p2 has been classified as Red List (Low Evidence).
Mendeliome v0.5611 ECEL1P2 Zornitza Stark Classified gene: ECEL1P2 as Red List (low evidence)
Mendeliome v0.5611 ECEL1P2 Zornitza Stark Gene: ecel1p2 has been classified as Red List (Low Evidence).
Mendeliome v0.5610 ECEL1P2 Zornitza Stark reviewed gene: ECEL1P2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.5610 CCDC32 Zornitza Stark Phenotypes for gene: CCDC32 were changed from craniofacial, cardiac and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Mendeliome v0.5609 CCDC32 Zornitza Stark edited their review of gene: CCDC32: Changed rating: GREEN; Changed phenotypes: Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123, Craniofacial, cardiac, laterality and neurodevelopmental anomalies; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.219 CCDC32 Zornitza Stark Phenotypes for gene: CCDC32 were changed from Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Ciliopathies v0.219 CCDC32 Zornitza Stark Phenotypes for gene: CCDC32 were changed from Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Ciliopathies v0.218 CCDC32 Zornitza Stark edited their review of gene: CCDC32: Changed phenotypes: Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123, Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Mendeliome v0.5609 CDC40 Zornitza Stark Marked gene: CDC40 as ready
Mendeliome v0.5609 CDC40 Zornitza Stark Gene: cdc40 has been classified as Red List (Low Evidence).
Mendeliome v0.5609 CDC40 Zornitza Stark gene: CDC40 was added
gene: CDC40 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: CDC40 was set to RED
Added comment: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association. Gene referred to as PRP17 in paper.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark Marked gene: CDC40 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark Gene: cdc40 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.
Sources: Literature; to: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.

Gene referred to as PRP17 in paper.

Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Interaction with PPIL1 and mouse model supports gene-disease association.
Sources: Literature; to: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature; to: Single family reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Interaction with PPIL1 and mouse model supports gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark edited their review of gene: CDC40: Changed rating: RED
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark gene: CDC40 was added
gene: CDC40 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: CDC40 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Genetic Epilepsy v0.957 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Genetic Epilepsy v0.957 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.957 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Genetic Epilepsy v0.957 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.956 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3274 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Intellectual disability syndromic and non-syndromic v0.3274 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3274 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3274 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3273 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Microcephaly v0.512 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Microcephaly v0.512 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Microcephaly v0.512 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Microcephaly v0.512 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Microcephaly v0.511 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Mendeliome v0.5608 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Mendeliome v0.5608 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Mendeliome v0.5608 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Mendeliome v0.5608 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Mendeliome v0.5607 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.159 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Mendeliome v0.5606 FRA12A Bryony Thompson Classified STR: FRA12A as Amber List (moderate evidence)
Mendeliome v0.5606 FRA12A Bryony Thompson Str: fra12a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5605 FRA12A Bryony Thompson STR: FRA12A was added
STR: FRA12A was added to Mendeliome. Sources: Other
5'UTR tags were added to STR: FRA12A.
Mode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FRA12A were set to 17236128
Phenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630
Review for STR: FRA12A was set to AMBER
Added comment: NM_173602.2:c.-137CGG[X]
All individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.
70 controls used to determine the "normal" repeat range.
Sources: Other
Mendeliome v0.5604 DIP2B Bryony Thompson Classified gene: DIP2B as No list
Mendeliome v0.5604 DIP2B Bryony Thompson Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR
Mendeliome v0.5604 DIP2B Bryony Thompson Gene: dip2b has been removed from the panel.
Mendeliome v0.5603 DIP2B Bryony Thompson Classified gene: DIP2B as No list
Mendeliome v0.5603 DIP2B Bryony Thompson Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR
Mendeliome v0.5603 DIP2B Bryony Thompson Gene: dip2b has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.3272 DIP2B Bryony Thompson Classified gene: DIP2B as No list
Intellectual disability syndromic and non-syndromic v0.3272 DIP2B Bryony Thompson Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR
Intellectual disability syndromic and non-syndromic v0.3272 DIP2B Bryony Thompson Gene: dip2b has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.3271 FRA12A Bryony Thompson Marked STR: FRA12A as ready
Intellectual disability syndromic and non-syndromic v0.3271 FRA12A Bryony Thompson Str: fra12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3271 FRA12A Bryony Thompson Classified STR: FRA12A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3271 FRA12A Bryony Thompson Str: fra12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3270 FRA12A Bryony Thompson STR: FRA12A was added
STR: FRA12A was added to Intellectual disability syndromic and non-syndromic. Sources: Other
5'UTR tags were added to STR: FRA12A.
Mode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FRA12A were set to 17236128
Phenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630
Review for STR: FRA12A was set to AMBER
Added comment: NM_173602.2:c.-137CGG[X]
All individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.
70 controls used to determine the "normal" repeat range.
Sources: Other
Deafness_IsolatedAndComplex v1.34 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630
Deafness_IsolatedAndComplex v1.33 PTPRQ Zornitza Stark commented on gene: PTPRQ: Further heterozygous variants reported in PMID 33229591.
Deafness_IsolatedAndComplex v1.33 PTPRQ Zornitza Stark edited their review of gene: PTPRQ: Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591
Mendeliome v0.5602 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630
Mendeliome v0.5601 PTPRQ Zornitza Stark changed review comment from: Additional heterozygous variants reported in PMID: 33229591; to: Additional heterozygous variants reported in PMID: 33229591, Green for both MOIs.
Mendeliome v0.5601 PTPRQ Zornitza Stark edited their review of gene: PTPRQ: Added comment: Additional heterozygous variants reported in PMID: 33229591; Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Marked STR: CANVAS_ACAGG as ready
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.93 CANVAS_ACAGG Bryony Thompson STR: CANVAS_ACAGG was added
STR: CANVAS_ACAGG was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS_ACAGG were set to 33103729
Phenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation
Review for STR: CANVAS_ACAGG was set to AMBER
Added comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson changed review comment from: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature; to: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Marked STR: CANVAS_ACAGG as ready
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5600 CANVAS_ACAGG Bryony Thompson STR: CANVAS_ACAGG was added
STR: CANVAS_ACAGG was added to Mendeliome. Sources: Literature
Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS_ACAGG were set to 33103729
Phenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation
Review for STR: CANVAS_ACAGG was set to AMBER
Added comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Mendeliome v0.5599 CANVAS Bryony Thompson Marked STR: CANVAS as ready
Mendeliome v0.5599 CANVAS Bryony Thompson Str: canvas has been classified as Green List (High Evidence).
Mendeliome v0.5599 CANVAS Bryony Thompson Classified STR: CANVAS as Green List (high evidence)
Mendeliome v0.5599 CANVAS Bryony Thompson Str: canvas has been classified as Green List (High Evidence).
Mendeliome v0.5598 CANVAS Bryony Thompson STR: CANVAS was added
STR: CANVAS was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS were set to 30926972; 32851396
Phenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Review for STR: CANVAS was set to GREEN
STR: CANVAS was marked as clinically relevant
Added comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease. Maori population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp. (AAAGG)n repeat alone is not pathogenic.
Sources: Expert list
Mendeliome v0.5597 RFC1 Bryony Thompson Classified gene: RFC1 as No list
Mendeliome v0.5597 RFC1 Bryony Thompson Gene: rfc1 has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.3269 FRAXE Bryony Thompson Classified STR: FRAXE as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3269 FRAXE Bryony Thompson Str: fraxe has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3268 FRAXE Bryony Thompson STR: FRAXE was added
STR: FRAXE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for STR: FRAXE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: FRAXE were set to 8334699; 8673085; 11388762
Phenotypes for STR: FRAXE were set to Fragile X syndrome, FRAXE type (OMIM 309548)
Review for STR: FRAXE was set to GREEN
STR: FRAXE was marked as clinically relevant
STR: FRAXE was marked as current diagnostic
Added comment: NM_001169122.1(AFF2):c.-460_-458GCC(6_25)
Loss of function through methylation silencing is the mechanism of disease
Normal - 5-44 repeats
Inconclusive - 45-54 repeats
Premutation - 55-200 repeats
Abnormal - >200 or >230 repeats
Sources: Expert list
Mendeliome v0.5596 GDF11 Zornitza Stark Phenotypes for gene: GDF11 were changed from Cleft lip and palate to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122
Mendeliome v0.5595 GDF11 Zornitza Stark edited their review of gene: GDF11: Changed phenotypes: Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122
Mendeliome v0.5595 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Mendeliome v0.5595 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Mendeliome v0.5595 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3 (MIM# 610329), AR
Mendeliome v0.5594 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Mendeliome v0.5593 RNASEH2C Zornitza Stark Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5592 CFAP52 Zornitza Stark Marked gene: CFAP52 as ready
Mendeliome v0.5592 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Mendeliome v0.5592 CFAP52 Zornitza Stark Classified gene: CFAP52 as Green List (high evidence)
Mendeliome v0.5592 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Mendeliome v0.5591 CFAP45 Zornitza Stark Marked gene: CFAP45 as ready
Mendeliome v0.5591 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Mendeliome v0.5591 CFAP45 Zornitza Stark Classified gene: CFAP45 as Green List (high evidence)
Mendeliome v0.5591 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Mendeliome v0.5590 RNASEH2C Chern Lim reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183309, 23322642; Phenotypes: Aicardi-Goutieres syndrome 3 (MIM# 610329), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.955 CEP85L Zornitza Stark Marked gene: CEP85L as ready
Genetic Epilepsy v0.955 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.955 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Genetic Epilepsy v0.955 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.954 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Genetic Epilepsy v0.954 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.953 CEP85L Zornitza Stark gene: CEP85L was added
gene: CEP85L was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant
Review for gene: CEP85L was set to GREEN
Added comment: PMID: 32097630 (2020) - 13 individuals from 9 unrelated families with lissencephaly and heterozygous variants in the CEP85L gene. Seizures are part of the phenotype, present in all cases (except 1 unknown) which were intractable in most. Age of seizure onset was variable, ranging from 5 months to 14 years. Mouse model supports a role of CEP85L in neuronal migration.
Sources: Expert Review
Microcephaly v0.510 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Microcephaly v0.510 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Microcephaly v0.510 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Microcephaly v0.510 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Microcephaly v0.509 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Review for gene: MORC2 was set to GREEN
Added comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL.
Sources: Expert list
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.32 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Review for gene: MORC2 was set to GREEN
Added comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL.
Sources: Expert list
Mendeliome v0.5590 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Mendeliome v0.5589 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy, Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Proteinuria v0.150 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Proteinuria v0.149 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy, Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Mendeliome v0.5589 RAP1A Zornitza Stark Marked gene: RAP1A as ready
Mendeliome v0.5589 RAP1A Zornitza Stark Gene: rap1a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5589 RAP1A Zornitza Stark Phenotypes for gene: RAP1A were changed from to Kabuki syndrome
Mendeliome v0.5588 RAP1A Zornitza Stark Publications for gene: RAP1A were set to
Mendeliome v0.5587 RAP1A Zornitza Stark Mode of inheritance for gene: RAP1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5586 RAP1A Zornitza Stark Classified gene: RAP1A as Amber List (moderate evidence)
Mendeliome v0.5586 RAP1A Zornitza Stark Gene: rap1a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5585 RAP1A Zornitza Stark reviewed gene: RAP1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kabuki syndrome v0.10 RAP1B Zornitza Stark Classified gene: RAP1B as Amber List (moderate evidence)
Kabuki syndrome v0.10 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Kabuki syndrome v0.9 RAP1B Zornitza Stark changed review comment from: Single individual reported with de novo variant, but facial gestalt described as not typical, and note more recent publication of de novo missense in association with syndromic ID but not Kabuki-like.; to: Single individual reported with de novo variant, but facial gestalt described as not typical, and note more recent publication of de novo missense in association with syndromic ID but not Kabuki-like. Functional data supports gene-disease association but degree of overlap with KS questionable.
Kabuki syndrome v0.9 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed rating: AMBER
Kabuki syndrome v0.9 RAP1A Zornitza Stark Marked gene: RAP1A as ready
Kabuki syndrome v0.9 RAP1A Zornitza Stark Gene: rap1a has been classified as Amber List (Moderate Evidence).
Kabuki syndrome v0.9 RAP1A Zornitza Stark Phenotypes for gene: RAP1A were changed from to Kabuki syndrome
Kabuki syndrome v0.8 RAP1A Zornitza Stark Publications for gene: RAP1A were set to
Kabuki syndrome v0.7 RAP1A Zornitza Stark Mode of inheritance for gene: RAP1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kabuki syndrome v0.6 RAP1A Zornitza Stark Classified gene: RAP1A as Amber List (moderate evidence)
Kabuki syndrome v0.6 RAP1A Zornitza Stark Gene: rap1a has been classified as Amber List (Moderate Evidence).
Kabuki syndrome v0.5 RAP1A Zornitza Stark reviewed gene: RAP1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3267 RAP1B Zornitza Stark Publications for gene: RAP1B were set to PMID: 32627184
Intellectual disability syndromic and non-syndromic v0.3266 RAP1B Zornitza Stark Classified gene: RAP1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3266 RAP1B Zornitza Stark Gene: rap1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark edited their review of gene: RAP1B: Added comment: Another individual with de novo missense variant from a Kabuki-like cohort but note facial gestalt was not typical, had DD.; Changed rating: GREEN; Changed publications: 32627184, 26280580
Mendeliome v0.5585 RAP1B Zornitza Stark Publications for gene: RAP1B were set to 32627184
Mendeliome v0.5584 RAP1B Zornitza Stark Classified gene: RAP1B as Green List (high evidence)
Mendeliome v0.5584 RAP1B Zornitza Stark Gene: rap1b has been classified as Green List (High Evidence).
Mendeliome v0.5583 RAP1B Zornitza Stark edited their review of gene: RAP1B: Added comment: Another individual with de novo missense reported from a cohort of Kabuki-like patients but note facial gestalt was not typical.; Changed rating: GREEN; Changed publications: 32627184, 26280580
Kabuki syndrome v0.5 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Kabuki syndrome v0.5 RAP1B Zornitza Stark Gene: rap1b has been classified as Red List (Low Evidence).
Kabuki syndrome v0.5 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from to Kabuki syndrome
Kabuki syndrome v0.4 RAP1B Zornitza Stark Publications for gene: RAP1B were set to
Kabuki syndrome v0.3 RAP1B Zornitza Stark Mode of inheritance for gene: RAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kabuki syndrome v0.2 RAP1B Zornitza Stark Classified gene: RAP1B as Red List (low evidence)
Kabuki syndrome v0.2 RAP1B Zornitza Stark Gene: rap1b has been classified as Red List (Low Evidence).
Kabuki syndrome v0.1 RAP1B Zornitza Stark reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5583 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Mendeliome v0.5583 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5583 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from to RAP1B‐associated syndrome; intellectual disability; microcephaly; thrombocytopaenia
Mendeliome v0.5582 RAP1B Zornitza Stark Publications for gene: RAP1B were set to
Mendeliome v0.5581 RAP1B Zornitza Stark Mode of inheritance for gene: RAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5580 RAP1B Zornitza Stark Classified gene: RAP1B as Amber List (moderate evidence)
Mendeliome v0.5580 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5579 RAP1B Zornitza Stark reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32627184; Phenotypes: RAP1B‐associated syndrome, intellectual disability, microcephaly, thrombocytopaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32627184; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark Classified gene: RAP1B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5579 EMC10 Zornitza Stark Marked gene: EMC10 as ready
Mendeliome v0.5579 EMC10 Zornitza Stark Gene: emc10 has been classified as Red List (Low Evidence).
Mendeliome v0.5579 EMC10 Zornitza Stark gene: EMC10 was added
gene: EMC10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to 32869858
Phenotypes for gene: EMC10 were set to Intellectual disability
Review for gene: EMC10 was set to RED
Added comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.

