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Mendeliome v0.13681 COQ8B Ain Roesley Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 MIM#615573
Mendeliome v0.13681 COQ8B Ain Roesley Publications for gene: COQ8B were set to
Mendeliome v0.13681 COQ8B Ain Roesley Mode of inheritance for gene: COQ8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13680 COQ8B Ain Roesley reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24270420; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13680 COQ8A Ain Roesley Marked gene: COQ8A as ready
Mendeliome v0.13680 COQ8A Ain Roesley Gene: coq8a has been classified as Green List (High Evidence).
Mendeliome v0.13680 COQ8A Ain Roesley Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4 MIM#612016
Mendeliome v0.13680 COQ8A Ain Roesley Publications for gene: COQ8A were set to
Mendeliome v0.13680 COQ8A Ain Roesley Mode of inheritance for gene: COQ8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13679 COQ8A Ain Roesley reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13679 COQ7 Ain Roesley Marked gene: COQ7 as ready
Mendeliome v0.13679 COQ7 Ain Roesley Gene: coq7 has been classified as Green List (High Evidence).
Mendeliome v0.13679 COQ7 Ain Roesley Phenotypes for gene: COQ7 were changed from to Coenzyme Q10 deficiency, primary, 8 MIM#616733
Mendeliome v0.13679 COQ7 Ain Roesley Publications for gene: COQ7 were set to
Mendeliome v0.13679 COQ7 Ain Roesley Mode of inheritance for gene: COQ7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13678 COQ7 Ain Roesley reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26084283, 31240163, 33215859, 28409910; Phenotypes: Coenzyme Q10 deficiency, primary, 8 MIM#616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13678 COQ6 Ain Roesley Marked gene: COQ6 as ready
Mendeliome v0.13678 COQ6 Ain Roesley Gene: coq6 has been classified as Green List (High Evidence).
Mendeliome v0.13678 COQ6 Ain Roesley Publications for gene: COQ6 were set to
Mendeliome v0.13678 COQ6 Ain Roesley Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 MIM#614650
Mendeliome v0.13678 COQ6 Ain Roesley Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13677 COQ6 Ain Roesley reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28125198; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13677 COMP Ain Roesley Publications for gene: COMP were set to
Mendeliome v0.13676 COMP Ain Roesley Phenotypes for gene: COMP were changed from to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170
Mendeliome v0.13676 COMP Ain Roesley Mode of inheritance for gene: COMP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13675 COMP Ain Roesley Tag STR tag was added to gene: COMP.
Mendeliome v0.13675 COMP Ain Roesley reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301302, 20301660; Phenotypes: Epiphyseal dysplasia, multiple, 1 MIM#132400, Pseudoachondroplasia MIM#177170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13675 COL9A2 Ain Roesley Marked gene: COL9A2 as ready
Mendeliome v0.13675 COL9A2 Ain Roesley Gene: col9a2 has been classified as Green List (High Evidence).
Mendeliome v0.13675 COL9A2 Ain Roesley Publications for gene: COL9A2 were set to
Mendeliome v0.13675 COL9A2 Ain Roesley Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204
Mendeliome v0.13675 COL9A2 Ain Roesley Mode of inheritance for gene: COL9A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13674 COL9A2 Ain Roesley reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723, 10364514, 15633184, 20358595, 8528240; Phenotypes: Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Monogenic Diabetes v0.23 DYRK1B Krithika Murali reviewed gene: DYRK1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34193236, 34786696, 24827035, 28743892; Phenotypes: Abdominal obesity-metabolic syndrome 3 - MIM#615812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13674 DYRK1B Krithika Murali reviewed gene: DYRK1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34193236, 34786696, 24827035, 28743892; Phenotypes: Abdominal obesity-metabolic syndrome 3 - MIM#615812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13674 COL6A3 Ain Roesley Marked gene: COL6A3 as ready
Mendeliome v0.13674 COL6A3 Ain Roesley Gene: col6a3 has been classified as Green List (High Evidence).
Mendeliome v0.13674 COL6A3 Ain Roesley Publications for gene: COL6A3 were set to
Mendeliome v0.13674 COL6A3 Ain Roesley Phenotypes for gene: COL6A3 were changed from to Bethlem myopathy 1 MIM#158810; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090
Mendeliome v0.13674 COL6A3 Ain Roesley Mode of inheritance for gene: COL6A3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13673 COL6A3 Ain Roesley edited their review of gene: COL6A3: Changed publications: 20301676, 26004199, 32037012, 26872670, 32037012
Mendeliome v0.13673 COL6A2 Ain Roesley edited their review of gene: COL6A2: Changed publications: 20301676
Mendeliome v0.13673 COL6A2 Ain Roesley edited their review of gene: COL6A2: Changed publications: 20301676, 26004199, 32037012, 26872670, 32037012
Mendeliome v0.13673 COL6A3 Ain Roesley reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676; Phenotypes: Bethlem myopathy 1 MIM#158810, Dystonia 27 MIM#616411, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13673 COL6A2 Ain Roesley changed review comment from: GeneReviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly

COL621 accounts for 44-46% of Collagen VI-Related Dystrophies cases; to: GeneReviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly

COL6A2 accounts for 44-46% of Collagen VI-Related Dystrophies cases
Mendeliome v0.13673 COL6A2 Ain Roesley Marked gene: COL6A2 as ready
Mendeliome v0.13673 COL6A2 Ain Roesley Gene: col6a2 has been classified as Green List (High Evidence).
Mendeliome v0.13673 COL6A2 Ain Roesley Phenotypes for gene: COL6A2 were changed from to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
Mendeliome v0.13672 COL6A2 Ain Roesley Publications for gene: COL6A2 were set to
Mendeliome v0.13672 COL6A2 Ain Roesley Mode of inheritance for gene: COL6A2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13671 COL6A2 Ain Roesley reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676; Phenotypes: Bethlem myopathy 1 MIM#158810, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13671 COL6A1 Ain Roesley changed review comment from: Well established association

Genereviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly; to: Well established association

Genereviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly

COL6A1 accounts for 35-38% of Collagen VI-Related Dystrophies cases
Mendeliome v0.13671 COL6A1 Ain Roesley Marked gene: COL6A1 as ready
Mendeliome v0.13671 COL6A1 Ain Roesley Gene: col6a1 has been classified as Green List (High Evidence).
Mendeliome v0.13671 COL6A1 Ain Roesley Phenotypes for gene: COL6A1 were changed from to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
Mendeliome v0.13671 COL6A1 Ain Roesley Publications for gene: COL6A1 were set to
Mendeliome v0.13670 COL6A1 Ain Roesley edited their review of gene: COL6A1: Changed publications: 20301676, 25535305, 15955946, 23738969, 29277723, 24443028; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13670 COL6A1 Ain Roesley Mode of inheritance for gene: COL6A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13669 COL6A1 Ain Roesley changed review comment from: Well established association

Both loss-of-function and dominant negative mechanism has been reported for this gene. Mutations result in a spectrum of disease, ranging from the milder Bethlem myopathy (monoallelic) to the more severe Ullrich congenital muscular dystrophy (biallelic) (PMID: 29277723; 24443028).
Sources: Literature; to: Well established association

Genereviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly
Mendeliome v0.13669 COL6A1 Ain Roesley reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25535305, 15955946, 23738969, 29277723, 24443028; Phenotypes: Bethlem myopathy MIM#158810, Ullrich congenital muscular dystrophy MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13669 COL5A2 Ain Roesley Marked gene: COL5A2 as ready
Mendeliome v0.13669 COL5A2 Ain Roesley Gene: col5a2 has been classified as Green List (High Evidence).
Mendeliome v0.13669 COL5A2 Ain Roesley Publications for gene: COL5A2 were set to
Mendeliome v0.13670 COL5A2 Ain Roesley Phenotypes for gene: COL5A2 were changed from to Ehlers-Danlos syndrome, classic type, 2 MIM#130010
Mendeliome v0.13669 COL5A2 Ain Roesley Mode of inheritance for gene: COL5A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13668 COL5A2 Ain Roesley reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301422; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 MIM#130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13668 COL4A4 Ain Roesley Marked gene: COL4A4 as ready
Mendeliome v0.13668 COL4A4 Ain Roesley Gene: col4a4 has been classified as Green List (High Evidence).
Mendeliome v0.13668 COL4A4 Ain Roesley Phenotypes for gene: COL4A4 were changed from to Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200
Mendeliome v0.13667 COL4A4 Ain Roesley Publications for gene: COL4A4 were set to
Mendeliome v0.13667 COL4A4 Ain Roesley Mode of inheritance for gene: COL4A4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13666 COL4A4 Ain Roesley reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301386; Phenotypes: Alport syndrome 2, autosomal recessive MIM#203780, Hematuria, familial benign MIM#141200; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13666 COL4A3 Ain Roesley Marked gene: COL4A3 as ready
Mendeliome v0.13666 COL4A3 Ain Roesley Gene: col4a3 has been classified as Green List (High Evidence).
Mendeliome v0.13666 COL4A3 Ain Roesley Phenotypes for gene: COL4A3 were changed from to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200
Mendeliome v0.13666 COL4A3 Ain Roesley Mode of inheritance for gene: COL4A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13665 COL4A3 Ain Roesley reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780, Alport syndrome 3, autosomal dominant, MIM# 104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13665 COL4A2 Ain Roesley Marked gene: COL4A2 as ready
Mendeliome v0.13665 COL4A2 Ain Roesley Gene: col4a2 has been classified as Green List (High Evidence).
Mendeliome v0.13665 COL4A2 Ain Roesley Publications for gene: COL4A2 were set to
Mendeliome v0.13665 COL4A2 Ain Roesley Phenotypes for gene: COL4A2 were changed from to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483
Mendeliome v0.13665 COL4A2 Ain Roesley Mode of inheritance for gene: COL4A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13664 COL4A2 Ain Roesley reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 33912663, 22209246, 30315939, 22333902; Phenotypes: Cerebral Palsy MONDO#0006497, COL4A2-related, Brain small vessel disease 2 MIM# 614483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13664 COL4A1 Ain Roesley Marked gene: COL4A1 as ready
Mendeliome v0.13664 COL4A1 Ain Roesley Gene: col4a1 has been classified as Green List (High Evidence).
Mendeliome v0.13664 COL4A1 Ain Roesley Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564
Mendeliome v0.13663 COL4A1 Ain Roesley Publications for gene: COL4A1 were set to
Mendeliome v0.13663 COL4A1 Ain Roesley Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13662 COL4A1 Ain Roesley reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24628545, 25719457, 21625620, 23225343, 23065703, 20818663, 20301768; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13662 HMOX1 Zornitza Stark Marked gene: HMOX1 as ready
Mendeliome v0.13662 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13662 HMOX1 Zornitza Stark Phenotypes for gene: HMOX1 were changed from to Heme oxygenase-1 deficiency, MIM# 614034; Asplenia
Mendeliome v0.13661 HMOX1 Zornitza Stark Publications for gene: HMOX1 were set to
Mendeliome v0.13660 HMOX1 Zornitza Stark Mode of inheritance for gene: HMOX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13659 HMOX1 Zornitza Stark Classified gene: HMOX1 as Amber List (moderate evidence)
Mendeliome v0.13659 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13658 COL27A1 Ain Roesley edited their review of gene: COL27A1: Changed phenotypes: Steel syndrome MIM #615155
Mendeliome v0.13658 COL27A1 Ain Roesley Marked gene: COL27A1 as ready
Mendeliome v0.13658 COL27A1 Ain Roesley Gene: col27a1 has been classified as Green List (High Evidence).
Mendeliome v0.13658 COL27A1 Ain Roesley Phenotypes for gene: COL27A1 were changed from to Steel syndrome, MIM #615155
Mendeliome v0.13657 COL27A1 Ain Roesley Publications for gene: COL27A1 were set to
Mendeliome v0.13657 COL27A1 Ain Roesley Mode of inheritance for gene: COL27A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13656 COL27A1 Ain Roesley reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24986830, 28276056, 28322503, 32360765, 33963180; Phenotypes: Steel syndrome, OMIM #615155; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13656 COL1A2 Ain Roesley edited their review of gene: COL1A2: Changed phenotypes: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120, Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220
Mendeliome v0.13656 COL1A2 Ain Roesley Marked gene: COL1A2 as ready
Mendeliome v0.13656 COL1A2 Ain Roesley Gene: col1a2 has been classified as Green List (High Evidence).
Mendeliome v0.13656 COL1A2 Ain Roesley Phenotypes for gene: COL1A2 were changed from to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Mendeliome v0.13655 COL1A2 Ain Roesley Publications for gene: COL1A2 were set to
Mendeliome v0.13654 COL1A2 Ain Roesley Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13653 COL1A2 Ain Roesley reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 32091183, 2993307, 30821104; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821, Ehlers-Danlos syndrome, cardiac valvular type MIM#225320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13653 COL1A1 Ain Roesley changed review comment from: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)

The mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).; to: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)

For skeletal phenotypes:
The mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).
Mendeliome v0.13653 COL1A1 Ain Roesley changed review comment from: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667); to: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)

The mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).
Mendeliome v0.13653 COL1A1 Ain Roesley Marked gene: COL1A1 as ready
Mendeliome v0.13653 COL1A1 Ain Roesley Gene: col1a1 has been classified as Green List (High Evidence).
Mendeliome v0.13653 COL1A1 Ain Roesley Publications for gene: COL1A1 were set to
Mendeliome v0.13653 COL1A1 Ain Roesley Phenotypes for gene: COL1A1 were changed from to Caffey disease MIM#114000; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115; Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060; Osteogenesis imperfecta, type I MIM#166200; Osteogenesis imperfecta, type II MIM#166210; Osteogenesis imperfecta, type III MIM#259420; Osteogenesis imperfecta, type IV MIM#166220
Mendeliome v0.13653 COL1A1 Ain Roesley Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13652 COL1A1 Ain Roesley reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301422, 20301667, 30071989, 28981071, 12362985, 28956891; Phenotypes: Caffey disease MIM#114000, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115, Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060, Osteogenesis imperfecta, type I MIM#166200, Osteogenesis imperfecta, type II MIM#166210, Osteogenesis imperfecta, type III MIM#259420, Osteogenesis imperfecta, type IV MIM#166220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13652 COL18A1 Ain Roesley Marked gene: COL18A1 as ready
Mendeliome v0.13652 COL18A1 Ain Roesley Gene: col18a1 has been classified as Green List (High Evidence).
Mendeliome v0.13652 COL18A1 Ain Roesley Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750
Mendeliome v0.13651 COL18A1 Ain Roesley Publications for gene: COL18A1 were set to
Mendeliome v0.13651 COL18A1 Ain Roesley Mode of inheritance for gene: COL18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13651 COL18A1 Ain Roesley Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13650 COL18A1 Ain Roesley reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167, 25456301; Phenotypes: Knobloch syndrome, type 1, MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13650 COL17A1 Ain Roesley Marked gene: COL17A1 as ready
Mendeliome v0.13650 COL17A1 Ain Roesley Gene: col17a1 has been classified as Green List (High Evidence).
Mendeliome v0.13650 COL17A1 Ain Roesley Publications for gene: COL17A1 were set to
Mendeliome v0.13650 COL17A1 Ain Roesley Phenotypes for gene: COL17A1 were changed from to Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Epithelial recurrent erosion dystrophy MIM#122400
Mendeliome v0.13650 COL17A1 Ain Roesley Mode of inheritance for gene: COL17A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13649 COL17A1 Ain Roesley commented on gene: COL17A1: For Epithelial recurrent erosion dystrophy, AD:
Multiple families reported, c.3156C>T is recurrent.