One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD.
WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3264 RAP1B Chirag Patel gene: RAP1B was added
gene: RAP1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to PMID: 32627184
Phenotypes for gene: RAP1B were set to RAP1B‐associated phenotype, no OMIM #
Review for gene: RAP1B was set to RED
Added comment: De novo variants in the RAP1B gene (c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg)) in two unrelated patients with thrombocytopenia, microcephaly, learning difficulties, renal malformations, structural anomalies of the brain and other features (not Kabuki like).

RAP1B is a member of the RAS superfamily of small GTPases. There is strong evidence that the p.Gly12Val and p.Gly60Arg variants in the RAP1B gene lead into a dysregulation of the downstream pathway. Both substitutions have been described previously as dominant constitutively active in RAS‐related proteins (gain of function variants).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3263 EMC10 Chirag Patel gene: EMC10 was added
gene: EMC10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to PMID: 32869858
Phenotypes for gene: EMC10 were set to Developmental delay and intellectual disability, no OMIM#
Review for gene: EMC10 was set to RED
Added comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.

One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD.
WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients.
Sources: Literature
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Marked Region: ISCA-37467-Gain as ready
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Region: isca-37467-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Classified Region: ISCA-37467-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Region: isca-37467-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.136 ISCA-37467-Gain Zornitza Stark Region: ISCA-37467-Gain was added
Region: ISCA-37467-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787
Phenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM# 186200; limb anomalies; congenital heart disease; congenital anomalies
Review for Region: ISCA-37467-Gain was set to GREEN
Added comment: The ZPA regulatory sequence (ZRS) of SHH is located within intron 5 of LMBR1.

Multiple reports of isolated and syndromic limb anomalies in association with duplications of this region.
Sources: Expert list
Mendeliome v0.5578 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Mendeliome v0.5578 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Mendeliome v0.5578 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Mendeliome v0.5578 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Mendeliome v0.5577 FBXO28 Zornitza Stark gene: FBXO28 was added
gene: FBXO28 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO28 were set to 33280099
Phenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy
Review for gene: FBXO28 was set to GREEN
Added comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature
Genetic Epilepsy v0.952 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Genetic Epilepsy v0.952 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.952 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Genetic Epilepsy v0.952 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.951 FBXO28 Zornitza Stark gene: FBXO28 was added
gene: FBXO28 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO28 were set to 33280099
Phenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy
Review for gene: FBXO28 was set to GREEN
Added comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark changed review comment from: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature; to: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3261 FBXO28 Zornitza Stark gene: FBXO28 was added
gene: FBXO28 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO28 were set to 33280099
Phenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy
Review for gene: FBXO28 was set to GREEN
Added comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.49 TNFRSF13B Sarah Righetti reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 29114388, 22983507, 22697072, 19779048, 31681265; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: Other
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Marked Region: ISCA-37442-Gain as ready
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Region: isca-37442-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Classified Region: ISCA-37442-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Region: isca-37442-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.134 ISCA-37442-Gain Zornitza Stark Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37442-Gain.
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 8842729
Phenotypes for Region: ISCA-37442-Gain were set to Diabetes mellitus, transient neonatal 1, MIM# 601410
Review for Region: ISCA-37442-Gain was set to GREEN
Added comment: Transient neonatal diabetes mellitus-1 (TNDM1; '6q diabetes') is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains PLAGL1.