For EB, AR:
well established association (GeneReviews PMID:20301304)
Mendeliome v0.13649 COL17A1 Ain Roesley reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27309958, 29708937, 25676728, 20301304; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate MIM#619787, Epithelial recurrent erosion dystrophy MIM#122400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13649 COL12A1 Ain Roesley Marked gene: COL12A1 as ready
Mendeliome v0.13649 COL12A1 Ain Roesley Gene: col12a1 has been classified as Green List (High Evidence).
Mendeliome v0.13649 COL12A1 Ain Roesley Publications for gene: COL12A1 were set to 28306229; 31273343; 24334604
Mendeliome v0.13648 COL12A1 Ain Roesley Publications for gene: COL12A1 were set to
Mendeliome v0.13648 COL12A1 Ain Roesley Phenotypes for gene: COL12A1 were changed from to Myopathic EDS; Bethlem myopathy 2 MIM#616471; Ullrich congenital muscular dystrophy 2 MIM#616470
Mendeliome v0.13648 COL12A1 Ain Roesley Mode of inheritance for gene: COL12A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13647 COL12A1 Ain Roesley reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 31273343, 24334604; Phenotypes: Myopathic EDS, Bethlem myopathy 2 MIM#616471, Ullrich congenital muscular dystrophy 2 MIM#616470; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13647 COL11A2 Ain Roesley Marked gene: COL11A2 as ready
Mendeliome v0.13647 COL11A2 Ain Roesley Gene: col11a2 has been classified as Green List (High Evidence).
Mendeliome v0.13647 COL11A2 Ain Roesley Phenotypes for gene: COL11A2 were changed from to Stickler syndrome type 3; Deafness, autosomal dominant 13 MIM#601868; Deafness, autosomal recessive 53 MIM#609706; Fibrochondrogenesis 2 MIM#614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150
Mendeliome v0.13646 COL11A2 Ain Roesley Publications for gene: COL11A2 were set to
Mendeliome v0.13646 COL11A2 Ain Roesley Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13645 COL11A2 Ain Roesley reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917, 25240749, 22796475, 20112039; Phenotypes: Stickler syndrome type 3, Deafness, autosomal dominant 13 MIM#601868, Deafness, autosomal recessive 53 MIM#609706, Fibrochondrogenesis 2 MIM#614524, Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13645 COG7 Ain Roesley Marked gene: COG7 as ready
Mendeliome v0.13645 COG7 Ain Roesley Gene: cog7 has been classified as Green List (High Evidence).
Mendeliome v0.13645 COG7 Ain Roesley Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Mendeliome v0.13644 COG7 Ain Roesley Publications for gene: COG7 were set to
Mendeliome v0.13644 COG7 Ain Roesley Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13643 COG7 Ain Roesley 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; Current diagnostic: yes
Mendeliome v0.13643 COASY Ain Roesley Marked gene: COASY as ready
Mendeliome v0.13643 COASY Ain Roesley Gene: coasy has been classified as Green List (High Evidence).
Mendeliome v0.13643 COASY Ain Roesley Publications for gene: COASY were set to
Mendeliome v0.13643 COASY Ain Roesley Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#v618266
Mendeliome v0.13643 COASY Ain Roesley Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13642 COASY Ain Roesley changed review comment from: Green for both NBIA and PCH; to: Green for both NBIA and PCH

only 2 variants reported for PCH - a fs (c.1549_1550delAG) and c.1486-3C>G (Recurrent)
Mendeliome v0.13642 COASY Ain Roesley reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089828, 28489334, 24360804, 35499143; Phenotypes: Neurodegeneration with brain iron accumulation 6 MIM#615643, Pontocerebellar hypoplasia, type 12 MIM#v618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.24 COASY Ain Roesley Publications for gene: COASY were set to 30089828
Fetal anomalies v1.23 COASY Ain Roesley Classified gene: COASY as Green List (high evidence)
Fetal anomalies v1.23 COASY Ain Roesley Gene: coasy has been classified as Green List (High Evidence).
Fetal anomalies v1.22 COASY Ain Roesley edited their review of gene: COASY: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.22 COASY Ain Roesley reviewed gene: COASY: Rating: ; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12, MIM#618266; Mode of inheritance: None; Current diagnostic: yes
Arthrogryposis v0.341 COASY Ain Roesley changed review comment from: 5 more families with arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.


c.1486-3C>G is the variant identified in all families; to: 5 more families with PCH and arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.


c.1486-3C>G is the variant identified in all families
Arthrogryposis v0.341 COASY Ain Roesley Publications for gene: COASY were set to 30089828
Arthrogryposis v0.341 COASY Ain Roesley Classified gene: COASY as Green List (high evidence)
Arthrogryposis v0.341 COASY Ain Roesley Gene: coasy has been classified as Green List (High Evidence).
Arthrogryposis v0.340 COASY Ain Roesley changed review comment from: 5 more families. But 1 family did not have the affecteds sequenced, presumed homozygous as parents are carriers.

arthrogryposis reported in 4 families

c.1486-3C>G is the variant identified in all families; to: 5 more families with arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.


c.1486-3C>G is the variant identified in all families
Arthrogryposis v0.340 COASY Ain Roesley reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebellar and Pontocerebellar Hypoplasia v1.48 COASY Ain Roesley Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804
Cerebellar and Pontocerebellar Hypoplasia v1.48 COASY Ain Roesley Classified gene: COASY as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.48 COASY Ain Roesley Gene: coasy has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.47 COASY Ain Roesley reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13642 HMBS Zornitza Stark Marked gene: HMBS as ready
Mendeliome v0.13642 HMBS Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence).
Mendeliome v0.13642 HMBS Zornitza Stark Phenotypes for gene: HMBS were changed from to Porphyria, acute intermittent, MIM#176000; Porphyria, acute intermittent, non-erythroid variant, MIM#176000
Mendeliome v0.13641 HMBS Zornitza Stark Mode of inheritance for gene: HMBS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13640 HMBS Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, acute intermittent, MIM#176000, Porphyria, acute intermittent, non-erythroid variant, MIM#176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13640 HK1 Zornitza Stark Marked gene: HK1 as ready
Mendeliome v0.13640 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Mendeliome v0.13640 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from to Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Haemolytic anaemia due to hexokinase deficiency, MIM# 235700; Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547; Retinitis pigmentosa 79, MIM# 617460
Mendeliome v0.13639 HK1 Zornitza Stark Publications for gene: HK1 were set to
Mendeliome v0.13638 HK1 Zornitza Stark Mode of inheritance for gene: HK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13637 HK1 Zornitza Stark changed review comment from: HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy.

Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.

Note gene is associated with other phenotypes.; to: Bi-allelic variants and neuropathy: HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy.

Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.

Note gene is associated with other phenotypes.
Mendeliome v0.13637 HK1 Zornitza Stark edited their review of gene: HK1: Added comment: Mono-allelic variants and ID: PMID30778173, 7 patients from 6 unrelated families with denovo missense variants in the N-terminal half of HK1

Mono-allelic variants and RP: Seven families reported with the same heterozygous missense variant, p.Glu847Lys and RP from different ethnicities. Some supportive evidence. Variant is present in 3 hets in gnomad.

Bi-allelic variants and haemolytic anaemia: more than 10 families reported.; Changed publications: 19536174, 30778173, 25316723, 25190649, 31621442, 32814480, 7655856, 12393545, 33361148, 31119733, 27282571; Changed phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285, Haemolytic anaemia due to hexokinase deficiency, MIM# 235700, Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547, Retinitis pigmentosa 79, MIM# 617460; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4729 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Intellectual disability syndromic and non-syndromic v0.4728 GNAI1 Zornitza Stark edited their review of gene: GNAI1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Genetic Epilepsy v0.1583 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Genetic Epilepsy v0.1582 GNAI1 Zornitza Stark edited their review of gene: GNAI1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Mendeliome v0.13637 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Mendeliome v0.13636 GNAI1 Zornitza Stark edited their review of gene: GNAI1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Mendeliome v0.13636 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Mendeliome v0.13636 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Mendeliome v0.13636 RPE65 Zornitza Stark Phenotypes for gene: RPE65 were changed from to Leber congenital amaurosis 2 MIM#204100; Retinitis pigmentosa 20 MIM#613794; Retinitis pigmentosa 87 with choroidal involvement MIM#618697
Mendeliome v0.13635 RPE65 Zornitza Stark Publications for gene: RPE65 were set to
Mendeliome v0.13634 RPE65 Zornitza Stark Mode of inheritance for gene: RPE65 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.111 RRAS Zornitza Stark Marked gene: RRAS as ready
Macrocephaly_Megalencephaly v0.111 RRAS Zornitza Stark Gene: rras has been classified as Red List (Low Evidence).
Mendeliome v0.13633 SLC24A1 Zornitza Stark Marked gene: SLC24A1 as ready
Mendeliome v0.13633 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Green List (High Evidence).
Mendeliome v0.13633 SLC24A1 Zornitza Stark Phenotypes for gene: SLC24A1 were changed from to Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450
Mendeliome v0.13632 SLC24A1 Zornitza Stark Publications for gene: SLC24A1 were set to
Mendeliome v0.13631 SLC24A1 Zornitza Stark Mode of inheritance for gene: SLC24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13630 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Mendeliome v0.13630 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Mendeliome v0.13630 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Mendeliome v0.13629 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Mendeliome v0.13628 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.111 RRAS Zornitza Stark Phenotypes for gene: RRAS were changed from Noonan syndrome, MONDO:0018997 to Noonan syndrome, MONDO:0018997
Macrocephaly_Megalencephaly v0.111 RRAS Zornitza Stark Phenotypes for gene: RRAS were changed from to Noonan syndrome, MONDO:0018997
Mendeliome v0.13627 RRAS Zornitza Stark Marked gene: RRAS as ready
Mendeliome v0.13627 RRAS Zornitza Stark Gene: rras has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.110 RRAS Zornitza Stark Publications for gene: RRAS were set to
Macrocephaly_Megalencephaly v0.109 RRAS Zornitza Stark Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.108 RRAS Zornitza Stark Classified gene: RRAS as Red List (low evidence)
Macrocephaly_Megalencephaly v0.108 RRAS Zornitza Stark Gene: rras has been classified as Red List (Low Evidence).
Mendeliome v0.13627 RRAS Zornitza Stark Phenotypes for gene: RRAS were changed from to Noonan syndrome, MONDO:0018997
Mendeliome v0.13626 RRAS Zornitza Stark Publications for gene: RRAS were set to
Mendeliome v0.13625 RRAS Zornitza Stark Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13624 RRAS Zornitza Stark Classified gene: RRAS as Amber List (moderate evidence)
Mendeliome v0.13624 RRAS Zornitza Stark Gene: rras has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13623 RRAS Zornitza Stark reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: None; Publications: 24705357; Phenotypes: Noonan syndrome, MONDO:0018997; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13623 SLC11A1 Zornitza Stark Marked gene: SLC11A1 as ready
Mendeliome v0.13623 SLC11A1 Zornitza Stark Gene: slc11a1 has been classified as Red List (Low Evidence).
Mendeliome v0.13623 SLC11A1 Zornitza Stark Phenotypes for gene: SLC11A1 were changed from to {Buruli ulcer, susceptibility to}, MIM#610446; {Mycobacterium tuberculosis, susceptibility to infection by} , MIM#607948
Mendeliome v0.13622 SLC11A1 Zornitza Stark Mode of inheritance for gene: SLC11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13621 SLC11A1 Zornitza Stark Publications for gene: SLC11A1 were set to
Mendeliome v0.13620 SLC11A1 Zornitza Stark Classified gene: SLC11A1 as Red List (low evidence)
Mendeliome v0.13620 SLC11A1 Zornitza Stark Gene: slc11a1 has been classified as Red List (Low Evidence).
Mendeliome v0.13619 LIPT2 Zornitza Stark commented on gene: LIPT2: Three individuals from two unrelated families, functional data.
Mendeliome v0.13619 LIPT2 Zornitza Stark edited their review of gene: LIPT2: Changed publications: 28757203
Mendeliome v0.13619 LIPT2 Zornitza Stark reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM# 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13619 SIL1 Zornitza Stark Marked gene: SIL1 as ready
Mendeliome v0.13619 SIL1 Zornitza Stark Gene: sil1 has been classified as Green List (High Evidence).
Mendeliome v0.13619 SIL1 Zornitza Stark Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, MIM#248800; MONDO#0009567
Mendeliome v0.13618 SIL1 Zornitza Stark Publications for gene: SIL1 were set to
Mendeliome v0.13617 SIL1 Zornitza Stark Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13616 LIPC Zornitza Stark edited their review of gene: LIPC: Changed phenotypes: Hepatic lipase deficiency, MIM# 614025, Hyperlipidemia due to hepatic triglyceride lipase deficiency, MONDO:0013533
Mendeliome v0.13616 LIPC Zornitza Stark edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 23219720, 26423094, 22464213, 22798447
Mendeliome v0.13616 LIPC Zornitza Stark edited their review of gene: LIPC: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13616 LIPC Zornitza Stark reviewed gene: LIPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic lipase deficiency, MIM# 614025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.333 LIM2 Zornitza Stark Marked gene: LIM2 as ready
Cataract v0.333 LIM2 Zornitza Stark Gene: lim2 has been classified as Green List (High Evidence).
Cataract v0.333 LIM2 Zornitza Stark Phenotypes for gene: LIM2 were changed from to Cataract 19, multiple types, MIM# 615277
Cataract v0.332 LIM2 Zornitza Stark Publications for gene: LIM2 were set to
Cataract v0.331 LIM2 Zornitza Stark Mode of inheritance for gene: LIM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.330 LIM2 Zornitza Stark reviewed gene: LIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7814360, 11917274, 18596884, 33708862, 32202185, 21617753; Phenotypes: Cataract 19, multiple types, MIM# 615277; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4728 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
Intellectual disability syndromic and non-syndromic v0.4728 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4728 MCCC2 Zornitza Stark Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210)
Intellectual disability syndromic and non-syndromic v0.4727 MCCC2 Zornitza Stark Publications for gene: MCCC2 were set to
Intellectual disability syndromic and non-syndromic v0.4726 MCCC2 Zornitza Stark Mode of inheritance for gene: MCCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4725 MCCC2 Zornitza Stark Classified gene: MCCC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4725 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13616 RPE65 Belinda Chong reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: 14962443, 12960219, 11786058, 21654732, 27307694, 9501220, 16754667, 15557452; Phenotypes: Leber congenital amaurosis 2 MIM#204100, Retinitis pigmentosa 20 MIM#613794, Retinitis pigmentosa 87 with choroidal involvement MIM#618697; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4724 MCCC2 Zornitza Stark reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4724 SIK1 Zornitza Stark Marked gene: SIK1 as ready
Intellectual disability syndromic and non-syndromic v0.4724 SIK1 Zornitza Stark Gene: sik1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4724 SIK1 Zornitza Stark Phenotypes for gene: SIK1 were changed from to Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062
Intellectual disability syndromic and non-syndromic v0.4723 SIK1 Zornitza Stark Publications for gene: SIK1 were set to
Intellectual disability syndromic and non-syndromic v0.4722 SIK1 Zornitza Stark Mode of inheritance for gene: SIK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4721 SIK1 Zornitza Stark reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25839329, 27966542, 35267137; Phenotypes: Developmental and epileptic encephalopathy 30, MIM#616341, developmental and epileptic encephalopathy, MONDO#0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1582 SIK1 Zornitza Stark Marked gene: SIK1 as ready
Genetic Epilepsy v0.1582 SIK1 Zornitza Stark Gene: sik1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1582 SIK1 Zornitza Stark Phenotypes for gene: SIK1 were changed from to Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062
Genetic Epilepsy v0.1581 SIK1 Zornitza Stark Publications for gene: SIK1 were set to
Genetic Epilepsy v0.1580 SIK1 Zornitza Stark Mode of inheritance for gene: SIK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1579 SIK1 Zornitza Stark reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25839329, 27966542, 35267137; Phenotypes: Developmental and epileptic encephalopathy 30, MIM#616341, developmental and epileptic encephalopathy, MONDO#0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13616 SLC24A1 Manny Jacobs reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35486108, 35446361, 20850105, 26822852; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13616 SIK1 Zornitza Stark Marked gene: SIK1 as ready
Mendeliome v0.13616 SIK1 Zornitza Stark Gene: sik1 has been classified as Green List (High Evidence).
Mendeliome v0.13616 SIK1 Zornitza Stark Phenotypes for gene: SIK1 were changed from to Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062
Mendeliome v0.13615 SIK1 Zornitza Stark Publications for gene: SIK1 were set to
Mendeliome v0.13614 SIK1 Zornitza Stark Mode of inheritance for gene: SIK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13613 SLC25A1 Manny Jacobs reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.107 RRAS Belinda Chong reviewed gene: RRAS: Rating: RED; Mode of pathogenicity: None; Publications: 24705357, 32815881; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13613 RRAS Belinda Chong edited their review of gene: RRAS: Changed rating: AMBER
Mendeliome v0.13613 RRAS Belinda Chong changed review comment from: Catts et al (2021) identified a 7-year-old boy with a history of craniosynostosis, congenital heart defect, and mild dysmorphic features who was incidentally found to have pediatric MDS with monosomy 7 in the context of previously unrecognized germline RRAS mutation. A heterozygous c.116_118dup (NM_006270.5) variant resulting in p.G39dup was identified and excluded in an unaffected sibling, and both parents.

Two individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen (reviewed 27/04/2018).; to: Catts et al (2021) identified a 7-year-old boy with a history of craniosynostosis, congenital heart defect, and mild dysmorphic features who was incidentally found to have pediatric MDS with monosomy 7 in the context of previously unrecognized germline RRAS mutation. A heterozygous c.116_118dup (NM_006270.5) variant resulting in p.G39dup was identified and excluded in an unaffected sibling, and both parents.

Two individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen (reviewed 27/04/2018).
Mendeliome v0.13613 RRAS Belinda Chong reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24705357, 32815881; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13613 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Mendeliome v0.13613 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Mendeliome v0.13613 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Mendeliome v0.13612 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Mendeliome v0.13611 HIBCH Zornitza Stark Mode of inheritance for gene: HIBCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13610 HIBCH Zornitza Stark reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026795, 25251209, 24299452, 32677093; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13610 HGF Zornitza Stark Marked gene: HGF as ready
Mendeliome v0.13610 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Mendeliome v0.13610 HGF Zornitza Stark Phenotypes for gene: HGF were changed from to Deafness, autosomal recessive 39, MIM# 608265
Mendeliome v0.13609 HGF Zornitza Stark Publications for gene: HGF were set to
Mendeliome v0.13608 HGF Zornitza Stark Mode of inheritance for gene: HGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13607 HGF Zornitza Stark Tag deep intronic tag was added to gene: HGF.
Tag founder tag was added to gene: HGF.
Mendeliome v0.13607 HGF Zornitza Stark reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576567; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.124 HGF Zornitza Stark edited their review of gene: HGF: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13607 HGD Zornitza Stark Marked gene: HGD as ready
Mendeliome v0.13607 HGD Zornitza Stark Gene: hgd has been classified as Green List (High Evidence).
Mendeliome v0.13607 HGD Zornitza Stark Phenotypes for gene: HGD were changed from to Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism
Mendeliome v0.13606 HGD Zornitza Stark Publications for gene: HGD were set to
Mendeliome v0.13605 HGD Zornitza Stark Mode of inheritance for gene: HGD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13604 HFE Zornitza Stark Marked gene: HFE as ready
Mendeliome v0.13604 HFE Zornitza Stark Gene: hfe has been classified as Green List (High Evidence).
Mendeliome v0.13604 HFE Zornitza Stark Phenotypes for gene: HFE were changed from to Haemochromatosis, MIM# 235200
Mendeliome v0.13603 HFE Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13602 HFE Zornitza Stark reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13602 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Mendeliome v0.13602 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Mendeliome v0.13602 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from to Growth hormone deficiency with pituitary anomalies, MIM#182230; Pituitary hormone deficiency, combined, 5, MIM#182230; Septooptic dysplasia, MIM#182230
Mendeliome v0.13601 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13600 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone deficiency with pituitary anomalies, MIM#182230, Pituitary hormone deficiency, combined, 5, MIM#182230, Septooptic dysplasia, MIM#182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4721 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Intellectual disability syndromic and non-syndromic v0.4720 CHD8 Zornitza Stark edited their review of gene: CHD8: Changed phenotypes: {Autism, susceptibility to, 18} 615032, Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Overgrowth v1.8 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Overgrowth v1.7 CHD8 Zornitza Stark edited their review of gene: CHD8: Changed phenotypes: {Autism, susceptibility to, 18} 615032, Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Mendeliome v0.13600 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Mendeliome v0.13599 CHD8 Zornitza Stark edited their review of gene: CHD8: Changed phenotypes: {Autism, susceptibility to, 18} 615032, Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Mendeliome v0.13599 SLC11A1 Samantha Ayres reviewed gene: SLC11A1: Rating: RED; Mode of pathogenicity: None; Publications: 35140349; Phenotypes: {Buruli ulcer, susceptibility to}, MIM#610446, {Mycobacterium tuberculosis, susceptibility to infection by} , MIM#607948; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.4720 HERC1 Zornitza Stark Marked gene: HERC1 as ready
Intellectual disability syndromic and non-syndromic v0.4720 HERC1 Zornitza Stark Gene: herc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4720 HERC1 Zornitza Stark Phenotypes for gene: HERC1 were changed from to Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011
Intellectual disability syndromic and non-syndromic v0.4719 HERC1 Zornitza Stark Publications for gene: HERC1 were set to
Intellectual disability syndromic and non-syndromic v0.4718 HERC1 Zornitza Stark Mode of inheritance for gene: HERC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4717 HERC1 Zornitza Stark reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28323226, 27108999, 26153217, 26138117, 20041218; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13599 HERC1 Zornitza Stark Marked gene: HERC1 as ready
Mendeliome v0.13599 HERC1 Zornitza Stark Gene: herc1 has been classified as Green List (High Evidence).
Mendeliome v0.13599 HERC1 Zornitza Stark Phenotypes for gene: HERC1 were changed from to Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011
Mendeliome v0.13598 HERC1 Zornitza Stark Publications for gene: HERC1 were set to
Mendeliome v0.13597 HERC1 Zornitza Stark Mode of inheritance for gene: HERC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13596 HERC1 Zornitza Stark reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28323226, 27108999, 26153217, 26138117, 20041218; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13596 HEPACAM Zornitza Stark Marked gene: HEPACAM as ready
Mendeliome v0.13596 HEPACAM Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence).
Mendeliome v0.13596 HEPACAM Zornitza Stark Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926
Mendeliome v0.13595 HEPACAM Zornitza Stark Publications for gene: HEPACAM were set to
Mendeliome v0.13594 HEPACAM Zornitza Stark Mode of inheritance for gene: HEPACAM was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13593 HEPACAM Zornitza Stark reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380, 21419380; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13593 LIPT2 Alison Yeung Marked gene: LIPT2 as ready
Mendeliome v0.13593 LIPT2 Alison Yeung Gene: lipt2 has been classified as Green List (High Evidence).
Mendeliome v0.13593 LIPT2 Alison Yeung Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Mendeliome v0.13592 SIL1 Samantha Ayres reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977, 20301371; Phenotypes: Marinesco-Sjogren syndrome, MIM#248800, MONDO#0009567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.147 DNASE2 Zornitza Stark Phenotypes for gene: DNASE2 were changed from Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH to Autoinflammatory-pancytopaenia syndrome, MIM# 619858
Autoinflammatory Disorders v0.146 DNASE2 Zornitza Stark edited their review of gene: DNASE2: Changed phenotypes: Autoinflammatory-pancytopaenia syndrome, MIM# 619858
Mendeliome v0.13592 DNASE2 Zornitza Stark Phenotypes for gene: DNASE2 were changed from Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH to Autoinflammatory-pancytopaenia syndrome, MIM# 619858
Mendeliome v0.13591 DNASE2 Zornitza Stark edited their review of gene: DNASE2: Changed phenotypes: Autoinflammatory-pancytopenia syndrome, MIM# 619858
Mendeliome v0.13591 LIPT2 Alison Yeung Publications for gene: LIPT2 were set to
Mendeliome v0.13590 LIPT2 Alison Yeung Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13589 LIPH Alison Yeung Marked gene: LIPH as ready
Mendeliome v0.13589 LIPH Alison Yeung Gene: liph has been classified as Green List (High Evidence).
Mendeliome v0.13589 LIPH Alison Yeung Phenotypes for gene: LIPH were changed from to Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379; Hypotrichosis 7, MIM# 604379
Mendeliome v0.13588 LIPH Alison Yeung reviewed gene: LIPH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379, Hypotrichosis 7, MIM# 604379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13588 LIPH Alison Yeung Mode of inheritance for gene: LIPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13587 LIPC Alison Yeung Marked gene: LIPC as ready
Mendeliome v0.13587 LIPC Alison Yeung Gene: lipc has been classified as Green List (High Evidence).
Mendeliome v0.13587 LIPC Alison Yeung Phenotypes for gene: LIPC were changed from to Hepatic lipase deficiency MIM#614025; Hyperlipidemia due to hepatic triglyceride lipase deficiency, MONDO:0013533
Mendeliome v0.13586 LIPC Alison Yeung Publications for gene: LIPC were set to
Mendeliome v0.13585 LIPC Alison Yeung Added comment: Comment on mode of inheritance: PMID: 1671786, 12777476, 1883393, 22798447 - 7 cases from 3 unrelated families with hepatic lipase deficiency and biallelic variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Mendeliome v0.13585 LIPC Alison Yeung Mode of inheritance for gene: LIPC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13584 LINS1 Alison Yeung Mode of inheritance for gene: LINS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13583 LINS1 Alison Yeung Marked gene: LINS1 as ready
Mendeliome v0.13583 LINS1 Alison Yeung Gene: lins1 has been classified as Green List (High Evidence).
Mendeliome v0.13583 LINS1 Alison Yeung Phenotypes for gene: LINS1 were changed from to Intellectual developmental disorder, autosomal recessive 27, MIM# 614340
Mendeliome v0.13582 LINS1 Alison Yeung Publications for gene: LINS1 were set to
Intellectual disability syndromic and non-syndromic v0.4717 LINS1 Alison Yeung Phenotypes for gene: LINS1 were changed from Intellectual developmental disorder, autosomal recessive 27, MIM# 614340 to Intellectual developmental disorder, autosomal recessive 27, MIM# 614340
Intellectual disability syndromic and non-syndromic v0.4716 LINS1 Alison Yeung Phenotypes for gene: LINS1 were changed from to Intellectual developmental disorder, autosomal recessive 27, MIM# 614340
Intellectual disability syndromic and non-syndromic v0.4715 LINS1 Alison Yeung Marked gene: LINS1 as ready
Intellectual disability syndromic and non-syndromic v0.4715 LINS1 Alison Yeung Gene: lins1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4715 LINS1 Alison Yeung Publications for gene: LINS1 were set to
Intellectual disability syndromic and non-syndromic v0.4714 LINS1 Alison Yeung Mode of inheritance for gene: LINS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4713 LINS1 Alison Yeung reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32802957, 34450347, 32499722, 31922598; Phenotypes: ntellectual developmental disorder, autosomal recessive 27, MIM# 614340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13581 HCRT Zornitza Stark Marked gene: HCRT as ready
Mendeliome v0.13581 HCRT Zornitza Stark Gene: hcrt has been classified as Red List (Low Evidence).
Mendeliome v0.13581 HCRT Zornitza Stark Phenotypes for gene: HCRT were changed from to Narcolepsy 1 , MIM# 161400
Mendeliome v0.13580 HCRT Zornitza Stark Publications for gene: HCRT were set to
Mendeliome v0.13579 HCRT Zornitza Stark Mode of inheritance for gene: HCRT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13578 HCRT Zornitza Stark Classified gene: HCRT as Red List (low evidence)
Mendeliome v0.13578 HCRT Zornitza Stark Gene: hcrt has been classified as Red List (Low Evidence).
Mendeliome v0.13577 LIM2 Alison Yeung Marked gene: LIM2 as ready
Mendeliome v0.13577 LIM2 Alison Yeung Gene: lim2 has been classified as Green List (High Evidence).
Mendeliome v0.13577 HCRT Zornitza Stark reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: None; Publications: 10973318, 11148249, 11723284; Phenotypes: Narcolepsy 1 , MIM# 161400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13577 LIM2 Alison Yeung Phenotypes for gene: LIM2 were changed from to Cataract 19, multiple types, MIM# 615277
Mendeliome v0.13576 LIM2 Alison Yeung Publications for gene: LIM2 were set to
Mendeliome v0.13575 LIM2 Alison Yeung Mode of inheritance for gene: LIM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4713 HCN1 Zornitza Stark Marked gene: HCN1 as ready
Intellectual disability syndromic and non-syndromic v0.4713 HCN1 Zornitza Stark Gene: hcn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4713 HCN1 Zornitza Stark Phenotypes for gene: HCN1 were changed from to Developmental and epileptic encephalopathy 24, MIM# 615871; Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482
Mendeliome v0.13574 LIM2 Alison Yeung reviewed gene: LIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27814360, 11917274, 18596884, 33708862, 32202185, 21617753; Phenotypes: Cataract 19, multiple types, MIM# 615277; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4712 HCN1 Zornitza Stark Publications for gene: HCN1 were set to
Intellectual disability syndromic and non-syndromic v0.4711 HCN1 Zornitza Stark Mode of inheritance for gene: HCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4710 HCN1 Zornitza Stark reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747641, 30351409, 30351409; Phenotypes: Developmental and epileptic encephalopathy 24, MIM# 615871, Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1579 HCN1 Zornitza Stark Marked gene: HCN1 as ready
Genetic Epilepsy v0.1579 HCN1 Zornitza Stark Gene: hcn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1579 HCN1 Zornitza Stark Phenotypes for gene: HCN1 were changed from to Developmental and epileptic encephalopathy 24, MIM# 615871; Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482
Genetic Epilepsy v0.1578 HCN1 Zornitza Stark Publications for gene: HCN1 were set to
Genetic Epilepsy v0.1577 HCN1 Zornitza Stark Mode of inheritance for gene: HCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1576 HCN1 Zornitza Stark reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747641, 30351409, 30351409; Phenotypes: Developmental and epileptic encephalopathy 24, MIM# 615871, Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13574 HCN1 Zornitza Stark Marked gene: HCN1 as ready
Mendeliome v0.13574 HCN1 Zornitza Stark Gene: hcn1 has been classified as Green List (High Evidence).
Mendeliome v0.13574 HCN1 Zornitza Stark Phenotypes for gene: HCN1 were changed from to Developmental and epileptic encephalopathy 24, MIM# 615871; Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482
Mendeliome v0.13573 HCN1 Zornitza Stark Publications for gene: HCN1 were set to
Mendeliome v0.13572 HCN1 Zornitza Stark Mode of inheritance for gene: HCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13571 HCN1 Zornitza Stark reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747641, 30351409, 30351409; Phenotypes: Developmental and epileptic encephalopathy 24, MIM# 615871, Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13571 HCCS Zornitza Stark Marked gene: HCCS as ready
Mendeliome v0.13571 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Mendeliome v0.13571 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Mendeliome v0.13570 HCCS Zornitza Stark Publications for gene: HCCS were set to
Mendeliome v0.13569 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)
Mendeliome v0.13568 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)
Mendeliome v0.13568 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Mendeliome v0.13568 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Mendeliome v0.13568 HBA2 Zornitza Stark Phenotypes for gene: HBA2 were changed from to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131
Intellectual disability syndromic and non-syndromic v0.4710 MCCC2 Teresa Zhao reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34899149; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13567 HBA2 Zornitza Stark Mode of inheritance for gene: HBA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13566 HBA2 Zornitza Stark Tag SV/CNV tag was added to gene: HBA2.
Mendeliome v0.13566 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocytosis 7, MIM# 617981, Heinz body anaemia, MIM# 140700, Haemoglobin H disease, deletional and nondeletional, MIM# 613978, Thalassaemia, alpha-, MIM# 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13566 HBA1 Zornitza Stark edited their review of gene: HBA1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13566 HBA1 Zornitza Stark Mode of inheritance for gene: HBA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13565 HBA1 Zornitza Stark Tag SV/CNV tag was added to gene: HBA1.
Mendeliome v0.13565 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Mendeliome v0.13565 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Mendeliome v0.13565 HBA1 Zornitza Stark Phenotypes for gene: HBA1 were changed from to Erythrocytosis 7, MIM# 617981; Heinz body anemias, alpha-, MIM# 140700; Methemoglobinemia, alpha type , MIM#617973; Thalassemias, alpha-, MIM# 604131; Hemoglobin H disease, nondeletional, MIM# 613978
Mendeliome v0.13564 HBA1 Zornitza Stark Mode of inheritance for gene: HBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13563 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocytosis 7, MIM# 617981, Heinz body anemias, alpha-, MIM# 140700, Methemoglobinemia, alpha type , MIM#617973, Thalassemias, alpha-, MIM# 604131, Hemoglobin H disease, nondeletional, MIM# 613978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13563 HAO1 Zornitza Stark Marked gene: HAO1 as ready
Mendeliome v0.13563 HAO1 Zornitza Stark Gene: hao1 has been classified as Red List (Low Evidence).
Mendeliome v0.13563 HAO1 Zornitza Stark Classified gene: HAO1 as Red List (low evidence)
Mendeliome v0.13563 HAO1 Zornitza Stark Gene: hao1 has been classified as Red List (Low Evidence).
Mendeliome v0.13562 HAO1 Zornitza Stark reviewed gene: HAO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13562 HAMP Zornitza Stark Marked gene: HAMP as ready
Mendeliome v0.13562 HAMP Zornitza Stark Gene: hamp has been classified as Green List (High Evidence).
Mendeliome v0.13562 HAMP Zornitza Stark Phenotypes for gene: HAMP were changed from to Haemochromatosis, type 2B, MIM# 613313
Mendeliome v0.13561 HAMP Zornitza Stark Publications for gene: HAMP were set to
Mendeliome v0.13560 HAMP Zornitza Stark Mode of inheritance for gene: HAMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13559 HAMP Zornitza Stark reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12469120, 34828384, 15198949; Phenotypes: Haemochromatosis, type 2B, MIM# 613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13559 HADHB Zornitza Stark Marked gene: HADHB as ready
Mendeliome v0.13559 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Mendeliome v0.13559 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM# 609015
Mendeliome v0.13558 HADHB Zornitza Stark Publications for gene: HADHB were set to
Mendeliome v0.13557 HADHB Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13556 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30682426, 28515471; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13556 HADHA Zornitza Stark Marked gene: HADHA as ready
Mendeliome v0.13556 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Mendeliome v0.13556 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016; MONDO:0012173
Mendeliome v0.13555 HADHA Zornitza Stark Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13554 HADHA Zornitza Stark edited their review of gene: HADHA: Changed phenotypes: LCHAD deficiency, MIM# 609016, MONDO:0012173
Mendeliome v0.13554 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13554 HADH Zornitza Stark Marked gene: HADH as ready
Mendeliome v0.13554 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Mendeliome v0.13554 HADH Zornitza Stark Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
Mendeliome v0.13553 HADH Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13552 HADH Zornitza Stark reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13552 HACD1 Zornitza Stark Marked gene: HACD1 as ready
Mendeliome v0.13552 HACD1 Zornitza Stark Gene: hacd1 has been classified as Green List (High Evidence).
Mendeliome v0.13552 HACD1 Zornitza Stark Phenotypes for gene: HACD1 were changed from to Congenital myopathy, MONDO:0019952
Mendeliome v0.13551 HACD1 Zornitza Stark Publications for gene: HACD1 were set to
Mendeliome v0.13550 HACD1 Zornitza Stark Mode of inheritance for gene: HACD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13549 HACD1 Zornitza Stark reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15829503, 23933735, 32426512; Phenotypes: Congenital myopathy, MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13549 HAAO Zornitza Stark Marked gene: HAAO as ready
Mendeliome v0.13549 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Mendeliome v0.13549 HAAO Zornitza Stark Phenotypes for gene: HAAO were changed from to Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency
Mendeliome v0.13548 HAAO Zornitza Stark Publications for gene: HAAO were set to
Mendeliome v0.13547 HAAO Zornitza Stark Mode of inheritance for gene: HAAO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13546 H6PD Zornitza Stark Marked gene: H6PD as ready
Mendeliome v0.13546 H6PD Zornitza Stark Gene: h6pd has been classified as Green List (High Evidence).
Mendeliome v0.13546 H6PD Zornitza Stark Phenotypes for gene: H6PD were changed from to Cortisone reductase deficiency 1, MIM# 604931
Mendeliome v0.13545 H6PD Zornitza Stark Publications for gene: H6PD were set to
Mendeliome v0.13544 H6PD Zornitza Stark Mode of inheritance for gene: H6PD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13543 H6PD Zornitza Stark reviewed gene: H6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18628520; Phenotypes: Cortisone reductase deficiency 1, MIM# 604931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13543 SIK1 Samantha Ayres reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25839329, 27966542, 35267137; Phenotypes: Developmental and epileptic encephalopathy 30, MIM#616341, developmental and epileptic encephalopathy, MONDO#0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13543 BUD23 Zornitza Stark Marked gene: BUD23 as ready
Mendeliome v0.13543 BUD23 Zornitza Stark Gene: bud23 has been classified as Red List (Low Evidence).
Mendeliome v0.13543 BUD23 Zornitza Stark Classified gene: BUD23 as Red List (low evidence)
Mendeliome v0.13543 BUD23 Zornitza Stark Gene: bud23 has been classified as Red List (Low Evidence).
Mendeliome v0.13542 BUD23 Zornitza Stark reviewed gene: BUD23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13542 BTNL2 Zornitza Stark Marked gene: BTNL2 as ready
Mendeliome v0.13542 BTNL2 Zornitza Stark Gene: btnl2 has been classified as Red List (Low Evidence).
Mendeliome v0.13542 BTNL2 Zornitza Stark Phenotypes for gene: BTNL2 were changed from to {Sarcoidosis, susceptibility to, 2} 612387
Mendeliome v0.13541 BTNL2 Zornitza Stark Mode of inheritance for gene: BTNL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13540 BTNL2 Zornitza Stark Classified gene: BTNL2 as Red List (low evidence)
Mendeliome v0.13540 BTNL2 Zornitza Stark Gene: btnl2 has been classified as Red List (Low Evidence).
Mendeliome v0.13539 BTNL2 Zornitza Stark reviewed gene: BTNL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Sarcoidosis, susceptibility to, 2} 612387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13539 BTK Zornitza Stark Marked gene: BTK as ready
Mendeliome v0.13539 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Mendeliome v0.13539 BTK Zornitza Stark Phenotypes for gene: BTK were changed from to Agammaglobulinaemia, X-linked 1, MIM# 300755; Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Mendeliome v0.13538 BTK Zornitza Stark Publications for gene: BTK were set to
Mendeliome v0.13537 BTK Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13536 BTK Zornitza Stark commented on gene: BTK: Well established gene-disease association with agammaglobulinaemia, >100 families reported.