Three genetic mechanisms had been shown to result in TNDM: paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI (promoter of PLAGL1). Note that over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.
Sources: Expert list
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Marked Region: ISCA-37417-Loss as ready
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Classified Region: ISCA-37417-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.132 ISCA-37417-Loss Zornitza Stark Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, MIM# 308100
Review for Region: ISCA-37417-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Mendeliome v0.5576 CFAP52 Zornitza Stark gene: CFAP52 was added
gene: CFAP52 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 25469542; 33139725
Phenotypes for gene: CFAP52 were set to Heterotaxy
Review for gene: CFAP52 was set to GREEN
Added comment: Five unrelated families and functional data.
Sources: Literature
Heterotaxy v1.6 CFAP52 Zornitza Stark Marked gene: CFAP52 as ready
Heterotaxy v1.6 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Heterotaxy v1.6 CFAP52 Zornitza Stark Classified gene: CFAP52 as Green List (high evidence)
Heterotaxy v1.6 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Heterotaxy v1.5 CFAP52 Zornitza Stark gene: CFAP52 was added
gene: CFAP52 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 25469542; 33139725
Phenotypes for gene: CFAP52 were set to Heterotaxy
Review for gene: CFAP52 was set to GREEN
Added comment: Five unrelated families and functional data.
Sources: Literature
Mendeliome v0.5575 CFAP45 Zornitza Stark gene: CFAP45 was added
gene: CFAP45 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia
Review for gene: CFAP45 was set to GREEN
Added comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: Literature
Heterotaxy v1.4 CFAP45 Zornitza Stark Marked gene: CFAP45 as ready
Heterotaxy v1.4 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.4 CFAP45 Zornitza Stark Classified gene: CFAP45 as Green List (high evidence)
Heterotaxy v1.4 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.3 CFAP45 Zornitza Stark Classified gene: CFAP45 as Green List (high evidence)
Heterotaxy v1.3 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.2 CFAP45 Zornitza Stark gene: CFAP45 was added
gene: CFAP45 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia
Review for gene: CFAP45 was set to GREEN
Added comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: Literature
Proteinuria v0.149 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.149 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.149 DAAM2 Zornitza Stark Classified gene: DAAM2 as Green List (high evidence)
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Autism v0.124 BICRA Zornitza Stark Marked gene: BICRA as ready
Autism v0.124 BICRA Zornitza Stark Gene: bicra has been classified as Green List (High Evidence).
Autism v0.124 BICRA Zornitza Stark Classified gene: BICRA as Green List (high evidence)
Autism v0.124 BICRA Zornitza Stark Gene: bicra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3260 RLIM Zornitza Stark Publications for gene: RLIM were set to 29728705; 25735484; 25644381
Intellectual disability syndromic and non-syndromic v0.3259 RLIM Zornitza Stark Mode of pathogenicity for gene: RLIM was changed from to Other
Intellectual disability syndromic and non-syndromic v0.3258 RLIM Zornitza Stark changed review comment from: 14 males from 9 families reported with duplications involving RLIM gene, suggesting dosage effect.; to: 14 males from 9 families reported with duplications involving RLIM gene and intellectual disability, suggesting dosage effect.
Intellectual disability syndromic and non-syndromic v0.3258 RLIM Zornitza Stark edited their review of gene: RLIM: Added comment: 14 males from 9 families reported with duplications involving RLIM gene, suggesting dosage effect.; Changed mode of pathogenicity: Other; Changed publications: 29728705, 25735484, 25644381, 33159883
Red cell disorders v0.4 VPS4A Zornitza Stark Marked gene: VPS4A as ready
Red cell disorders v0.4 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Red cell disorders v0.4 VPS4A Zornitza Stark Classified gene: VPS4A as Green List (high evidence)
Red cell disorders v0.4 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Red cell disorders v0.3 VPS4A Zornitza Stark gene: VPS4A was added
gene: VPS4A was added to Rare anaemia_GEL. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to syndromic congenital dyserythropoietic anaemia
Mode of pathogenicity for gene: VPS4A was set to Other
Review for gene: VPS4A was set to GREEN
Added comment: 6 of 9 reported individuals had anaemia as part of a syndromic neurodevelopmental disorder.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3258 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Intellectual disability syndromic and non-syndromic v0.3258 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3258 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3258 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3257 CLCN6 Zornitza Stark gene: CLCN6 was added
gene: CLCN6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN6 were set to 33217309
Phenotypes for gene: CLCN6 were set to Developmental delay; neurodegeneration
Review for gene: CLCN6 was set to GREEN
Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.
Sources: Literature
Regression v0.220 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Regression v0.220 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Regression v0.220 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Regression v0.220 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Regression v0.219 CLCN6 Zornitza Stark gene: CLCN6 was added
gene: CLCN6 was added to Regression. Sources: Literature
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN6 were set to 33217309
Phenotypes for gene: CLCN6 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894
Review for gene: CLCN6 was set to GREEN
Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.
Sources: Literature
Mendeliome v0.5574 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5573 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Mendeliome v0.5573 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Mendeliome v0.5572 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.; Changed rating: GREEN; Changed publications: 25794116, 21107136, 33217309; Changed phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.58 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to 25794116; 21107136; 33217309
Lysosomal Storage Disorder v0.57 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to 25794116; 21107136
Lysosomal Storage Disorder v0.57 CLCN6 Zornitza Stark Mode of pathogenicity for gene: CLCN6 was changed from to Other
Lysosomal Storage Disorder v0.56 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.55 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Lysosomal Storage Disorder v0.55 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.54 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.54 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: 25794116, 21107136, 33217309; Changed phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL
Arthrogryposis v0.246 HS2ST1 Zornitza Stark Classified gene: HS2ST1 as Amber List (moderate evidence)
Arthrogryposis v0.246 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.245 HS2ST1 Zornitza Stark gene: HS2ST1 was added
gene: HS2ST1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis
Review for gene: HS2ST1 was set to AMBER
Added comment: 4 affected individuals from three unrelated families. Three of the individuals (two families) had arthrogryposis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3256 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from to Intellectual disability; dysmorphic features; congenital anomalies
Intellectual disability syndromic and non-syndromic v0.3255 KDM4B Zornitza Stark Marked gene: KDM4B as ready
Intellectual disability syndromic and non-syndromic v0.3255 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3255 KDM4B Zornitza Stark Classified gene: KDM4B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3255 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.950 KDM4B Zornitza Stark Marked gene: KDM4B as ready
Genetic Epilepsy v0.950 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.950 KDM4B Zornitza Stark Classified gene: KDM4B as Green List (high evidence)
Genetic Epilepsy v0.950 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3254 SMG8 Zornitza Stark Publications for gene: SMG8 were set to 31130284
Intellectual disability syndromic and non-syndromic v0.3253 SMG8 Zornitza Stark Classified gene: SMG8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3253 SMG8 Zornitza Stark Gene: smg8 has been classified as Green List (High Evidence).
Mendeliome v0.5572 GDF6 Zornitza Stark Phenotypes for gene: GDF6 were changed from Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898 to Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898; CAKUT
Mendeliome v0.5571 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Mendeliome v0.5571 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.131 ISCA-37433-Loss Elena Savva Classified Region: ISCA-37433-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.131 ISCA-37433-Loss Elena Savva Region: isca-37433-loss has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.78 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.78 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.78 GDF6 Zornitza Stark Classified gene: GDF6 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.78 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.77 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF6 were set to 32737436
Phenotypes for gene: GDF6 were set to Syndromic CAKUT
Review for gene: GDF6 was set to GREEN
Added comment: Three individuals (three families) with kidney hypodysplasia and extrarenal manifestations, two of them additionally manifesting skeletal, ocular, or auricular abnormalities. Two with same variant c.746C>A p.(Ala249Glu) and the third with c.112G>C p.(Gly38Arg). "CRISPR/Cas9-derived knockout of Gdf6 attenuated migration of murine IMCD3 cells, an effect rescued by expression of wild-type but not mutant GDF6, indicating affected variant function regarding a fundamental developmental process. Knockdown of gdf6 in Xenopus laevis resulted in impaired pronephros development."
Sources: Literature
Mendeliome v0.5571 GDF6 Zornitza Stark Phenotypes for gene: GDF6 were changed from to Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898
Intellectual disability syndromic and non-syndromic v0.3252 HS2ST1 Elena Savva Mode of pathogenicity for gene: HS2ST1 was changed from None to None
Mendeliome v0.5570 GDF6 Zornitza Stark Publications for gene: GDF6 were set to 18425797; 19129173; 32737436
Intellectual disability syndromic and non-syndromic v0.3252 HS2ST1 Elena Savva Classified gene: HS2ST1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3252 HS2ST1 Elena Savva Gene: hs2st1 has been classified as Green List (High Evidence).
Mendeliome v0.5569 GDF6 Zornitza Stark Publications for gene: GDF6 were set to
Intellectual disability syndromic and non-syndromic v0.3251 HS2ST1 Elena Savva Marked gene: HS2ST1 as ready
Intellectual disability syndromic and non-syndromic v0.3251 HS2ST1 Elena Savva Added comment: Comment when marking as ready: - 4 affected from 3 unrelated families - 3 unique missense and 2 PTCs - Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities
Intellectual disability syndromic and non-syndromic v0.3251 HS2ST1 Elena Savva Gene: hs2st1 has been removed from the panel.
Mendeliome v0.5568 GDF6 Zornitza Stark Mode of inheritance for gene: GDF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5567 GDF6 Zornitza Stark reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: 18425797, 19129173; Phenotypes: Klippel-Feil syndrome 1, autosomal dominant 118100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.12 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Eye Anterior Segment Abnormalities v0.12 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.12 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 32399598
Phenotypes for gene: PEX6 were set to Perrault syndrome
Review for gene: PEX6 was set to RED
Added comment: Well established gene-disease association for peroxisomal disorders, including milder end of the spectrum (Heimler syndrome). Single case report of Perrault syndrome as presenting phenotype.
Sources: Literature
Eye Anterior Segment Abnormalities v0.11 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to 32274568
Mendeliome v0.5567 GDF6 Belinda Chong reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32737436; Phenotypes: Klippel-Feil syndrome 1, autosomal dominant 118100, Leber congenital amaurosis 17 615360, Microphthalmia with coloboma 6, digenic 613703, Microphthalmia, isolated 4 613094, Multiple synostoses syndrome 4 617898; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Marked gene: NDRG1 as ready
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Gene: ndrg1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Phenotypes for gene: NDRG1 were changed from to Charcot-Marie-Tooth disease, type 4D MIM#601455; Syndromic auditory neuropathy spectrum disorder; Hereditary motor and sensory neuropathy Lom
Deafness_IsolatedAndComplex v1.30 NDRG1 Bryony Thompson Publications for gene: NDRG1 were set to
Deafness_IsolatedAndComplex v1.29 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Deafness_IsolatedAndComplex v1.29 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.29 NDRG1 Bryony Thompson Classified gene: NDRG1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.29 NDRG1 Bryony Thompson Gene: ndrg1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.28 SLC52A3 Bryony Thompson Publications for gene: SLC52A3 were set to
Deafness_IsolatedAndComplex v1.27 TRPV4 Bryony Thompson Marked gene: TRPV4 as ready
Deafness_IsolatedAndComplex v1.27 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.26 TRPV4 Bryony Thompson Publications for gene: TRPV4 were set to
Deafness_IsolatedAndComplex v1.25 TRPV4 Bryony Thompson Phenotypes for gene: TRPV4 were changed from to Auditory neuropathy spectrum disorder; Peripheral neuropathy; Hearing loss
Deafness_IsolatedAndComplex v1.24 TRPV4 Bryony Thompson Classified gene: TRPV4 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.24 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.23 TRPV4 Bryony Thompson Classified gene: TRPV4 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.23 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.21 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.20 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530
Mendeliome v0.5567 PEX6 Dean Phelan reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32399598; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Marked gene: VPS4A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Gene: vps4a has been removed from the panel.
Deafness_IsolatedAndComplex v1.19 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.949 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Genetic Epilepsy v0.949 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Genetic Epilepsy v0.948 VPS4A Elena Savva Marked gene: VPS4A as ready
Genetic Epilepsy v0.948 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Genetic Epilepsy v0.948 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.948 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Genetic Epilepsy v0.948 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.157 VPS4A Elena Savva Deleted their review
Dystonia and Chorea v0.157 VPS4A Elena Savva Marked gene: VPS4A as ready
Dystonia and Chorea v0.157 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Dystonia and Chorea v0.157 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.157 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Dystonia and Chorea v0.157 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Dystonia and Chorea v0.156 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Dystonia and Chorea v0.156 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Microcephaly v0.508 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Microcephaly v0.508 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Microcephaly v0.508 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Microcephaly v0.508 VPS4A Elena Savva Marked gene: VPS4A as ready
Microcephaly v0.508 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Microcephaly v0.508 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Microcephaly v0.508 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Microcephaly v0.508 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Marked gene: VPS4A as ready
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Mendeliome v0.5567 VPS4A Kristin Rigbye changed review comment from: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.
"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature; to: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Genetic Epilepsy v0.947 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Dystonia and Chorea v0.155 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Microcephaly v0.507 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3250 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Mendeliome v0.5567 VPS4A Elena Savva Deleted their review
Mendeliome v0.5567 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents).
Demonstrated defective CD71 trafficking in all 3 patients.

Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5567 VPS4A Elena Savva Marked gene: VPS4A as ready
Mendeliome v0.5567 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Mendeliome v0.5567 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Mendeliome v0.5567 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Mendeliome v0.5567 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from Other to Other
Mendeliome v0.5567 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Mendeliome v0.5567 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5566 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Mendeliome v0.5566 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Proteinuria v0.148 DAAM2 Ain Roesley gene: DAAM2 was added
gene: DAAM2 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAAM2 were set to 33232676
Phenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome (SRNS)
Penetrance for gene: DAAM2 were set to unknown
Review for gene: DAAM2 was set to GREEN
Added comment: - steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22))
- 4 unrelated families, 3 of which were consanguineous
- 4 unique missense and 1 stop
- in vitro studies done for the missense variants
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5565 DAAM2 Zornitza Stark reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33232676; Phenotypes: Steroid-resistant nephrotic syndrome (SRNS); Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5565 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Mendeliome v0.5565 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5565 DAAM2 Zornitza Stark Publications for gene: DAAM2 were set to
Autism v0.123 BICRA Paul De Fazio gene: BICRA was added
gene: BICRA was added to Autism. Sources: Literature
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Review for gene: BICRA was set to GREEN
gene: BICRA was marked as current diagnostic
Added comment: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5564 DAAM2 Zornitza Stark Classified gene: DAAM2 as Green List (high evidence)
Mendeliome v0.5564 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3249 HS2ST1 Ain Roesley gene: HS2ST1 was added
gene: HS2ST1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Penetrance for gene: HS2ST1 were set to unknown
Added comment: - 4 affected from 3 unrelated families
- 3 unique missense and 2 PTCs
- Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3248 BICRA Elena Savva Marked gene: BICRA as ready
Intellectual disability syndromic and non-syndromic v0.3248 BICRA Elena Savva Added comment: Comment when marking as ready: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Intellectual disability syndromic and non-syndromic v0.3248 BICRA Elena Savva Gene: bicra has been removed from the panel.
Mendeliome v0.5563 HS2ST1 Zornitza Stark Marked gene: HS2ST1 as ready
Mendeliome v0.5563 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Green List (High Evidence).
Mendeliome v0.5563 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from to Intellectual disability; dysmorphic features; congenital anomalies
Intellectual disability syndromic and non-syndromic v0.3248 KDM4B Kristin Rigbye gene: KDM4B was added
gene: KDM4B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM4B were set to PMID: 33232677
Phenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects
Review for gene: KDM4B was set to GREEN
Added comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B.

All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.

In a knockout mouse the total brain volume was significantly reduced with decreased
size of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly.
Sources: Literature
Mendeliome v0.5563 BICRA Elena Savva Marked gene: BICRA as ready
Mendeliome v0.5563 BICRA Elena Savva Added comment: Comment when marking as ready: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Mendeliome v0.5563 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5563 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Mendeliome v0.5563 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Genetic Epilepsy v0.947 KDM4B Kristin Rigbye gene: KDM4B was added
gene: KDM4B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM4B were set to PMID: 33232677
Phenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects
Review for gene: KDM4B was set to GREEN
Added comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B.

All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.