At least 3 families reported with GH deficiency plus agammaglobulinaemia.
Mendeliome v0.13536 BTK Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13536 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Mendeliome v0.13536 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Mendeliome v0.13536 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Mendeliome v0.13535 BRIP1 Zornitza Stark Publications for gene: BRIP1 were set to
Mendeliome v0.13534 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13533 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13533 BRAF Zornitza Stark Marked gene: BRAF as ready
Mendeliome v0.13533 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Mendeliome v0.13533 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
Mendeliome v0.13532 BRAF Zornitza Stark Publications for gene: BRAF were set to
Mendeliome v0.13531 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.13530 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13529 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19206169, 18042262; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13529 BPGM Zornitza Stark Marked gene: BPGM as ready
Mendeliome v0.13529 BPGM Zornitza Stark Gene: bpgm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13529 BPGM Zornitza Stark Phenotypes for gene: BPGM were changed from to Erythrocytosis, familial, 8, MIM# 222800
Mendeliome v0.13528 BPGM Zornitza Stark Publications for gene: BPGM were set to
Mendeliome v0.13527 BPGM Zornitza Stark Mode of inheritance for gene: BPGM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13526 BPGM Zornitza Stark Classified gene: BPGM as Amber List (moderate evidence)
Mendeliome v0.13526 BPGM Zornitza Stark Gene: bpgm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13525 BPGM Zornitza Stark reviewed gene: BPGM: Rating: AMBER; Mode of pathogenicity: None; Publications: 1421379, 27651169, 25015942; Phenotypes: Erythrocytosis, familial, 8, MIM# 222800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13525 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Mendeliome v0.13525 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Mendeliome v0.13525 BMPR1A Zornitza Stark Phenotypes for gene: BMPR1A were changed from to Polyposis, juvenile intestinal, MIM# 174900
Mendeliome v0.13524 BMPR1A Zornitza Stark Publications for gene: BMPR1A were set to
Mendeliome v0.13523 BMPR1A Zornitza Stark Mode of inheritance for gene: BMPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13522 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381269; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13522 BLVRA Zornitza Stark Marked gene: BLVRA as ready
Mendeliome v0.13522 BLVRA Zornitza Stark Gene: blvra has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13522 BLVRA Zornitza Stark Phenotypes for gene: BLVRA were changed from to Hyperbiliverdinaemia , MIM#614156
Mendeliome v0.13521 BLVRA Zornitza Stark Publications for gene: BLVRA were set to
Mendeliome v0.13520 BLVRA Zornitza Stark Mode of inheritance for gene: BLVRA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13519 BLVRA Zornitza Stark Classified gene: BLVRA as Amber List (moderate evidence)
Mendeliome v0.13519 BLVRA Zornitza Stark Gene: blvra has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13518 BLVRA Zornitza Stark reviewed gene: BLVRA: Rating: AMBER; Mode of pathogenicity: None; Publications: 19580635, 21278388; Phenotypes: Hyperbiliverdinaemia , MIM#614156; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13518 BLK Zornitza Stark Marked gene: BLK as ready
Mendeliome v0.13518 BLK Zornitza Stark Gene: blk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13518 BLK Zornitza Stark Phenotypes for gene: BLK were changed from to Common variable immunodeficiency, MONDO:0015517
Mendeliome v0.13517 BLK Zornitza Stark Publications for gene: BLK were set to
Mendeliome v0.13516 BLK Zornitza Stark Mode of inheritance for gene: BLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13515 BLK Zornitza Stark Classified gene: BLK as Amber List (moderate evidence)
Mendeliome v0.13515 BLK Zornitza Stark Gene: blk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13514 BLK Zornitza Stark reviewed gene: BLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25926555; Phenotypes: Common variable immunodeficiency, MONDO:0015517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13514 BHLHE41 Zornitza Stark Marked gene: BHLHE41 as ready
Mendeliome v0.13514 BHLHE41 Zornitza Stark Gene: bhlhe41 has been classified as Red List (Low Evidence).
Mendeliome v0.13514 BHLHE41 Zornitza Stark Phenotypes for gene: BHLHE41 were changed from to [Short sleep, familial natural, 1] 612975
Mendeliome v0.13513 BHLHE41 Zornitza Stark Mode of inheritance for gene: BHLHE41 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13512 BHLHE41 Zornitza Stark Classified gene: BHLHE41 as Red List (low evidence)
Mendeliome v0.13512 BHLHE41 Zornitza Stark Gene: bhlhe41 has been classified as Red List (Low Evidence).
Mendeliome v0.13511 BHLHE41 Zornitza Stark reviewed gene: BHLHE41: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Short sleep, familial natural, 1] 612975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13511 BFSP1 Zornitza Stark Marked gene: BFSP1 as ready
Mendeliome v0.13511 BFSP1 Zornitza Stark Gene: bfsp1 has been classified as Green List (High Evidence).
Mendeliome v0.13511 BFSP1 Zornitza Stark Phenotypes for gene: BFSP1 were changed from to Cataract 33, multiple types, MIM# 611391
Cataract v0.330 BFSP1 Zornitza Stark Marked gene: BFSP1 as ready
Cataract v0.330 BFSP1 Zornitza Stark Gene: bfsp1 has been classified as Green List (High Evidence).
Cataract v0.330 BFSP1 Zornitza Stark Phenotypes for gene: BFSP1 were changed from to Cataract 33, multiple types, MIM# 611391
Cataract v0.329 BFSP1 Zornitza Stark Publications for gene: BFSP1 were set to
Cataract v0.328 BFSP1 Zornitza Stark Mode of inheritance for gene: BFSP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.327 BFSP1 Zornitza Stark reviewed gene: BFSP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17225135, 26694549, 24379646, 28450710, 31842807, 26694549; Phenotypes: Cataract 33, multiple types, MIM# 611391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13510 BFSP1 Zornitza Stark Publications for gene: BFSP1 were set to
Mendeliome v0.13509 BFSP1 Zornitza Stark Mode of inheritance for gene: BFSP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13508 BFSP1 Zornitza Stark reviewed gene: BFSP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17225135, 26694549, 24379646, 28450710, 31842807, 26694549; Phenotypes: Cataract 33, multiple types, MIM# 611391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13508 BCL2 Zornitza Stark Marked gene: BCL2 as ready
Mendeliome v0.13508 BCL2 Zornitza Stark Gene: bcl2 has been classified as Red List (Low Evidence).
Mendeliome v0.13508 BCL2 Zornitza Stark Classified gene: BCL2 as Red List (low evidence)
Mendeliome v0.13508 BCL2 Zornitza Stark Gene: bcl2 has been classified as Red List (Low Evidence).
Mendeliome v0.13507 BCL2 Zornitza Stark reviewed gene: BCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13507 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Mendeliome v0.13507 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Mendeliome v0.13507 BCKDK Zornitza Stark Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; disorder of branched-chain amino acid metabolism
Mendeliome v0.13506 BCKDK Zornitza Stark Publications for gene: BCKDK were set to
Mendeliome v0.13505 BCKDK Zornitza Stark Mode of inheritance for gene: BCKDK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13504 BCL10 Zornitza Stark Marked gene: BCL10 as ready
Mendeliome v0.13504 BCL10 Zornitza Stark Gene: bcl10 has been classified as Green List (High Evidence).
Mendeliome v0.13504 BCL10 Zornitza Stark Phenotypes for gene: BCL10 were changed from to Immunodeficiency 37, MIM# 616098
Mendeliome v0.13503 BCL10 Zornitza Stark Publications for gene: BCL10 were set to
Mendeliome v0.13502 BCL10 Zornitza Stark Mode of inheritance for gene: BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13501 BCHE Zornitza Stark Marked gene: BCHE as ready
Mendeliome v0.13501 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
Mendeliome v0.13501 BCHE Zornitza Stark Phenotypes for gene: BCHE were changed from to Butyrylcholinesterase deficiency, MIM# 617936
Mendeliome v0.13500 BCHE Zornitza Stark Mode of inheritance for gene: BCHE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13499 BCHE Zornitza Stark reviewed gene: BCHE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13499 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Mendeliome v0.13499 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Mendeliome v0.13499 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981; Retinitis pigmentosa 74, MIM# 616562
Mendeliome v0.13498 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Mendeliome v0.13497 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13496 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Mendeliome v0.13496 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Mendeliome v0.13496 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Mendeliome v0.13495 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Mendeliome v0.13494 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13493 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Mendeliome v0.13493 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Mendeliome v0.13493 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Mendeliome v0.13492 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Mendeliome v0.13491 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13490 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Mendeliome v0.13490 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Mendeliome v0.13490 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Mendeliome v0.13489 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Mendeliome v0.13488 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13487 BAG3 Zornitza Stark Marked gene: BAG3 as ready
Mendeliome v0.13487 BAG3 Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence).
Mendeliome v0.13487 BAG3 Zornitza Stark Phenotypes for gene: BAG3 were changed from to Cardiomyopathy, dilated, 1HH, MIM# 613881; Myopathy, myofibrillar, 6, MIM# 612954
Mendeliome v0.13486 BAG3 Zornitza Stark Publications for gene: BAG3 were set to
Mendeliome v0.13485 BAG3 Zornitza Stark Mode of inheritance for gene: BAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13484 BAG3 Zornitza Stark reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353195, 25008357, 25448463, 24623017, 27391596, 28211974, 30442290, 31983221, 28737513, 29323723, 33947203, 25208129, 32453099, 22734908; Phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881, Myopathy, myofibrillar, 6, MIM# 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13484 BACH2 Zornitza Stark Deleted their comment
Mendeliome v0.13484 BACH2 Zornitza Stark commented on gene: BACH2: Two families and a mouse model.
Mendeliome v0.13484 BACH2 Zornitza Stark Marked gene: BACH2 as ready
Mendeliome v0.13484 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Mendeliome v0.13484 BACH2 Zornitza Stark Phenotypes for gene: BACH2 were changed from to Immunodeficiency 60 and autoimmunity, MIM# 618394
Mendeliome v0.13483 BACH2 Zornitza Stark Publications for gene: BACH2 were set to
Mendeliome v0.13482 BACH2 Zornitza Stark Mode of inheritance for gene: BACH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13481 BACH2 Zornitza Stark reviewed gene: BACH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28530713; Phenotypes: Immunodeficiency 60 and autoimmunity, MIM# 618394; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13481 B4GALT1 Zornitza Stark Marked gene: B4GALT1 as ready
Mendeliome v0.13481 B4GALT1 Zornitza Stark Gene: b4galt1 has been classified as Green List (High Evidence).
Mendeliome v0.13481 B4GALT1 Zornitza Stark Phenotypes for gene: B4GALT1 were changed from to Congenital disorder of glycosylation, type Iid, MIM#607091
Mendeliome v0.13480 B4GALT1 Zornitza Stark Publications for gene: B4GALT1 were set to
Mendeliome v0.13479 B4GALT1 Zornitza Stark Mode of inheritance for gene: B4GALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13478 B4GALT1 Zornitza Stark changed review comment from: Intellectual disability is part of CDG, although non-neurological forms of this CDG have been described.
Sources: Expert list; to: At least 3 unrelated families.
Sources: Expert list
Mendeliome v0.13478 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Mendeliome v0.13478 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Green List (High Evidence).
Mendeliome v0.13478 B4GALNT1 Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive (MIM #609195)
Mendeliome v0.13477 B4GALNT1 Zornitza Stark Publications for gene: B4GALNT1 were set to 23746551 24103911
Mendeliome v0.13476 B4GALNT1 Zornitza Stark Publications for gene: B4GALNT1 were set to
Mendeliome v0.13475 B4GALNT1 Zornitza Stark Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13474 B4GALNT1 Zornitza Stark reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551 24103911; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13474 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Mendeliome v0.13474 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Mendeliome v0.13474 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from to Peters-plus syndrome, MIM#261540
Mendeliome v0.13473 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Mendeliome v0.13472 B3GLCT Zornitza Stark Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13471 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
Mendeliome v0.13471 APOA5 Zornitza Stark Marked gene: APOA5 as ready
Mendeliome v0.13471 APOA5 Zornitza Stark Gene: apoa5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4710 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Intellectual disability syndromic and non-syndromic v0.4710 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4710 AP1S2 Zornitza Stark Phenotypes for gene: AP1S2 were changed from to Pettigrew syndrome, MIM# 304340
Intellectual disability syndromic and non-syndromic v0.4709 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Intellectual disability syndromic and non-syndromic v0.4708 AP1S2 Zornitza Stark Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4707 AP1S2 Zornitza Stark reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186471, 17617514, 19377476, 30714330, 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13471 AP1S2 Zornitza Stark Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM#304340 to Pettigrew syndrome, MIM# 304340
Mendeliome v0.13470 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Mendeliome v0.13469 AP1S2 Zornitza Stark reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186471, 17617514, 19377476, 30714330, 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13469 APCDD1 Zornitza Stark Marked gene: APCDD1 as ready
Mendeliome v0.13469 APCDD1 Zornitza Stark Gene: apcdd1 has been classified as Green List (High Evidence).
Mendeliome v0.13469 APCDD1 Zornitza Stark Phenotypes for gene: APCDD1 were changed from to Hypotrichosis 1, MIM#605389
Mendeliome v0.13468 APCDD1 Zornitza Stark Publications for gene: APCDD1 were set to
Mendeliome v0.13467 APCDD1 Zornitza Stark Mode of inheritance for gene: APCDD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13466 APCDD1 Zornitza Stark reviewed gene: APCDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 1, MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13466 ANO10 Zornitza Stark Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10, MIM#613728
Mendeliome v0.13465 ANO10 Zornitza Stark Publications for gene: ANO10 were set to
Mendeliome v0.13464 ANO10 Zornitza Stark reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092923, 25182700; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM#613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13464 PHOX2B Zornitza Stark Marked gene: PHOX2B as ready
Mendeliome v0.13464 PHOX2B Zornitza Stark Gene: phox2b has been classified as Green List (High Evidence).
Mendeliome v0.13464 PHOX2B Zornitza Stark Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880; Neuroblastoma with Hirschsprung disease - MIM#613013
Mendeliome v0.13463 PHOX2B Zornitza Stark Publications for gene: PHOX2B were set to
Mendeliome v0.13462 PHOX2B Zornitza Stark Mode of inheritance for gene: PHOX2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13461 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Mendeliome v0.13461 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Mendeliome v0.13461 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872; Peroxisome biogenesis disorder 7B - MIM#614873
Mendeliome v0.13460 PEX26 Zornitza Stark Publications for gene: PEX26 were set to
Mendeliome v0.13459 PEX26 Zornitza Stark Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13458 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Mendeliome v0.13458 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Mendeliome v0.13458 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from to Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866; Peroxisome biogenesis disorder 5B - MIM#614867
Mendeliome v0.13457 PEX2 Zornitza Stark Publications for gene: PEX2 were set to
Mendeliome v0.13456 PEX2 Zornitza Stark Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13455 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Mendeliome v0.13455 PEX19 Zornitza Stark Gene: pex19 has been classified as Green List (High Evidence).
Mendeliome v0.13455 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Mendeliome v0.13454 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Mendeliome v0.13454 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Mendeliome v0.13454 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876; Peroxisome biogenesis disorder 8B - MIM#614877
Mendeliome v0.13453 PEX16 Zornitza Stark Publications for gene: PEX16 were set to
Mendeliome v0.13452 PEX16 Zornitza Stark Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13451 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Mendeliome v0.13451 PEX14 Zornitza Stark Gene: pex14 has been classified as Green List (High Evidence).
Mendeliome v0.13451 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887
Mendeliome v0.13450 PEX14 Zornitza Stark Publications for gene: PEX14 were set to
Mendeliome v0.13449 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13448 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Mendeliome v0.13448 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Mendeliome v0.13448 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger) - MIM#614883; Peroxisome biogenesis disorder 11B - MIM#614885
Mendeliome v0.13447 PEX13 Zornitza Stark Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13446 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Mendeliome v0.13446 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Mendeliome v0.13446 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Peroxisome biogenesis disorder 3B - MIM#266510