In a knockout mouse the total brain volume was significantly reduced with decreased
size of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly.
Sources: Literature
Mendeliome v0.5562 HS2ST1 Zornitza Stark Classified gene: HS2ST1 as Green List (high evidence)
Mendeliome v0.5562 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.10 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Mendeliome v0.5561 KDM4B Zornitza Stark Marked gene: KDM4B as ready
Mendeliome v0.5561 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Mendeliome v0.5561 KDM4B Zornitza Stark Classified gene: KDM4B as Green List (high evidence)
Mendeliome v0.5561 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.9 CPAMD8 Zornitza Stark Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3248 SMG8 Kristin Rigbye reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33242396; Phenotypes: Neuorodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5560 SMG8 Zornitza Stark Classified gene: SMG8 as Green List (high evidence)
Mendeliome v0.5560 SMG8 Zornitza Stark Gene: smg8 has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.130 ISCA-37433-Loss Elena Savva Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Review for Region: ISCA-37433-Loss was set to GREEN
Added comment: Established CNV
Sources: Expert list
Mendeliome v0.5559 UNC45B Zornitza Stark Marked gene: UNC45B as ready
Mendeliome v0.5559 UNC45B Zornitza Stark Gene: unc45b has been classified as Green List (High Evidence).
Mendeliome v0.5559 UNC45B Zornitza Stark Classified gene: UNC45B as Green List (high evidence)
Mendeliome v0.5559 UNC45B Zornitza Stark Gene: unc45b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3248 BICRA Paul De Fazio gene: BICRA was added
gene: BICRA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Review for gene: BICRA was set to GREEN
gene: BICRA was marked as current diagnostic
Added comment: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Sources: Literature
Mendeliome v0.5558 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to PMID: 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.
"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Mendeliome v0.5558 AGO2 Zornitza Stark Marked gene: AGO2 as ready
Mendeliome v0.5558 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Mendeliome v0.5558 AGO2 Zornitza Stark Classified gene: AGO2 as Green List (high evidence)
Mendeliome v0.5558 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3248 AGO2 Zornitza Stark Classified gene: AGO2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3248 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Mendeliome v0.5557 AGO2 Zornitza Stark gene: AGO2 was added
gene: AGO2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AGO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO2 were set to 33199684
Phenotypes for gene: AGO2 were set to Intellectual disability
Review for gene: AGO2 was set to GREEN
Added comment: 21 individuals reported, five variants (p.L192P, p.G201V, p.T357M, p.M364T, p.C751Y) were recurrent. Variable ID.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3247 AGO2 Zornitza Stark Classified gene: AGO2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3247 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3246 AGO2 Zornitza Stark Marked gene: AGO2 as ready
Intellectual disability syndromic and non-syndromic v0.3246 AGO2 Zornitza Stark Gene: ago2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3246 AGO2 Zornitza Stark gene: AGO2 was added
gene: AGO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: AGO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO2 were set to 33199684
Phenotypes for gene: AGO2 were set to Intellectual disability
Review for gene: AGO2 was set to GREEN
Added comment: 21 individuals reported, five variants (p.L192P, p.G201V, p.T357M, p.M364T, p.C751Y) were recurrent. Variable ID.
Sources: Literature
Mendeliome v0.5556 DAAM2 Ain Roesley gene: DAAM2 was added
gene: DAAM2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome (SRNS)
Penetrance for gene: DAAM2 were set to unknown
Review for gene: DAAM2 was set to GREEN
Added comment: - steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22))
- 4 unrelated families, 3 of which were consanguineous
- 4 unique missense and 1 stop
- in vitro studies done for the missense variants
Sources: Literature
Mendeliome v0.5556 RRP7A Zornitza Stark Marked gene: RRP7A as ready
Mendeliome v0.5556 RRP7A Zornitza Stark Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5556 RRP7A Zornitza Stark Classified gene: RRP7A as Amber List (moderate evidence)
Mendeliome v0.5556 RRP7A Zornitza Stark Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5555 RRP7A Zornitza Stark gene: RRP7A was added
gene: RRP7A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRP7A were set to 33199730
Phenotypes for gene: RRP7A were set to Microcephaly
Review for gene: RRP7A was set to AMBER
Added comment: 10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish.
Sources: Literature
Microcephaly v0.507 RRP7A Zornitza Stark Marked gene: RRP7A as ready
Microcephaly v0.507 RRP7A Zornitza Stark Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.507 RRP7A Zornitza Stark Classified gene: RRP7A as Amber List (moderate evidence)
Microcephaly v0.507 RRP7A Zornitza Stark Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5554 BICRA Paul De Fazio gene: BICRA was added
gene: BICRA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Review for gene: BICRA was set to GREEN
gene: BICRA was marked as current diagnostic
Added comment: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Sources: Literature
Microcephaly v0.506 RRP7A Zornitza Stark gene: RRP7A was added
gene: RRP7A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRP7A were set to 33199730
Phenotypes for gene: RRP7A were set to Microcephaly
Review for gene: RRP7A was set to AMBER
Added comment: 10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish.
Sources: Literature
Cerebral Palsy v0.56 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Cerebral Palsy v0.56 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.56 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Cerebral Palsy v0.56 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.55 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Mendeliome v0.5554 HS2ST1 Ain Roesley gene: HS2ST1 was added
gene: HS2ST1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Penetrance for gene: HS2ST1 were set to unknown
Review for gene: HS2ST1 was set to GREEN
Added comment: - 4 affected from 3 unrelated families
- 3 unique missense and 2 PTCs
- Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities
Sources: Literature
Mendeliome v0.5554 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Mendeliome v0.5554 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Microcephaly v0.505 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Microcephaly v0.505 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Microcephaly v0.505 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Microcephaly v0.505 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Mendeliome v0.5554 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Mendeliome v0.5554 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Microcephaly v0.504 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Mendeliome v0.5553 KDM4B Kristin Rigbye gene: KDM4B was added
gene: KDM4B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM4B were set to PMID: 33232677
Phenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects
Review for gene: KDM4B was set to GREEN
Added comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B.

All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.

In a knockout mouse the total brain volume was significantly reduced with decreased
size of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly.
Sources: Literature
Mendeliome v0.5553 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.157 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.157 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.156 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Eye Anterior Segment Abnormalities v0.8 CPAMD8 Dean Phelan reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32274568; Phenotypes: Anterior segment dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5552 UNC45B Paul De Fazio gene: UNC45B was added
gene: UNC45B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45B were set to 33217308
Phenotypes for gene: UNC45B were set to Progressive Myopathy with Eccentric Cores
Review for gene: UNC45B was set to GREEN
gene: UNC45B was marked as current diagnostic
Added comment: 10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity.
Sources: Literature
Mendeliome v0.5552 SMG8 Kristin Rigbye reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33242396; Phenotypes: Neuorodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5552 RFC1 Teresa Zhao reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33103729; Phenotypes: Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Marked Region: ISCA-37478-Gain as ready
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Region: isca-37478-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Classified Region: ISCA-37478-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Region: isca-37478-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.128 ISCA-37478-Gain Zornitza Stark Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Review for Region: ISCA-37478-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.127 Zornitza Stark removed region:ISCA-37478-Gain from the panel
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Marked Region: ISCA-37434-Loss as ready
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Region: isca-37434-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Phenotypes for Region: ISCA-37434-Loss were changed from Chromosome 1p36 deletion syndrome MIM#607872 to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Common deletion and duplication syndromes v0.125 ISCA-37434-Loss Zornitza Stark Classified Region: ISCA-37434-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.125 ISCA-37434-Loss Zornitza Stark Region: isca-37434-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Marked Region: ISCA-37433-Gain as ready
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Region: isca-37433-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Classified Region: ISCA-37433-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Region: isca-37433-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Marked Region: ISCA-37432-Loss as ready
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Phenotypes for Region: ISCA-37432-Loss were changed from Chromosome 17q12 deletion syndrome MIM#614527 to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Common deletion and duplication syndromes v0.122 ISCA-37432-Loss Zornitza Stark Classified Region: ISCA-37432-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.122 ISCA-37432-Loss Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Marked Region: ISCA-37432-Gain as ready
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Region: isca-37432-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Phenotypes for Region: ISCA-37432-Gain were changed from Chromosome 17q12 duplication syndrome 614526 to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Common deletion and duplication syndromes v0.120 ISCA-37432-Gain Zornitza Stark Classified Region: ISCA-37432-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.120 ISCA-37432-Gain Zornitza Stark Region: isca-37432-gain has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.5 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Incidentalome_PREGEN_DRAFT v0.5 ACTC1 Zornitza Stark Gene: actc1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.5 ACTC1 Zornitza Stark Classified gene: ACTC1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.5 ACTC1 Zornitza Stark Gene: actc1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.4 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Incidentalome_PREGEN_DRAFT v0.4 ABL1 Zornitza Stark Gene: abl1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.4 ABL1 Zornitza Stark Classified gene: ABL1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.4 ABL1 Zornitza Stark Gene: abl1 has been classified as Red List (Low Evidence).
Common deletion and duplication syndromes v0.119 ISCA-37434-Loss Elena Savva Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872
Review for Region: ISCA-37434-Loss was set to GREEN
Added comment: Established CNV

The majority of deletions occur on the maternal chromosome.

Features include: Microbrachycephaly (65%), epicanthus (50%), large, late-closing anterior fontanel (77%), and posteriorly rotated, low-set, abnormal ears (40%), skeletal anomalies (41%), abnormal genitalia (25%), renal abnormalities (22%), hypotonia (95%), seizures (44%), sensorineural deafness (28%)
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37433-Gain Elena Savva Region: ISCA-37433-Gain was added
Region: ISCA-37433-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37433-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363
Review for Region: ISCA-37433-Gain was set to GREEN
Added comment: Established CNV

Extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.
Patients have been reported as both de novo and having inherited the dup from a healthy parent
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37432-Loss Elena Savva Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527
Review for Region: ISCA-37432-Loss was set to GREEN
Added comment: Established CNV

Includes HNF1B resulting in renal cysts and diabetes syndrome - cognitive impairment impairment is rare
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37432-Gain Elena Savva Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526
Review for Region: ISCA-37432-Gain was set to GREEN
Added comment: Established CNV

Cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain.

OMIM notes healthy carriers with minor behavioural issues have been reported
Sources: Expert list
Polycystic liver disease v0.27 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Polycystic liver disease v0.27 DNAJB11 Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease (618061); Ivermark II syndrome
Polycystic liver disease v0.26 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351
Polycystic liver disease v0.25 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 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
Polycystic liver disease v0.24 DNAJB11 Zornitza Stark Deleted their comment
Polycystic liver disease v0.24 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.

Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease (618061), Ivermark II syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5552 DNAJB11 Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Ivermark II syndrome.
Mendeliome v0.5551 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351; 29777155
Mendeliome v0.5550 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 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 v0.5549 DNAJB11 Zornitza Stark changed review comment from: Seven unrelated. families described with phenotypes overlapping ADTKD and ADPKD, five different variants, one of these, p.Arg206* recurrent in three families.; to: Seven unrelated. families described with phenotypes overlapping ADTKD and ADPKD, five different mono-allelic variants, one of these, p.Arg206* recurrent in three families.
Mendeliome v0.5549 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Renal Macrocystic Disease v0.40 DNAJB11 Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Ivermark II syndrome.
Renal Macrocystic Disease v0.39 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351; 29777155
Renal Macrocystic Disease v0.38 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 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
Renal Macrocystic Disease v0.37 DNAJB11 Zornitza Stark changed review comment from: Single family reported with severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; to: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.
Renal Macrocystic Disease v0.37 DNAJB11 Zornitza Stark changed review comment from: Seven families described with phenotypes overlapping ADTKD and ADPKD.
Sources: Expert list; to: Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene.
Sources: Expert list
Renal Macrocystic Disease v0.37 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.5549 MYLPF Zornitza Stark Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Distal arthrogryposis type 1C (DA1C), MIM#619110
Mendeliome v0.5548 MYLPF Zornitza Stark edited their review of gene: MYLPF: Changed rating: AMBER; Changed phenotypes: Distal arthrogryposis type 1C (DA1C), MIM#619110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.244 MYLPF Zornitza Stark Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Distal arthrogryposis type 1C (DA1C), MIM#619110
Arthrogryposis v0.243 MYLPF Zornitza Stark edited their review of gene: MYLPF: Changed rating: AMBER; Changed phenotypes: Distal arthrogryposis type 1C (DA1C), MIM#619110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.74 RPGRIP1L Zornitza Stark Classified gene: RPGRIP1L as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v0.74 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.73 RPGRIP1L Zornitza Stark changed review comment from: Coloboma is part of the phenotype.
Sources: Expert list; to: Coloboma is part of the phenotype, however, only a single individual with the COACH phenotype has been reported to date. Well established ciliopathy gene.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.73 RPGRIP1L Zornitza Stark edited their review of gene: RPGRIP1L: Changed rating: AMBER; Changed phenotypes: COACH syndrome 3, MIM# 619113
Ciliopathies v0.218 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284 to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Ciliopathies v0.217 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.73 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from COACH syndrome, MIM#216360 to COACH syndrome 2, MIM# 619111
Anophthalmia_Microphthalmia_Coloboma v0.72 CC2D2A Zornitza Stark edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome 2, MIM# 619111
Mackenzie's Mission_Reproductive Carrier Screening v0.49 YIF1B Edwin Kirk reviewed gene: YIF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Marked gene: HHAT as ready
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.154 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Microcephaly v0.503 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Microcephaly v0.503 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.49 TMEM94 Edwin Kirk reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Microcephaly v0.502 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Mendeliome v0.5548 HHAT Zornitza Stark Marked gene: HHAT as ready
Mendeliome v0.5548 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5548 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Mendeliome v0.5548 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5547 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Skeletal dysplasia v0.68 HHAT Zornitza Stark Marked gene: HHAT as ready
Skeletal dysplasia v0.68 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.68 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Skeletal dysplasia v0.68 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.67 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.49 PUS7 Edwin Kirk reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 PTPN23 Edwin Kirk reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.153 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Cerebellar and Pontocerebellar Hypoplasia v0.152 KAT5 Zornitza Stark Deleted their comment
Cerebellar and Pontocerebellar Hypoplasia v0.152 KAT5 Zornitza Stark edited their review of gene: KAT5: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103, Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face
Mackenzie's Mission_Reproductive Carrier Screening v0.49 FITM2 Edwin Kirk reviewed gene: FITM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3245 KAT5 Zornitza Stark Deleted their comment
Mendeliome v0.5546 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Mendeliome v0.5545 KAT5 Zornitza Stark Deleted their comment
Mendeliome v0.5545 KAT5 Zornitza Stark edited their review of gene: KAT5: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.947 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Genetic Epilepsy v0.946 KAT5 Zornitza Stark reviewed gene: KAT5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3245 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Mackenzie's Mission_Reproductive Carrier Screening v0.49 ADPRHL2 Edwin Kirk changed review comment from: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.; to: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.