Mendeliome v0.13445 PEX12 Zornitza Stark Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13444 ENTPD1 Zornitza Stark Publications for gene: ENTPD1 were set to 24482476; 30652007
Mendeliome v0.13443 ENTPD1 Zornitza Stark commented on gene: ENTPD1: PMID 35471564: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia.
Mendeliome v0.13443 ENTPD1 Zornitza Stark edited their review of gene: ENTPD1: Changed publications: 24482476, 30652007, 35471564
Leukodystrophy v0.263 ENTPD1 Zornitza Stark Marked gene: ENTPD1 as ready
Leukodystrophy v0.263 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Leukodystrophy v0.263 ENTPD1 Zornitza Stark Classified gene: ENTPD1 as Green List (high evidence)
Leukodystrophy v0.263 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Leukodystrophy v0.262 ENTPD1 Zornitza Stark gene: ENTPD1 was added
gene: ENTPD1 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENTPD1 were set to 35471564
Phenotypes for gene: ENTPD1 were set to Spastic paraplegia 64, autosomal recessive, MIM# 615683
Review for gene: ENTPD1 was set to GREEN
Added comment: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4707 ENTPD1 Zornitza Stark Marked gene: ENTPD1 as ready
Intellectual disability syndromic and non-syndromic v0.4707 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4707 ENTPD1 Zornitza Stark Classified gene: ENTPD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4707 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4706 ENTPD1 Zornitza Stark gene: ENTPD1 was added
gene: ENTPD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENTPD1 were set to 35471564
Phenotypes for gene: ENTPD1 were set to Spastic paraplegia 64, autosomal recessive, MIM# 615683
Review for gene: ENTPD1 was set to GREEN
Added comment: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia.
Sources: Literature
Hereditary Spastic Paraplegia v1.26 ENTPD1 Zornitza Stark Publications for gene: ENTPD1 were set to 24482476; 30652007
Mendeliome v0.13443 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Mendeliome v0.13443 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Green List (High Evidence).
Mendeliome v0.13443 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 MIM#615481
Mendeliome v0.13442 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Mendeliome v0.13441 RSPH1 Zornitza Stark Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.124 CNGB1 Zornitza Stark Marked gene: CNGB1 as ready
Retinitis pigmentosa v0.124 CNGB1 Zornitza Stark Gene: cngb1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.124 CNGB1 Zornitza Stark Phenotypes for gene: CNGB1 were changed from Retinitis pigmentosa 45, 613767 to Retinitis pigmentosa 45, MIM#613767
Retinitis pigmentosa v0.123 CNGB1 Zornitza Stark Publications for gene: CNGB1 were set to
Retinitis pigmentosa v0.122 CNGB1 Zornitza Stark reviewed gene: CNGB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11379879, 15557452, 23661369, 33847019; Phenotypes: Retinitis pigmentosa 45 MIM#613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.122 CNGA1 Zornitza Stark Marked gene: CNGA1 as ready
Retinitis pigmentosa v0.122 CNGA1 Zornitza Stark Gene: cnga1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.122 CNGA1 Zornitza Stark Mode of inheritance for gene: CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.121 CNGA1 Zornitza Stark Publications for gene: CNGA1 were set to
Retinitis pigmentosa v0.120 CNGA1 Zornitza Stark reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633220, 32705276, 30652268, 20301590, 7479749; Phenotypes: Retinitis pigmentosa 49 MIM#613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13440 CLEC7A Zornitza Stark Mode of inheritance for gene: CLEC7A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13439 APOA5 Elena Savva Mode of inheritance for gene: APOA5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13438 APOA5 Elena Savva Phenotypes for gene: APOA5 were changed from to Hyperchylomicronemia, late-onset MIM#144650; {Hypertriglyceridemia, susceptibility to} MIM#145750
Mendeliome v0.13438 APOA5 Elena Savva Publications for gene: APOA5 were set to PMID: 19447388; 16200213; 11588264
Mendeliome v0.13438 APOA5 Elena Savva Publications for gene: APOA5 were set to
Mendeliome v0.13438 APOA5 Elena Savva Mode of inheritance for gene: APOA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13437 APOA5 Elena Savva reviewed gene: APOA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19447388, 16200213, 11588264; Phenotypes: Hyperchylomicronemia, late-onset MIM#144650, {Hypertriglyceridemia, susceptibility to} MIM#145750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13437 APOA2 Elena Savva Marked gene: APOA2 as ready
Mendeliome v0.13437 APOA2 Elena Savva Gene: apoa2 has been classified as Red List (Low Evidence).
Mendeliome v0.13437 APOA2 Elena Savva Phenotypes for gene: APOA2 were changed from to Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890
Mendeliome v0.13437 APOA2 Elena Savva Publications for gene: APOA2 were set to
Mendeliome v0.13436 APOA2 Elena Savva Mode of inheritance for gene: APOA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13436 APOA2 Elena Savva Classified gene: APOA2 as Red List (low evidence)
Mendeliome v0.13436 APOA2 Elena Savva Gene: apoa2 has been classified as Red List (Low Evidence).
Mendeliome v0.13435 APOA2 Elena Savva reviewed gene: APOA2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12522687, 2107739, 25904114; Phenotypes: Apolipoprotein A-II deficiency, {Hypercholesterolemia, familial, modifier of} MIM#143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13435 APOA1 Elena Savva Marked gene: APOA1 as ready
Mendeliome v0.13435 APOA1 Elena Savva Gene: apoa1 has been classified as Green List (High Evidence).
Mendeliome v0.13435 APOA1 Elena Savva Phenotypes for gene: APOA1 were changed from to Amyloidosis, 3 or more types MIM#105200; Hypoalphalipoproteinemia, primary, 2 MIM#618463; Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836
Mendeliome v0.13435 APOA1 Elena Savva Mode of inheritance for gene: APOA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13434 APOA1 Elena Savva reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, 3 or more types MIM#105200, Hypoalphalipoproteinemia, primary, 2 MIM#618463, Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13434 AP1S2 Elena Savva Marked gene: AP1S2 as ready
Mendeliome v0.13434 AP1S2 Elena Savva Gene: ap1s2 has been classified as Green List (High Evidence).
Mendeliome v0.13434 AP1S2 Elena Savva Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, MIM#304340
Mendeliome v0.13433 AP1S2 Elena Savva Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hair disorders v0.61 APCDD1 Elena Savva reviewed gene: APCDD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22512811; Phenotypes: Hypotrichosis 1 MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13432 APCDD1 Elena Savva reviewed gene: APCDD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22512811; Phenotypes: Hypotrichosis 1 MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13432 ANO10 Elena Savva Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Mendeliome v0.13431 ANO10 Elena Savva Mode of pathogenicity for gene: ANO10 was changed from to None
Mendeliome v0.13430 ANO10 Elena Savva Phenotypes for gene: ANO10 were changed from to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Mendeliome v0.13430 ANO10 Elena Savva Marked gene: ANO10 as ready
Mendeliome v0.13430 ANO10 Elena Savva Gene: ano10 has been classified as Green List (High Evidence).
Mendeliome v0.13430 ANO10 Elena Savva Mode of inheritance for gene: ANO10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PHOX2B Krithika Murali reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444792; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880, Neuroblastoma with Hirschsprung disease - MIM#613013; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13429 PEX26 Krithika Murali reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, Peroxisome biogenesis disorder 7B - MIM#614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX2 Krithika Murali reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14630978, 10528859, 23430938, 1546315; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866, Peroxisome biogenesis disorder 5B - MIM#614867; Mode of inheritance: None
Mendeliome v0.13429 PEX19 Krithika Murali reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051604, 20683989, 11883941, 28391327; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX16 Krithika Murali reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 20647552, 12223482, 9837814, 11890679; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876, Peroxisome biogenesis disorder 8B - MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX14 Krithika Murali reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285423, 26627464, 21686775, 15146459; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX13 Krithika Murali reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) - MIM#614883, Peroxisome biogenesis disorder 11B - MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX12 Krithika Murali reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859, Peroxisome biogenesis disorder 3B - MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.125 ETFDH Bryony Thompson Marked gene: ETFDH as ready
Hereditary Neuropathy v0.125 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.125 ETFDH Bryony Thompson Classified gene: ETFDH as Green List (high evidence)
Hereditary Neuropathy v0.125 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.124 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 32608139; 35309592; 26821934
Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; sensory neuropathy
Review for gene: ETFDH was set to GREEN
gene: ETFDH was marked as current diagnostic
Added comment: Sensory neuropathy can be a feature of the condition. >10 cases with biallelic variants has been reported with sensory neuropathy confirmed with nerve conduction studies.
Sources: Literature
Mendeliome v0.13429 DIO1 Zornitza Stark Marked gene: DIO1 as ready
Mendeliome v0.13429 DIO1 Zornitza Stark Gene: dio1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13429 DIO1 Zornitza Stark Phenotypes for gene: DIO1 were changed from to Thyroid hormone metabolism, abnormal, 2, MIM# 619855
Mendeliome v0.13428 DIO1 Zornitza Stark Mode of inheritance for gene: DIO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13427 DIO1 Zornitza Stark Classified gene: DIO1 as Amber List (moderate evidence)
Mendeliome v0.13427 DIO1 Zornitza Stark Gene: dio1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13426 DIO1 Zornitza Stark reviewed gene: DIO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, 2, MIM# 619855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.11 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Bleeding and Platelet Disorders v1.11 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.11 TUBA8 Zornitza Stark Classified gene: TUBA8 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v1.11 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.10 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA8 were set to 34704371
Phenotypes for gene: TUBA8 were set to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840
Review for gene: TUBA8 was set to AMBER
Added comment: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic, one had menorrhagia.
Sources: Expert list
Mendeliome v0.13426 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840
Mendeliome v0.13425 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to 19896110; 31481326; 28388629
Mendeliome v0.13424 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13423 TUBA8 Zornitza Stark Classified gene: TUBA8 as Amber List (moderate evidence)
Mendeliome v0.13423 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13422 TUBA8 Zornitza Stark changed review comment from: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).; to: Bi-allelic variants and cortical dysplasia: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).
Mendeliome v0.13422 TUBA8 Zornitza Stark edited their review of gene: TUBA8: Added comment: Mono-allelic variants and macrothrombocytopaenia: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic.; Changed rating: AMBER; Changed publications: 34704371; Changed phenotypes: Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4705 NRCAM Zornitza Stark Phenotypes for gene: NRCAM were changed from Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833
Intellectual disability syndromic and non-syndromic v0.4705 NRCAM Zornitza Stark Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833
Intellectual disability syndromic and non-syndromic v0.4704 NRCAM Zornitza Stark reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13422 NRCAM Zornitza Stark Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, NRCAM-related, MONDO:0700092 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833
Mendeliome v0.13421 NRCAM Zornitza Stark reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4704 CDC42BPB Zornitza Stark Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841
Intellectual disability syndromic and non-syndromic v0.4703 CDC42BPB Zornitza Stark reviewed gene: CDC42BPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1576 CDC42BPB Zornitza Stark Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841
Genetic Epilepsy v0.1575 CDC42BPB Zornitza Stark edited their review of gene: CDC42BPB: Changed rating: AMBER; Changed phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13421 CDC42BPB Zornitza Stark Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841
Mendeliome v0.13420 CDC42BPB Zornitza Stark edited their review of gene: CDC42BPB: Changed phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841
Hereditary Spastic Paraplegia v1.25 ENTPD1 Shekeeb Mohammad reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35471564; Phenotypes: spastic paraplegia, intellectual disability, white matter abnormalities on MRI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13420 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Mendeliome v0.13420 PEX3 Zornitza Stark Gene: pex3 has been classified as Green List (High Evidence).
Mendeliome v0.13420 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370
Mendeliome v0.13419 PEX3 Zornitza Stark Publications for gene: PEX3 were set to
Mendeliome v0.13418 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13417 PEX3 Zornitza Stark reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942428, 10958759, 10968777, 27557811, 33101983; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882, Peroxisome biogenesis disorder 10B , MIM# 617370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.39 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Peroxisomal Disorders v0.39 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.39 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716
Peroxisomal Disorders v0.38 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Peroxisomal Disorders v0.37 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.36 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13417 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Mendeliome v0.13417 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Mendeliome v0.13417 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716
Mendeliome v0.13416 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Mendeliome v0.13415 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13414 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.36 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Peroxisomal Disorders v0.36 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.36 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Peroxisomal Disorders v0.35 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Peroxisomal Disorders v0.34 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.33 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 11781871, 12522768, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13414 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Mendeliome v0.13414 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Mendeliome v0.13414 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Mendeliome v0.13413 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Mendeliome v0.13412 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13411 PEX7 Zornitza Stark Deleted their comment
Mendeliome v0.13411 PEX7 Zornitza Stark edited their review of gene: PEX7: Added comment: Well established gene-disease associations.; Changed publications: 11781871, 12522768, 12325024; Changed phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Mendeliome v0.13411 PFKM Zornitza Stark Marked gene: PFKM as ready
Mendeliome v0.13411 PFKM Zornitza Stark Gene: pfkm has been classified as Green List (High Evidence).
Mendeliome v0.13411 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from to Glycogen storage disease VII, MIM# 232800
Mendeliome v0.13410 PFKM Zornitza Stark Publications for gene: PFKM were set to
Mendeliome v0.13409 PFKM Zornitza Stark Mode of inheritance for gene: PFKM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13408 PFKM Zornitza Stark reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 2140573, 8444874, 7513946, 7550225; Phenotypes: Glycogen storage disease VII, MIM# 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13408 PGAM2 Zornitza Stark Marked gene: PGAM2 as ready
Mendeliome v0.13408 PGAM2 Zornitza Stark Gene: pgam2 has been classified as Green List (High Evidence).
Mendeliome v0.13408 PGAM2 Zornitza Stark Phenotypes for gene: PGAM2 were changed from to Glycogen storage disease X, MIM# 261670
Mendeliome v0.13407 PGAM2 Zornitza Stark Publications for gene: PGAM2 were set to
Mendeliome v0.13406 PGAM2 Zornitza Stark Mode of inheritance for gene: PGAM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13405 PGAM2 Zornitza Stark reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8447317, 34237446, 30310767; Phenotypes: Glycogen storage disease X, MIM# 261670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13405 PHF11 Zornitza Stark Marked gene: PHF11 as ready
Mendeliome v0.13405 PHF11 Zornitza Stark Gene: phf11 has been classified as Red List (Low Evidence).
Mendeliome v0.13405 PHF11 Zornitza Stark Classified gene: PHF11 as Red List (low evidence)
Mendeliome v0.13405 PHF11 Zornitza Stark Gene: phf11 has been classified as Red List (Low Evidence).
Mendeliome v0.13404 PHF11 Zornitza Stark reviewed gene: PHF11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13404 PHIP Zornitza Stark Marked gene: PHIP as ready
Mendeliome v0.13404 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Mendeliome v0.13404 PHIP Zornitza Stark Phenotypes for gene: PHIP were changed from to Chung-Jansen syndrome, MIM# 617991
Mendeliome v0.13403 PHIP Zornitza Stark Publications for gene: PHIP were set to
Mendeliome v0.13402 PHIP Zornitza Stark Mode of inheritance for gene: PHIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13401 PHIP Zornitza Stark changed review comment from: Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity.