Note - I don't think I selected a rating when I entered the above, not certain if this matters.
Intellectual disability syndromic and non-syndromic v0.3244 KAT5 Zornitza Stark edited their review of gene: KAT5: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mackenzie's Mission_Reproductive Carrier Screening v0.49 DYNC1I2 Edwin Kirk reviewed gene: DYNC1I2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 ADPRHL2 Edwin Kirk commented on gene: ADPRHL2
Genetic Epilepsy v0.946 H3F3B Zornitza Stark Marked gene: H3F3B as ready
Genetic Epilepsy v0.946 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.946 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Genetic Epilepsy v0.946 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.945 H3F3B Zornitza Stark gene: H3F3B was added
gene: H3F3B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: H3F3B were set to 33268356
Phenotypes for gene: H3F3B were set to Intellectual disability; regression; seizures
Review for gene: H3F3B was set to GREEN
Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3244 H3F3B Zornitza Stark Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Intellectual disability syndromic and non-syndromic v0.3243 H3F3B Zornitza Stark Publications for gene: H3F3B were set to
Intellectual disability syndromic and non-syndromic v0.3242 H3F3B Zornitza Stark Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3241 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3241 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3240 H3F3B Zornitza Stark edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.218 H3F3B Zornitza Stark Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Regression v0.217 H3F3B Zornitza Stark Publications for gene: H3F3B were set to
Regression v0.216 H3F3B Zornitza Stark Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.215 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Regression v0.215 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Regression v0.214 H3F3B Zornitza Stark edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5545 H3F3B Zornitza Stark Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Mendeliome v0.5544 H3F3B Zornitza Stark Publications for gene: H3F3B were set to
Mendeliome v0.5543 H3F3B Zornitza Stark Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5542 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Mendeliome v0.5542 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Mendeliome v0.5541 H3F3B Zornitza Stark edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.944 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Genetic Epilepsy v0.944 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.944 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Genetic Epilepsy v0.944 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.943 H3F3A Zornitza Stark gene: H3F3A was added
gene: H3F3A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: H3F3A were set to 33268356
Phenotypes for gene: H3F3A were set to Intellectual disability; regression; seizures
Review for gene: H3F3A was set to GREEN
Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3240 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Intellectual disability syndromic and non-syndromic v0.3239 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Intellectual disability syndromic and non-syndromic v0.3238 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3237 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3237 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3236 H3F3A Zornitza Stark edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.214 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Regression v0.213 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Regression v0.212 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.211 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Regression v0.211 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Regression v0.210 H3F3A Zornitza Stark edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5541 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Mendeliome v0.5540 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Mendeliome v0.5539 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5538 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Mendeliome v0.5538 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Mendeliome v0.5537 H3F3A Zornitza Stark edited their review of gene: H3F3A: Changed phenotypes: Intellectual disability, regression, seizures
Mendeliome v0.5537 H3F3A Zornitza Stark edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Marked Region: ISCA-37431-Loss as ready
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Region: isca-37431-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Classified Region: ISCA-37431-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Region: isca-37431-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.118 ISCA-37431-Loss Zornitza Stark Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Review for Region: ISCA-37431-Loss was set to GREEN
Added comment: Approximately 5 to 20% of all individuals with NF1 have a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions. The 'NF1 microdeletion syndrome' is often characterised by a more severe phenotype than that observed in the majority of NF1 patients. In particular, there is often variable facial dysmorphism, intellectual disability, an excessive number of early-onset neurofibromas, and an increased risk for malignant peripheral nerve sheath tumours.
Sources: Expert list
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Marked Region: ISCA-37431-Gain as ready
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Region: isca-37431-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Classified Region: ISCA-37431-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Region: isca-37431-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.116 ISCA-37431-Gain Zornitza Stark Region: ISCA-37431-Gain was added
Region: ISCA-37431-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Gain were set to 22241097
Phenotypes for Region: ISCA-37431-Gain were set to Chromosome 17q11.2 duplication syndrome, 1.4-Mb MIM#618874; NF1 microduplication; intellectual disability; micro- and macrocephaly; seizures; dysmorphic features
Review for Region: ISCA-37431-Gain was set to GREEN
Added comment: The NF1 microduplication syndrome is characterized by mild to moderate impairment of intellectual development and mild facial dysmorphisms, with variable other features including early-onset baldness, tooth enamel hypoplasia, seizures, and macro- or microcephaly. Neurofibromas have not been reported
Sources: Expert list
Mendeliome v0.5537 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Mendeliome v0.5537 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Mendeliome v0.5537 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100
Mendeliome v0.5536 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
Mendeliome v0.5535 ALDH7A1 Zornitza Stark Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5534 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5534 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Mendeliome v0.5534 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Mendeliome v0.5534 PRPS1 Zornitza Stark Phenotypes for gene: PRPS1 were changed from to Arts syndrome MIM#301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 MIM#311070; Deafness, X-linked 1 MIM#304500; Gout, PRPS-related MIM#300661; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661
Mendeliome v0.5533 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to
Mendeliome v0.5532 PRPS1 Zornitza Stark Mode of pathogenicity for gene: PRPS1 was changed from to Other
Mendeliome v0.5531 PRPS1 Zornitza Stark Mode of inheritance for gene: PRPS1 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)
Genetic Epilepsy v0.942 WWOX Zornitza Stark Marked gene: WWOX as ready
Genetic Epilepsy v0.942 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Genetic Epilepsy v0.942 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from to Developmental and epileptic encephalopathy 28, MIM# 616211
Genetic Epilepsy v0.941 WWOX Zornitza Stark Publications for gene: WWOX were set to
Genetic Epilepsy v0.940 WWOX Zornitza Stark Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.939 WWOX Zornitza Stark Tag SV/CNV tag was added to gene: WWOX.
Genetic Epilepsy v0.939 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 24456803, 25411445, 32051108, 32037574; Phenotypes: Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3236 HIVEP2 Zornitza Stark Marked gene: HIVEP2 as ready
Intellectual disability syndromic and non-syndromic v0.3236 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3236 HIVEP2 Zornitza Stark Phenotypes for gene: HIVEP2 were changed from to Mental retardation, autosomal dominant 43, MIM# 616977
Intellectual disability syndromic and non-syndromic v0.3235 HIVEP2 Zornitza Stark Publications for gene: HIVEP2 were set to
Intellectual disability syndromic and non-syndromic v0.3234 HIVEP2 Zornitza Stark Mode of inheritance for gene: HIVEP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3233 HIVEP2 Zornitza Stark reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26153216, 27003583, 16836985, 31602191, 31207095; Phenotypes: Mental retardation, autosomal dominant 43, MIM# 616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5530 HIVEP2 Zornitza Stark Marked gene: HIVEP2 as ready
Mendeliome v0.5530 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Green List (High Evidence).
Mendeliome v0.5530 HIVEP2 Zornitza Stark Phenotypes for gene: HIVEP2 were changed from to Mental retardation, autosomal dominant 43 MIM#616977
Mendeliome v0.5529 HIVEP2 Zornitza Stark Publications for gene: HIVEP2 were set to
Mendeliome v0.5528 HIVEP2 Zornitza Stark Mode of inheritance for gene: HIVEP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5527 HIVEP2 Zornitza Stark reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26153216, 27003583, 16836985, 31602191; Phenotypes: Mental retardation, autosomal dominant 43, MIM# 616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome_PREGEN_DRAFT v0.3 FBN1 Tony Roscioli reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 EWSR1 Tony Roscioli reviewed gene: EWSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ETV6 Tony Roscioli reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ERC1 Tony Roscioli reviewed gene: ERC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 EPHB2 Tony Roscioli reviewed gene: EPHB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 EPCAM Tony Roscioli reviewed gene: EPCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ELAC2 Tony Roscioli reviewed gene: ELAC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 EGFR Tony Roscioli reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DSP Tony Roscioli reviewed gene: DSP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DSG2 Tony Roscioli reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DSC2 Tony Roscioli reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DIRC3 Tony Roscioli reviewed gene: DIRC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DDIT3 Tony Roscioli reviewed gene: DDIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CHMP2B Tony Roscioli reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CHEK2 Tony Roscioli reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CDKN2A Tony Roscioli reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CDK4 Tony Roscioli reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 C9orf72 Tony Roscioli reviewed gene: C9orf72: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BCR Tony Roscioli reviewed gene: BCR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BAP1 Tony Roscioli reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 APP Tony Roscioli reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 APC Tony Roscioli commented on gene: APC
Incidentalome_PREGEN_DRAFT v0.3 CST3 Tony Roscioli reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CSF3R Tony Roscioli reviewed gene: CSF3R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CREB3L2 Tony Roscioli reviewed gene: CREB3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CREB3L1 Tony Roscioli reviewed gene: CREB3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 COL3A1 Tony Roscioli reviewed gene: COL3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CDH1 Tony Roscioli reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CCND1 Tony Roscioli reviewed gene: CCND1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CCDC6 Tony Roscioli reviewed gene: CCDC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CACNA1S Tony Roscioli reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None