More than 20 individuals reported.; to: Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioural abnormalities, dysmorphic features, and obesity.

More than 20 individuals reported.
Mendeliome v0.13401 PHIP Zornitza Stark reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 27900362, 29209020]; Phenotypes: Chung-Jansen syndrome, MIM# 617991; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13401 PHKA2 Zornitza Stark Marked gene: PHKA2 as ready
Mendeliome v0.13401 PHKA2 Zornitza Stark Gene: phka2 has been classified as Green List (High Evidence).
Mendeliome v0.13401 PHKA2 Zornitza Stark Phenotypes for gene: PHKA2 were changed from to Glycogen storage disease, type IXa1 and a2, MIM# 306000
Mendeliome v0.13400 PHKA2 Zornitza Stark Publications for gene: PHKA2 were set to
Mendeliome v0.13399 PHKA2 Zornitza Stark Mode of inheritance for gene: PHKA2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13398 PHKA2 Zornitza Stark edited their review of gene: PHKA2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13398 PHKA2 Zornitza Stark reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7711737, 7847371, 8733134; Phenotypes: Glycogen storage disease, type IXa1 and a2, MIM# 306000; Mode of inheritance: None
Mendeliome v0.13398 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Mendeliome v0.13398 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Mendeliome v0.13398 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501; CLAPO syndrome, somatic, MIM# 613089; CLOVE syndrome, somatic, MIM# 612918
Mendeliome v0.13397 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13396 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501, CLAPO syndrome, somatic, MIM# 613089, CLOVE syndrome, somatic, MIM# 612918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13396 PISD Zornitza Stark Phenotypes for gene: PISD were changed from to Liberfarb syndrome, MIM# 618889; Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities
Mendeliome v0.13395 PISD Zornitza Stark Publications for gene: PISD were set to
Mendeliome v0.13394 PISD Zornitza Stark Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13393 PISD Zornitza Stark edited their review of gene: PISD: Changed phenotypes: Liberfarb syndrome, MIM# 618889, Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities
Peroxisomal Disorders v0.33 PHYH Zornitza Stark Marked gene: PHYH as ready
Peroxisomal Disorders v0.33 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.33 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from to Refsum disease, MIM# 266500
Peroxisomal Disorders v0.32 PHYH Zornitza Stark Publications for gene: PHYH were set to
Peroxisomal Disorders v0.31 PHYH Zornitza Stark Mode of inheritance for gene: PHYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.30 PHYH Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326939, 9326940; Phenotypes: Refsum disease, MIM# 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13393 PHYH Zornitza Stark Marked gene: PHYH as ready
Mendeliome v0.13393 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Mendeliome v0.13393 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from to Refsum disease, MIM# 266500
Mendeliome v0.13392 PHYH Zornitza Stark Publications for gene: PHYH were set to
Mendeliome v0.13391 PHYH Zornitza Stark Mode of inheritance for gene: PHYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13390 PHYH Zornitza Stark Deleted their comment
Mendeliome v0.13390 PHYH Zornitza Stark edited their review of gene: PHYH: Added comment: Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells.

Well established gene-disease association.; Changed publications: 9326939, 9326940
Mendeliome v0.13390 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Mendeliome v0.13390 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Mendeliome v0.13390 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Mendeliome v0.13389 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Mendeliome v0.13388 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.340 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146) to Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Arthrogryposis v0.339 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to 30941898
Mendeliome v0.13387 PIEZO2 Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.; to: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.
Marden-Walker: 2 families reported.
Arthrogryposis v0.338 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.337 PIEZO2 Zornitza Stark commented on gene: PIEZO2: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.
Arthrogryposis v0.337 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27607563, 27843126, 27974811, 24726473; Phenotypes: Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145), Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13387 PIEZO2 Zornitza Stark edited their review of gene: PIEZO2: Changed phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145), Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Mendeliome v0.13387 PIEZO2 Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.; to: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.
Mendeliome v0.13387 PIEZO2 Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA3, more than 20 families reported.; to: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
Mendeliome v0.13387 PIEZO2 Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.; to: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA3, more than 20 families reported.
Mendeliome v0.13387 PIEZO2 Zornitza Stark edited their review of gene: PIEZO2: Changed publications: 27653382, 27607563, 27843126, 27974811, 24726473
Mendeliome v0.13387 RSPH1 Belinda Chong reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 MIM#615481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13387 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27607563, 27843126, 27974811; Phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1575 BSCL2 Zornitza Stark changed review comment from: Bi-allelic variants: multiple families reported with syndromic lipodystrophy including EE.

Mono-allelic variants: Two families reported with de novo variants in PMIDs 31369919 and 35290466. We are aware of further three individuals identified as a result of clinical testing, so a total of 4 with a change at position p.Pro149; to: Bi-allelic variants: multiple families reported with syndromic lipodystrophy including EE.

Mono-allelic variants: Two families reported with de novo variants in PMIDs 31369919 and 35290466. We are aware of further three individuals identified as a result of clinical testing, so a total of 4 with a change at position p.Pro149
Genetic Epilepsy v0.1575 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Genetic Epilepsy v0.1575 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1575 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from to Encephalopathy, progressive, with or without lipodystrophy, MIM#615924; Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062
Genetic Epilepsy v0.1574 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to
Genetic Epilepsy v0.1573 BSCL2 Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1572 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479539, 15181077, 15126564, 23564749, 31369919, 35290466; Phenotypes: Encephalopathy, progressive, with or without lipodystrophy, MIM#615924, Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13387 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Mendeliome v0.13387 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Mendeliome v0.13387 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from to Neuropathy, distal hereditary motor, type VC, MIM# 619112; Encephalopathy, progressive, with or without lipodystrophy, MIM#615924; Lipodystrophy, congenital generalized, type 2, MIM# 269700; Silver spastic paraplegia syndrome, MIM# 270685; Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062
Mendeliome v0.13386 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to
Mendeliome v0.13385 BSCL2 Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13384 BSCL2 Zornitza Stark edited their review of gene: BSCL2: Added comment: Multiple families reported with bi-allelic variants and isolated or syndromic lipodystrophy.

Mono-allelic variants and DEE: Two families reported with de novo variants in PMIDs 31369919 and 35290466. We are aware of further three individuals identified as a result of clinical testing, so a total of 4 with a change at position p.Pro149; Changed publications: 14981520, 15732094, 11479539, 15181077, 15126564, 23564749, 31369919, 35290466
Mendeliome v0.13384 BSCL2 Zornitza Stark edited their review of gene: BSCL2: Changed phenotypes: Neuropathy, distal hereditary motor, type VC, MIM# 619112, Encephalopathy, progressive, with or without lipodystrophy, MIM#615924, Lipodystrophy, congenital generalized, type 2, MIM# 269700, Silver spastic paraplegia syndrome, MIM# 270685, Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1572 CNNM2 Ain Roesley Phenotypes for gene: CNNM2 were changed from Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418 to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Genetic Epilepsy v0.1572 CNNM2 Ain Roesley Phenotypes for gene: CNNM2 were changed from Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418 to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Genetic Epilepsy v0.1572 CNNM2 Ain Roesley Publications for gene: CNNM2 were set to 34604137; 35170241
Genetic Epilepsy v0.1572 CNNM2 Ain Roesley Publications for gene: CNNM2 were set to 34604137; 35170241
Genetic Epilepsy v0.1572 CNNM2 Ain Roesley Mode of inheritance for gene: CNNM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.1572 CNNM2 Ain Roesley Phenotypes for gene: CNNM2 were changed from Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418 to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Intellectual disability syndromic and non-syndromic v0.4703 CNNM2 Ain Roesley Marked gene: CNNM2 as ready
Intellectual disability syndromic and non-syndromic v0.4703 CNNM2 Ain Roesley Gene: cnnm2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1572 CNNM2 Ain Roesley Mode of inheritance for gene: CNNM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4703 CNNM2 Ain Roesley Publications for gene: CNNM2 were set to
Genetic Epilepsy v0.1571 CNNM2 Ain Roesley Phenotypes for gene: CNNM2 were changed from to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Intellectual disability syndromic and non-syndromic v0.4703 CNNM2 Ain Roesley Mode of inheritance for gene: CNNM2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.1571 CNNM2 Ain Roesley Publications for gene: CNNM2 were set to
Intellectual disability syndromic and non-syndromic v0.4703 CNNM2 Ain Roesley Phenotypes for gene: CNNM2 were changed from to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Genetic Epilepsy v0.1571 CNNM2 Ain Roesley Mode of inheritance for gene: CNNM2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.1570 CNNM2 Ain Roesley Marked gene: CNNM2 as ready
Genetic Epilepsy v0.1570 CNNM2 Ain Roesley Gene: cnnm2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1570 CNNM2 Ain Roesley Marked gene: CNNM2 as ready
Genetic Epilepsy v0.1570 CNNM2 Ain Roesley Gene: cnnm2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1570 CNNM2 Ain Roesley reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34604137, 35170241; Phenotypes: Hypomagnesemia 6, renal MIM#613882, Hypomagnesemia, seizures, and mental retardation MIM#616418; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4702 CNNM2 Ain Roesley reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34604137, 35170241; Phenotypes: Hypomagnesemia 6, renal MIM#613882, Hypomagnesemia, seizures, and mental retardation MIM#616418; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13384 CNNM2 Ain Roesley Marked gene: CNNM2 as ready
Mendeliome v0.13384 CNNM2 Ain Roesley Gene: cnnm2 has been classified as Green List (High Evidence).
Mendeliome v0.13384 CNNM2 Ain Roesley Phenotypes for gene: CNNM2 were changed from to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Mendeliome v0.13383 CNNM2 Ain Roesley Publications for gene: CNNM2 were set to
Mendeliome v0.13383 CNNM2 Ain Roesley Mode of inheritance for gene: CNNM2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13382 CNNM2 Ain Roesley reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34604137, 35170241; Phenotypes: Hypomagnesemia 6, renal MIM#613882, Hypomagnesemia, seizures, and mental retardation MIM#616418; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13382 PIGC Zornitza Stark Marked gene: PIGC as ready
Mendeliome v0.13382 PIGC Zornitza Stark Gene: pigc has been classified as Green List (High Evidence).
Mendeliome v0.13382 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Intellectual disability syndromic and non-syndromic v0.4702 PIGC Zornitza Stark Publications for gene: PIGC were set to 27694521
Intellectual disability syndromic and non-syndromic v0.4701 PIGC Zornitza Stark edited their review of gene: PIGC: Added comment: Third family reported, pair of siblings, DD/seizures.; Changed publications: 27694521, 32707268
Mendeliome v0.13381 PIGC Zornitza Stark Publications for gene: PIGC were set to
Mendeliome v0.13380 PIGC Zornitza Stark Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13379 PIGC Zornitza Stark reviewed gene: PIGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694521, 32707268; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13379 CNGB1 Ain Roesley Marked gene: CNGB1 as ready
Mendeliome v0.13379 CNGB1 Ain Roesley Gene: cngb1 has been classified as Green List (High Evidence).
Mendeliome v0.13379 CNGB1 Ain Roesley Phenotypes for gene: CNGB1 were changed from to Retinitis pigmentosa 45 MIM#613767
Mendeliome v0.13378 CNGB1 Ain Roesley Publications for gene: CNGB1 were set to
Mendeliome v0.13378 CNGB1 Ain Roesley Mode of inheritance for gene: CNGB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13377 CNGB1 Ain Roesley edited their review of gene: CNGB1: Changed rating: GREEN
Mendeliome v0.13377 CNGB1 Ain Roesley reviewed gene: CNGB1: Rating: ; Mode of pathogenicity: None; Publications: 11379879, 15557452, 23661369, 33847019; Phenotypes: Retinitis pigmentosa 45 MIM#613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13377 CNGA1 Ain Roesley Marked gene: CNGA1 as ready
Mendeliome v0.13377 CNGA1 Ain Roesley Gene: cnga1 has been classified as Green List (High Evidence).
Mendeliome v0.13377 CNGA1 Ain Roesley Phenotypes for gene: CNGA1 were changed from to Retinitis pigmentosa 49 MIM#613756
Mendeliome v0.13376 CNGA1 Ain Roesley Publications for gene: CNGA1 were set to
Mendeliome v0.13376 CNGA1 Ain Roesley Mode of inheritance for gene: CNGA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13375 CNGA1 Ain Roesley edited their review of gene: CNGA1: Changed publications: 33633220, 32705276, 30652268, 20301590, 7479749
Mendeliome v0.13375 CNGA1 Ain Roesley reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633220, 32705276, 30652268, 20301590, 7479749]; Phenotypes: Retinitis pigmentosa 49 MIM#613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13375 CLN8 Ain Roesley Marked gene: CLN8 as ready
Mendeliome v0.13375 CLN8 Ain Roesley Gene: cln8 has been classified as Green List (High Evidence).
Mendeliome v0.13375 CLN8 Ain Roesley Publications for gene: CLN8 were set to
Mendeliome v0.13375 CLN8 Ain Roesley Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Mendeliome v0.13375 CLN8 Ain Roesley Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13374 CLN8 Ain Roesley reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508524, 15024724, 16570191; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13374 CLN6 Ain Roesley Marked gene: CLN6 as ready
Mendeliome v0.13374 CLN6 Ain Roesley Gene: cln6 has been classified as Green List (High Evidence).
Mendeliome v0.13374 CLN6 Ain Roesley Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Mendeliome v0.13373 CLN6 Ain Roesley Publications for gene: CLN6 were set to
Mendeliome v0.13373 CLN6 Ain Roesley Mode of inheritance for gene: CLN6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13372 CLN6 Ain Roesley reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11791207, 11727201, 21549341, 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13372 CLEC7A Ain Roesley Marked gene: CLEC7A as ready
Mendeliome v0.13372 CLEC7A Ain Roesley Gene: clec7a has been classified as Red List (Low Evidence).
Mendeliome v0.13372 CLEC7A Ain Roesley Phenotypes for gene: CLEC7A were changed from to {Aspergillosis, susceptibility to} MIM#614079; candidiasis, familial, 4, autosomal recessive MIM#613108
Mendeliome v0.13371 CLEC7A Ain Roesley Publications for gene: CLEC7A were set to
Mendeliome v0.13371 CLEC7A Ain Roesley Classified gene: CLEC7A as Red List (low evidence)
Mendeliome v0.13371 CLEC7A Ain Roesley Gene: clec7a has been classified as Red List (Low Evidence).
Mendeliome v0.13370 CLEC7A Ain Roesley edited their review of gene: CLEC7A: Changed publications: 19864674, 20807886; Changed phenotypes: {Aspergillosis, susceptibility to} MIM#614079, candidiasis, familial, 4, autosomal recessive MIM#613108; Set current diagnostic: yes
Mendeliome v0.13370 CLEC7A Ain Roesley changed review comment from: Unable to find any mendelian disease association; to: Unable to find any mendelian disease association.

Reports of Tyr238* and it's association with {Aspergillosis, susceptibility to} MIM#614079 leading to candidiasis, familial, 4, autosomal recessive MIM#613108
Mendeliome v0.13370 CLEC7A Ain Roesley reviewed gene: CLEC7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.1570 PIGW Zornitza Stark Marked gene: PIGW as ready
Genetic Epilepsy v0.1570 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1570 PIGW Zornitza Stark Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025
Genetic Epilepsy v0.1569 PIGW Zornitza Stark Publications for gene: PIGW were set to
Genetic Epilepsy v0.1568 PIGW Zornitza Stark Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1567 PIGW Zornitza Stark reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4701 PIGW Zornitza Stark Marked gene: PIGW as ready
Intellectual disability syndromic and non-syndromic v0.4701 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4701 PIGW Zornitza Stark Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025
Intellectual disability syndromic and non-syndromic v0.4700 PIGW Zornitza Stark Publications for gene: PIGW were set to
Intellectual disability syndromic and non-syndromic v0.4699 PIGW Zornitza Stark Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4698 PIGW Zornitza Stark reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13370 PIGW Zornitza Stark Marked gene: PIGW as ready
Mendeliome v0.13370 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Mendeliome v0.13370 PIGW Zornitza Stark Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025
Mendeliome v0.13369 PIGW Zornitza Stark Publications for gene: PIGW were set to
Mendeliome v0.13368 PIGW Zornitza Stark Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13367 PIGW Zornitza Stark reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13367 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Mendeliome v0.13367 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Mendeliome v0.13367 PIK3R2 Zornitza Stark Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387
Mendeliome v0.13366 PIK3R2 Zornitza Stark Publications for gene: PIK3R2 were set to
Mendeliome v0.13365 PIK3R2 Zornitza Stark Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13364 PIK3R2 Zornitza Stark reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729224, 23745724, 33604570; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13364 PITX2 Zornitza Stark Marked gene: PITX2 as ready
Mendeliome v0.13364 PITX2 Zornitza Stark Gene: pitx2 has been classified as Green List (High Evidence).
Mendeliome v0.13364 PITX2 Zornitza Stark Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600; Axenfeld-Rieger syndrome, type 1, MIM# 180500
Mendeliome v0.13363 PITX2 Zornitza Stark Publications for gene: PITX2 were set to
Mendeliome v0.13362 PITX2 Zornitza Stark Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13361 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
Mendeliome v0.13361 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Mendeliome v0.13361 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Mendeliome v0.13361 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia MONDO:0021129
Mendeliome v0.13360 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
Mendeliome v0.13359 PITX3 Zornitza Stark Publications for gene: PITX3 were set to
Mendeliome v0.13358 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13357 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
Mendeliome v0.13357 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement, MIM#248190 to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190
Peroxisomal Disorders v0.30 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Peroxisomal Disorders v0.30 PEX11B Zornitza Stark Gene: pex11b has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.30 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920
Mendeliome v0.13356 CLCNKB Zornitza Stark Tag SV/CNV tag was added to gene: CLCNKB.
Peroxisomal Disorders v0.29 PEX11B Zornitza Stark Publications for gene: PEX11B were set to
Peroxisomal Disorders v0.28 PEX11B Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13356 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Mendeliome v0.13356 PEX11B Zornitza Stark Added comment: Comment when marking as ready: Two published families and one International.
Mendeliome v0.13356 PEX11B Zornitza Stark Gene: pex11b has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.27 PEX11B Zornitza Stark reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13356 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920
Mendeliome v0.13355 PEX11B Zornitza Stark Publications for gene: PEX11B were set to
Mendeliome v0.13354 PEX11B Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13353 PER2 Zornitza Stark Marked gene: PER2 as ready
Mendeliome v0.13353 PER2 Zornitza Stark Gene: per2 has been classified as Red List (Low Evidence).
Mendeliome v0.13353 PER2 Zornitza Stark Phenotypes for gene: PER2 were changed from to Advanced sleep phase syndrome, familial, 1 - MIM#604348
Mendeliome v0.13352 PER2 Zornitza Stark Publications for gene: PER2 were set to
Mendeliome v0.13351 PER2 Zornitza Stark Mode of inheritance for gene: PER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13350 PER2 Zornitza Stark Classified gene: PER2 as Red List (low evidence)
Mendeliome v0.13350 PER2 Zornitza Stark Gene: per2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4698 CIT Zornitza Stark Marked gene: CIT as ready
Intellectual disability syndromic and non-syndromic v0.4698 CIT Zornitza Stark Gene: cit has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4698 CIT Zornitza Stark Phenotypes for gene: CIT were changed from to Microcephaly 17, primary, autosomal recessive (MIM#617090)
Intellectual disability syndromic and non-syndromic v0.4697 CIT Zornitza Stark Publications for gene: CIT were set to
Intellectual disability syndromic and non-syndromic v0.4696 CIT Zornitza Stark Mode of inheritance for gene: CIT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4695 CIT Zornitza Stark reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578, 27503289, 27453579; Phenotypes: Microcephaly 17, primary, autosomal recessive (MIM#617090); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13349 PDZD7 Zornitza Stark Marked gene: PDZD7 as ready
Mendeliome v0.13349 PDZD7 Zornitza Stark Gene: pdzd7 has been classified as Green List (High Evidence).
Mendeliome v0.13349 PDZD7 Zornitza Stark Phenotypes for gene: PDZD7 were changed from to Deafness, autosomal recessive 57, MIM# 618003; Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472
Mendeliome v0.13348 PDZD7 Zornitza Stark Publications for gene: PDZD7 were set to
Mendeliome v0.13347 PDZD7 Zornitza Stark Mode of inheritance for gene: PDZD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13346 PDYN Zornitza Stark edited their review of gene: PDYN: Changed rating: GREEN
Mendeliome v0.13346 PDYN Zornitza Stark Marked gene: PDYN as ready
Mendeliome v0.13346 PDYN Zornitza Stark Added comment: Comment when marking as ready: The presence of some of these variants in the population is concerning. However, functional data also supports gene-disease association.
Mendeliome v0.13346 PDYN Zornitza Stark Gene: pdyn has been classified as Green List (High Evidence).
Mendeliome v0.13346 PDYN Zornitza Stark Phenotypes for gene: PDYN were changed from to Spinocerebellar ataxia 23 - MIM#610245
Mendeliome v0.13345 PDYN Zornitza Stark Publications for gene: PDYN were set to
Mendeliome v0.13344 PDYN Zornitza Stark Mode of inheritance for gene: PDYN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v1.9 CHRM2 Zornitza Stark Marked gene: CHRM2 as ready
Dilated Cardiomyopathy v1.9 CHRM2 Zornitza Stark Gene: chrm2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v1.9 CHRM2 Zornitza Stark gene: CHRM2 was added
gene: CHRM2 was added to Dilated Cardiomyopathy. Sources: Expert Review
Mode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHRM2 were set to 23743182; 18451336
Phenotypes for gene: CHRM2 were set to Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related
Review for gene: CHRM2 was set to RED
Added comment: 1 family with 12 affecteds (Cys176Gly, absent in gnomad). Proteomics analysis was later conducted

This gene has not been curated by the ClinGen DCM expert panel.
Sources: Expert Review
Cataract v0.327 CHMP4B Zornitza Stark Marked gene: CHMP4B as ready
Cataract v0.327 CHMP4B Zornitza Stark Gene: chmp4b has been classified as Green List (High Evidence).
Cataract v0.327 CHMP4B Zornitza Stark Phenotypes for gene: CHMP4B were changed from to Cataract 31, multiple types MIM#605387
Cataract v0.326 CHMP4B Zornitza Stark Publications for gene: CHMP4B were set to
Cataract v0.325 CHMP4B Zornitza Stark Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.324 CHMP4B Zornitza Stark reviewed gene: CHMP4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34722561, 17701905, 10682967, 30078984; Phenotypes: Cataract 31, multiple types MIM#605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13343 PDGFRA Zornitza Stark Marked gene: PDGFRA as ready
Mendeliome v0.13343 PDGFRA Zornitza Stark Gene: pdgfra has been classified as Green List (High Evidence).
Mendeliome v0.13343 PDGFRA Zornitza Stark Phenotypes for gene: PDGFRA were changed from to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510
Mendeliome v0.13342 PDGFRA Zornitza Stark Publications for gene: PDGFRA were set to
Mendeliome v0.13341 PDGFRA Zornitza Stark Mode of inheritance for gene: PDGFRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13340 RSPH3 Zornitza Stark Marked gene: RSPH3 as ready
Mendeliome v0.13340 RSPH3 Zornitza Stark Gene: rsph3 has been classified as Green List (High Evidence).
Mendeliome v0.13340 RSPH3 Zornitza Stark Phenotypes for gene: RSPH3 were changed from to Ciliary dyskinesia, primary, 32 MIM#616481
Mendeliome v0.13339 RSPH3 Zornitza Stark Publications for gene: RSPH3 were set to
Mendeliome v0.13338 RSPH3 Zornitza Stark Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13337 EIF2AK2 Zornitza Stark edited their review of gene: EIF2AK2: Changed phenotypes: Dystonia 33, MIM# 619687, Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.18 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to 25789548; 22448264
Mendeliome v0.13337 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Mendeliome v0.13337 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Green List (High Evidence).
Mendeliome v0.13337 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11, OMIM#612649
Mendeliome v0.13336 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Mendeliome v0.13335 RSPH4A Zornitza Stark Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.17 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to 25789548; 31285900
Mendeliome v0.13334 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Mendeliome v0.13334 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Green List (High Evidence).
Mendeliome v0.13334 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12, MIM#612650
Mendeliome v0.13333 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Mendeliome v0.13332 RSPH9 Zornitza Stark Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13331 BVES Zornitza Stark Marked gene: BVES as ready
Mendeliome v0.13331 BVES Zornitza Stark Gene: bves has been classified as Green List (High Evidence).
Mendeliome v0.13331 BVES Zornitza Stark Phenotypes for gene: BVES were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812
Mendeliome v0.13330 FOXA2 Bryony Thompson Phenotypes for gene: FOXA2 were changed from Hyperinsulinaemia to Hyperinsulinism MONDO:0002177
Mendeliome v0.13329 BVES Zornitza Stark Publications for gene: BVES were set to
Mendeliome v0.13328 BVES Zornitza Stark Mode of inheritance for gene: BVES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13327 BVES Zornitza Stark changed review comment from: PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.

PMID: 32528171 - 1 patient with limb girdle weakness.

PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.; to: PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies: zebrafish model. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.

PMID: 32528171 - 1 patient with limb girdle weakness.

PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.
Mendeliome v0.13327 BVES Zornitza Stark reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364, 32528171, 31119192; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13327 FLII Bryony Thompson Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021
Mendeliome v0.13326 CLDN19 Ain Roesley edited their review of gene: CLDN19: Changed publications: 17033971, 22422540, 27530400
Mendeliome v0.13326 CLDN19 Ain Roesley Marked gene: CLDN19 as ready
Mendeliome v0.13326 CLDN19 Ain Roesley Gene: cldn19 has been classified as Green List (High Evidence).
Mendeliome v0.13326 CLDN19 Ain Roesley Phenotypes for gene: CLDN19 were changed from to Hypomagnesemia 5, renal, with ocular involvement, MIM#248190
Mendeliome v0.13325 CLDN19 Ain Roesley Publications for gene: CLDN19 were set to
Mendeliome v0.13325 CLDN19 Ain Roesley Mode of inheritance for gene: CLDN19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13324 CLDN19 Ain Roesley reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033971, 22422540, 27530400]; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM#248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13324 CLDN16 Ain Roesley Marked gene: CLDN16 as ready
Mendeliome v0.13324 CLDN16 Ain Roesley Gene: cldn16 has been classified as Green List (High Evidence).
Mendeliome v0.13324 CLDN16 Ain Roesley Phenotypes for gene: CLDN16 were changed from to Hypomagnesemia 3, renal MIM#248250; amelogenesis imperfecta MONDO#0019507, CLDN16-related
Mendeliome v0.13324 CLDN16 Ain Roesley Publications for gene: CLDN16 were set to
Mendeliome v0.13324 CLDN16 Ain Roesley Mode of inheritance for gene: CLDN16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13323 CLDN16 Ain Roesley reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: None; Publications: 26426912, 16501001, 10878661, 32869508; Phenotypes: Hypomagnesemia 3, renal MIM#248250, amelogenesis imperfecta MONDO#0019507, CLDN16-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13323 CLDN1 Ain Roesley Marked gene: CLDN1 as ready
Mendeliome v0.13323 CLDN1 Ain Roesley Gene: cldn1 has been classified as Green List (High Evidence).
Mendeliome v0.13323 CLDN1 Ain Roesley Publications for gene: CLDN1 were set to
Mendeliome v0.13324 CLDN1 Ain Roesley Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
Mendeliome v0.13323 CLDN1 Ain Roesley Mode of inheritance for gene: CLDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13322 CLDN1 Ain Roesley reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12164927, 11889141, 29146216; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13322 CLCNKB Ain Roesley Marked gene: CLCNKB as ready
Mendeliome v0.13322 CLCNKB Ain Roesley Gene: clcnkb has been classified as Green List (High Evidence).
Mendeliome v0.13322 CLCNKB Ain Roesley Phenotypes for gene: CLCNKB were changed from to Bartter syndrome, type 3, MIM# 607364; Bartter syndrome, type 4b, digenic, MIM# 613090
Mendeliome v0.13322 CLCNKB Ain Roesley Publications for gene: CLCNKB were set to
Mendeliome v0.13321 CLCNKB Ain Roesley Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13321 CLCNKB Ain Roesley Mode of inheritance for gene: CLCNKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13320 CLCNKB Ain Roesley reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326936, 15044642, 18310267; Phenotypes: Bartter syndrome, type 3, MIM# 607364, Bartter syndrome, type 4b, digenic, MIM# 613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13320 CLCF1 Ain Roesley Marked gene: CLCF1 as ready
Mendeliome v0.13320 CLCF1 Ain Roesley Gene: clcf1 has been classified as Green List (High Evidence).
Mendeliome v0.13320 CLCF1 Ain Roesley Phenotypes for gene: CLCF1 were changed from to Cold-induced sweating syndrome 2 MIM#610313
Mendeliome v0.13319 CLCF1 Ain Roesley Publications for gene: CLCF1 were set to
Mendeliome v0.13319 CLCF1 Ain Roesley Mode of inheritance for gene: CLCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13318 CLCF1 Ain Roesley edited their review of gene: CLCF1: Changed rating: GREEN
Mendeliome v0.13318 CLCF1 Ain Roesley reviewed gene: CLCF1: Rating: ; Mode of pathogenicity: None; Publications: 16782820, 20400119, 21370513; Phenotypes: Cold-induced sweating syndrome 2 MIM#610313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13318 PEX11B Krithika Murali reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13318 PER2 Krithika Murali reviewed gene: PER2: Rating: RED; Mode of pathogenicity: None; Publications: 33474825, 31527662, 11232563, 10408444, 11395012, 11232563; Phenotypes: ?Advanced sleep phase syndrome, familial, 1 - MIM#604348; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13318 CIT Ain Roesley Marked gene: CIT as ready
Mendeliome v0.13318 CIT Ain Roesley Gene: cit has been classified as Green List (High Evidence).
Mendeliome v0.13318 CIT Ain Roesley Publications for gene: CIT were set to 27453578; 27503289; 27453579
Mendeliome v0.13317 CIT Ain Roesley Phenotypes for gene: CIT were changed from Microcephaly 17, primary, autosomal recessive (MIM#617090) to Microcephaly 17, primary, autosomal recessive (MIM#617090)
Mendeliome v0.13317 CIT Ain Roesley Phenotypes for gene: CIT were changed from to Microcephaly 17, primary, autosomal recessive (MIM#617090)
Mendeliome v0.13316 CIT Ain Roesley Publications for gene: CIT were set to
Mendeliome v0.13316 CIT Ain Roesley Mode of inheritance for gene: CIT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13315 CIT Ain Roesley reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578, 27503289, 27453579; Phenotypes: Microcephaly 17, primary, autosomal recessive (MIM#617090); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13315 CISH Ain Roesley Marked gene: CISH as ready
Mendeliome v0.13315 CISH Ain Roesley Gene: cish has been classified as Red List (Low Evidence).
Mendeliome v0.13315 CISH Ain Roesley Classified gene: CISH as Red List (low evidence)
Mendeliome v0.13315 CISH Ain Roesley Gene: cish has been classified as Red List (Low Evidence).
Mendeliome v0.13314 CISH Ain Roesley reviewed gene: CISH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13314 PDZD7 Krithika Murali reviewed gene: PDZD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20440071, 19028668, 26416264, 26849169, 27068579, 26445815, 28173822l, 24334608; Phenotypes: Deafness, autosomal recessive 57, MIM# 618003, Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13314 CISD2 Ain Roesley Marked gene: CISD2 as ready
Mendeliome v0.13314 CISD2 Ain Roesley Gene: cisd2 has been classified as Green List (High Evidence).
Mendeliome v0.13314 CISD2 Ain Roesley Publications for gene: CISD2 were set to
Mendeliome v0.13315 CISD2 Ain Roesley Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2 MIM#604928
Mendeliome v0.13314 CISD2 Ain Roesley Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13313 CISD2 Ain Roesley reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29237418, 28335035, 27459537, 26230298, 17846994; Phenotypes: Wolfram syndrome 2 MIM#604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13313 CILP Ain Roesley Marked gene: CILP as ready
Mendeliome v0.13313 CILP Ain Roesley Gene: cilp has been classified as Red List (Low Evidence).
Mendeliome v0.13313 CILP Ain Roesley Classified gene: CILP as Red List (low evidence)
Mendeliome v0.13313 CILP Ain Roesley Gene: cilp has been classified as Red List (Low Evidence).
Mendeliome v0.13312 CILP Ain Roesley reviewed gene: CILP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13312 PDYN Krithika Murali reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301317, 23471613, 23108490, 22243190, 22287014; Phenotypes: Spinocerebellar ataxia 23 - MIM#610245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4695 CIC Ain Roesley Marked gene: CIC as ready
Intellectual disability syndromic and non-syndromic v0.4695 CIC Ain Roesley Gene: cic has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4695 CIC Ain Roesley Phenotypes for gene: CIC were changed from to Intellectual developmental disorder, autosomal dominant 45 MIM#617600
Intellectual disability syndromic and non-syndromic v0.4695 CIC Ain Roesley Publications for gene: CIC were set to
Intellectual disability syndromic and non-syndromic v0.4695 CIC Ain Roesley Mode of inheritance for gene: CIC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13312 CIC Ain Roesley Marked gene: CIC as ready
Mendeliome v0.13312 CIC Ain Roesley Gene: cic has been classified as Green List (High Evidence).
Mendeliome v0.13312 CIC Ain Roesley Phenotypes for gene: CIC were changed from to Intellectual developmental disorder, autosomal dominant 45 MIM#617600
Mendeliome v0.13311 CIC Ain Roesley Publications for gene: CIC were set to
Mendeliome v0.13311 CIC Ain Roesley Mode of inheritance for gene: CIC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4694 CIC Ain Roesley reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28288114, 21076407; Phenotypes: Intellectual developmental disorder, autosomal dominant 45 MIM#617600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13310 CIC Ain Roesley reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28288114, 21076407; Phenotypes: Intellectual developmental disorder, autosomal dominant 45 MIM#617600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13310 CHST14 Ain Roesley Marked gene: CHST14 as ready
Mendeliome v0.13310 CHST14 Ain Roesley Gene: chst14 has been classified as Green List (High Evidence).
Mendeliome v0.13310 CHST14 Ain Roesley Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776
Mendeliome v0.13309 CHST14 Ain Roesley Publications for gene: CHST14 were set to
Mendeliome v0.13309 CHST14 Ain Roesley Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13308 CHST14 Ain Roesley reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 25703627, 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1567 CHRNA2 Ain Roesley Publications for gene: CHRNA2 were set to 16826524; 25770198; 30809122; 25847220
Genetic Epilepsy v0.1567 CHRNA2 Ain Roesley Phenotypes for gene: CHRNA2 were changed from Epilepsy, nocturnal frontal lobe, type 4 MIM#610353 to Epilepsy, nocturnal frontal lobe, type 4 MIM#610353
Genetic Epilepsy v0.1566 CHRNA2 Ain Roesley Phenotypes for gene: CHRNA2 were changed from to Epilepsy, nocturnal frontal lobe, type 4 MIM#610353
Genetic Epilepsy v0.1566 CHRNA2 Ain Roesley Publications for gene: CHRNA2 were set to
Genetic Epilepsy v0.1566 CHRNA2 Ain Roesley Marked gene: CHRNA2 as ready
Genetic Epilepsy v0.1566 CHRNA2 Ain Roesley Gene: chrna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1566 CHRNA2 Ain Roesley Mode of inheritance for gene: CHRNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1565 CHRNA2 Ain Roesley reviewed gene: CHRNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826524, 25770198, 30809122, 25847220; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4 MIM#610353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13308 CHRNA2 Ain Roesley Marked gene: CHRNA2 as ready
Mendeliome v0.13308 CHRNA2 Ain Roesley Gene: chrna2 has been classified as Green List (High Evidence).
Mendeliome v0.13308 CHRNA2 Ain Roesley Phenotypes for gene: CHRNA2 were changed from to Epilepsy, nocturnal frontal lobe, type 4 MIM#610353
Mendeliome v0.13307 CHRNA2 Ain Roesley Publications for gene: CHRNA2 were set to
Mendeliome v0.13307 CHRNA2 Ain Roesley Mode of inheritance for gene: CHRNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13306 CHRNA2 Ain Roesley reviewed gene: CHRNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826524, 25770198, 30809122, 25847220; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4 MIM#610353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13306 CHRM2 Ain Roesley Marked gene: CHRM2 as ready
Mendeliome v0.13306 CHRM2 Ain Roesley Gene: chrm2 has been classified as Red List (Low Evidence).
Mendeliome v0.13306 CHRM2 Ain Roesley Phenotypes for gene: CHRM2 were changed from to Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related
Mendeliome v0.13305 CHRM2 Ain Roesley Mode of inheritance for gene: CHRM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13305 CHRM2 Ain Roesley Publications for gene: CHRM2 were set to
Mendeliome v0.13305 CHRM2 Ain Roesley Classified gene: CHRM2 as Red List (low evidence)
Mendeliome v0.13305 CHRM2 Ain Roesley Gene: chrm2 has been classified as Red List (Low Evidence).
Mendeliome v0.13304 CHRM2 Ain Roesley reviewed gene: CHRM2: Rating: RED; Mode of pathogenicity: None; Publications: 23743182, 18451336; Phenotypes: Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13304 CHN1 Ain Roesley Marked gene: CHN1 as ready
Mendeliome v0.13304 CHN1 Ain Roesley Gene: chn1 has been classified as Green List (High Evidence).
Mendeliome v0.13304 CHN1 Ain Roesley Publications for gene: CHN1 were set to 20301369
Mendeliome v0.13303 CHN1 Ain Roesley Phenotypes for gene: CHN1 were changed from to Duane retraction syndrome 2,MIM#604356
Mendeliome v0.13303 CHN1 Ain Roesley Publications for gene: CHN1 were set to
Mendeliome v0.13302 CHN1 Ain Roesley Mode of pathogenicity for gene: CHN1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.13302 CHN1 Ain Roesley Mode of inheritance for gene: CHN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13301 CHN1 Ain Roesley changed review comment from: Established association.

GoF is the mechanism; to: Established association.
From Genereviews:
GoF is the mechanism
Mendeliome v0.13301 CHN1 Ain Roesley reviewed gene: CHN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20301369; Phenotypes: Duane retraction syndrome 2,MIM#604356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13301 CHMP4B Ain Roesley Marked gene: CHMP4B as ready
Mendeliome v0.13301 CHMP4B Ain Roesley Gene: chmp4b has been classified as Green List (High Evidence).
Mendeliome v0.13301 CHMP4B Ain Roesley Phenotypes for gene: CHMP4B were changed from to Cataract 31, multiple types MIM#605387
Mendeliome v0.13300 CHMP4B Ain Roesley Publications for gene: CHMP4B were set to
Mendeliome v0.13300 CHMP4B Ain Roesley Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13299 CHMP4B Ain Roesley reviewed gene: CHMP4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34722561, 17701905, 10682967, 30078984; Phenotypes: Cataract 31, multiple types MIM#605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13299 CHM Ain Roesley Marked gene: CHM as ready
Mendeliome v0.13299 CHM Ain Roesley Gene: chm has been classified as Green List (High Evidence).
Mendeliome v0.13299 CHM Ain Roesley Publications for gene: CHM were set to
Mendeliome v0.13299 CHM Ain Roesley Phenotypes for gene: CHM were changed from to Choroideremia MIM#303100
Mendeliome v0.13299 CHM Ain Roesley Mode of inheritance for gene: CHM was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13298 CHM Ain Roesley reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301511; Phenotypes: Choroideremia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.13298 CHIT1 Ain Roesley Phenotypes for gene: CHIT1 were changed from [Chitotriosidase deficiency] MIM#614122 to [Chitotriosidase deficiency] MIM#614122
Mendeliome v0.13298 CHIT1 Ain Roesley Publications for gene: CHIT1 were set to
Mendeliome v0.13297 CHIT1 Ain Roesley Phenotypes for gene: CHIT1 were changed from to [Chitotriosidase deficiency] MIM#614122
Mendeliome v0.13297 CHIT1 Ain Roesley Marked gene: CHIT1 as ready
Mendeliome v0.13297 CHIT1 Ain Roesley Gene: chit1 has been classified as Red List (Low Evidence).
Mendeliome v0.13297 CHIT1 Ain Roesley Classified gene: CHIT1 as Red List (low evidence)
Mendeliome v0.13297 CHIT1 Ain Roesley Gene: chit1 has been classified as Red List (Low Evidence).
Mendeliome v0.13297 PDGFRA Krithika Murali changed review comment from: ?Suitability for Incidentalome versus Mendeliome based on adult age of diagnosis in reported cases.

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Six unrelated families reported with heterozygous germline variants associated with familial GIST and/or inflammatory fibroid polyps - IFP (benign lesions caused by excessive tissue proliferation and inflammatory cell infiltration into the lumen of the GI tract). Note that reported individuals diagnosed as adults. One individual reported with diagnosis of gastric mass/polyps age 22 (in 1977) raising the possibility of pre-symptomatic disease onset in adolescence. Green PanelApp England in the following panels: tumour predisposition - childhood onset; inherited predisposition to GIST; sarcoma cancer susceptibility.

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PMID 34107389 Hodan et al 2021 - report a 35 yo F with jejunal IFP and a heterozygous germline missense PDGFRA variant (c.1664A>G p.Y555C) . The variant segregated with 3 relatives with confirmed IFPs. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This variant was also reported in an unrelated family with multiple IFPs in 2006.

PMID 29486293 Manley et al 2018 - proband is a 50 yo M with multiple ileal intusussceptions and IFPs and GIST. Heterozygous D846V germline variant identified. Variant identified in daughter and 2 siblings. Coarser face, coarser skin, broader hands and feet, unexplained premature loss of teeth requiring dentures in their 40s described in relatives with the variant, no polyps or tumour identified in screened family members. Pdgfra +/K mutant mice recapitulated the human phenotype. Mice with the constitutively activated mutant PDGFRA shown to have diffuse expansion of the gastrointestinal submucosa, which exhibits an increased number of spindled fibroblast-like cells and marked collagen deposition. Mutant mice also develop intestinal polyps morphologically similar to IFPs. The Pdgfra +/K mice also exhibit thickened skin due to excess collagen deposition within the dermis and subcutaneous tissues.

PMID 25975287 Ricci et al 2015 - report a family with het germline P653L PDGFRA missense variant. The proband was a 67 yo M with multiple intra-abdominal GIST and gastric/colonic inflammatory fibroid polyps. Multiple adult relatives (youngest age 31) were diagnosed with IFPs/fibrous tumours with the variant segregating with disease.

PMID: 18670346 Carney et al 2008 and PMID: 17566086 Pasini et al 2007 - heterozygous germline PDGFRA mutation (V561D) in an individual with GIST and multiple polyps, diagnosed initially aged 22 with multiple GIST/polyps. No other relatives available for genotyping and no other significant family history reported.

PMID: 17087943 de Raedt et al 2006 - heterozygous PDGFRA(Y555C) variant reported in a family with multiple relatives affected by IFP, including one death from secondary bowel obstruction age 35.

PMID: 14699510 Chompret et al 2004 - Heterozygous c.2675G>T D846Y germline variant detected in a French family with 5 relatives developing adult-onset GIST, variant segregated with disease.

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Gain of function somatic variants associated with sporadic GIST. Somatic chromosomal rearrangements resulting in PDGFRA and FIP1L1 gene fusion associated with idiopathic hypereosinophilic syndrome.; to: Six unrelated families reported with heterozygous germline variants associated with familial GIST and/or inflammatory fibroid polyps - IFP (benign lesions caused by excessive tissue proliferation and inflammatory cell infiltration into the lumen of the GI tract). Note that reported individuals diagnosed as adults. One individual reported with diagnosis of gastric mass/polyps age 22 (in 1977) raising the possibility of pre-symptomatic disease onset in adolescence. Green PanelApp England in the following panels: tumour predisposition - childhood onset; inherited predisposition to GIST; sarcoma cancer susceptibility.

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PMID 34107389 Hodan et al 2021 - report a 35 yo F with jejunal IFP and a heterozygous germline missense PDGFRA variant (c.1664A>G p.Y555C) . The variant segregated with 3 relatives with confirmed IFPs. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This variant was also reported in an unrelated family with multiple IFPs in 2006.

PMID 29486293 Manley et al 2018 - proband is a 50 yo M with multiple ileal intusussceptions and IFPs and GIST. Heterozygous D846V germline variant identified. Variant identified in daughter and 2 siblings. Coarser face, coarser skin, broader hands and feet, unexplained premature loss of teeth requiring dentures in their 40s described in relatives with the variant, no polyps or tumour identified in screened family members. Pdgfra +/K mutant mice recapitulated the human phenotype. Mice with the constitutively activated mutant PDGFRA shown to have diffuse expansion of the gastrointestinal submucosa, which exhibits an increased number of spindled fibroblast-like cells and marked collagen deposition. Mutant mice also develop intestinal polyps morphologically similar to IFPs. The Pdgfra +/K mice also exhibit thickened skin due to excess collagen deposition within the dermis and subcutaneous tissues.

PMID 25975287 Ricci et al 2015 - report a family with het germline P653L PDGFRA missense variant. The proband was a 67 yo M with multiple intra-abdominal GIST and gastric/colonic inflammatory fibroid polyps. Multiple adult relatives (youngest age 31) were diagnosed with IFPs/fibrous tumours with the variant segregating with disease.

PMID: 18670346 Carney et al 2008 and PMID: 17566086 Pasini et al 2007 - heterozygous germline PDGFRA mutation (V561D) in an individual with GIST and multiple polyps, diagnosed initially aged 22 with multiple GIST/polyps. No other relatives available for genotyping and no other significant family history reported.

PMID: 17087943 de Raedt et al 2006 - heterozygous PDGFRA(Y555C) variant reported in a family with multiple relatives affected by IFP, including one death from secondary bowel obstruction age 35.

PMID: 14699510 Chompret et al 2004 - Heterozygous c.2675G>T D846Y germline variant detected in a French family with 5 relatives developing adult-onset GIST, variant segregated with disease.

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Gain of function somatic variants associated with sporadic GIST. Somatic chromosomal rearrangements resulting in PDGFRA and FIP1L1 gene fusion associated with idiopathic hypereosinophilic syndrome.
Mendeliome v0.13296 CHIT1 Ain Roesley reviewed gene: CHIT1: Rating: RED; Mode of pathogenicity: None; Publications: 23430794; Phenotypes: [Chitotriosidase deficiency] MIM#614122; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13296 CHD1 Ain Roesley Marked gene: CHD1 as ready
Mendeliome v0.13296 CHD1 Ain Roesley Gene: chd1 has been classified as Green List (High Evidence).
Mendeliome v0.13296 CHD1 Ain Roesley Phenotypes for gene: CHD1 were changed from to Pilarowski-Bjornsson syndrome, MIM#617682
Mendeliome v0.13296 CHD1 Ain Roesley Publications for gene: CHD1 were set to
Mendeliome v0.13295 CHD1 Ain Roesley Mode of pathogenicity for gene: CHD1 was changed from to Other
Mendeliome v0.13295 CHD1 Ain Roesley Mode of inheritance for gene: CHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13294 CHD1 Ain Roesley edited their review of gene: CHD1: Changed mode of pathogenicity: Other
Mendeliome v0.13294 CHD1 Ain Roesley reviewed gene: CHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28866611; Phenotypes: Pilarowski-Bjornsson syndrome, MIM#617682; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13294 CFP Ain Roesley Marked gene: CFP as ready
Mendeliome v0.13294 CFP Ain Roesley Gene: cfp has been classified as Green List (High Evidence).
Mendeliome v0.13294 CFP Ain Roesley Phenotypes for gene: CFP were changed from to Properdin deficiency, X-linked MIM#312060
Mendeliome v0.13293 CFP Ain Roesley Publications for gene: CFP were set to
Mendeliome v0.13293 CFP Ain Roesley Mode of inheritance for gene: CFP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13292 CFP Ain Roesley reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 8871668, 10909851, 22229731, 9476131, 10698340, 10540191, 16511390, 19328743; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.13292 PDGFRA Krithika Murali reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 14699510, 17087943, 25975287, 29486293, 33449152, 34107389, 17566086, 18670346; Phenotypes: Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13292 CFI Ain Roesley Marked gene: CFI as ready
Mendeliome v0.13292 CFI Ain Roesley Gene: cfi has been classified as Green List (High Evidence).
Mendeliome v0.13292 CFI Ain Roesley Marked gene: CFI as ready
Mendeliome v0.13292 CFI Ain Roesley Gene: cfi has been classified as Green List (High Evidence).
Mendeliome v0.13292 CFI Ain Roesley Phenotypes for gene: CFI were changed from to Complement factor I deficiency MIM#610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923
Mendeliome v0.13291 CFI Ain Roesley Publications for gene: CFI were set to
Mendeliome v0.13290 CFI Ain Roesley Mode of inheritance for gene: CFI was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13289 CFI Ain Roesley reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: 29292855, 28942469, 27091480, 20301541; Phenotypes: Complement factor I deficiency MIM#610984, {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v1.16 RSPH3 Belinda Chong reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 MIM#616481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13289 RSPH3 Belinda Chong reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 MIM#616481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13289 HSPG2 Zornitza Stark changed review comment from: Allelic disorders with some phenotypic overlap.

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature. More than 20 families reported.

Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. Two families reported.; to: Allelic disorders with some phenotypic overlap.

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature. More than 20 families reported.

Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. Two families reported. Appears associated with null variants.
Mendeliome v0.13289 PKD1 Zornitza Stark Marked gene: PKD1 as ready
Mendeliome v0.13289 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Mendeliome v0.13289 PKD1 Zornitza Stark Phenotypes for gene: PKD1 were changed from to Polycystic kidney disease 1, MIM# 173900
Mendeliome v0.13288 PKD1 Zornitza Stark Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13287 PKD1 Zornitza Stark reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13287 PKD2 Zornitza Stark Marked gene: PKD2 as ready
Mendeliome v0.13287 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Mendeliome v0.13287 PKD2 Zornitza Stark Phenotypes for gene: PKD2 were changed from to Polycystic kidney disease 2, MIM# 613095
Mendeliome v0.13286 PKD2 Zornitza Stark Mode of inheritance for gene: PKD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13285 PKD2 Zornitza Stark reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 2, MIM# 613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13285 PKLR Zornitza Stark Marked gene: PKLR as ready
Mendeliome v0.13285 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Mendeliome v0.13285 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from to Pyruvate kinase deficiency, MIM# 266200; Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900
Mendeliome v0.13284 PKLR Zornitza Stark Publications for gene: PKLR were set to
Mendeliome v0.13283 PKLR Zornitza Stark Mode of inheritance for gene: PKLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13282 PKLR Zornitza Stark reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1896471, 9160692, 9057665, 16704447, 9090535; Phenotypes: Pyruvate kinase deficiency, MIM# 266200, Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13282 PKP1 Zornitza Stark Marked gene: PKP1 as ready
Mendeliome v0.13282 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Mendeliome v0.13282 PKP1 Zornitza Stark Phenotypes for gene: PKP1 were changed from to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536
Mendeliome v0.13281 PKP1 Zornitza Stark Publications for gene: PKP1 were set to
Mendeliome v0.13280 PKP1 Zornitza Stark Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13279 PKP1 Zornitza Stark reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.120 PLA2G5 Zornitza Stark Phenotypes for gene: PLA2G5 were changed from Fleck retina, familial benign to [Fleck retina, familial benign], MIM# 228980
Retinitis pigmentosa v0.119 PLA2G5 Zornitza Stark Publications for gene: PLA2G5 were set to
Retinitis pigmentosa v0.118 PLA2G5 Zornitza Stark reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22137173; Phenotypes: [Fleck retina, familial benign], MIM# 228980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13279 PLA2G5 Zornitza Stark Marked gene: PLA2G5 as ready
Mendeliome v0.13279 PLA2G5 Zornitza Stark Gene: pla2g5 has been classified as Green List (High Evidence).
Mendeliome v0.13279 PLA2G5 Zornitza Stark Phenotypes for gene: PLA2G5 were changed from to [Fleck retina, familial benign], MIM# 228980
Mendeliome v0.13278 PLA2G5 Zornitza Stark Publications for gene: PLA2G5 were set to
Mendeliome v0.13277 PLA2G5 Zornitza Stark Mode of inheritance for gene: PLA2G5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13276 PLA2G5 Zornitza Stark reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22137173; Phenotypes: [Fleck retina, familial benign], MIM# 228980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.193 PLCE1 Zornitza Stark Marked gene: PLCE1 as ready
Proteinuria v0.193 PLCE1 Zornitza Stark Gene: plce1 has been classified as Green List (High Evidence).
Proteinuria v0.193 PLCE1 Zornitza Stark Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3, MIM# 610725
Proteinuria v0.192 PLCE1 Zornitza Stark Publications for gene: PLCE1 were set to
Proteinuria v0.191 PLCE1 Zornitza Stark Mode of inheritance for gene: PLCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.190 PLCE1 Zornitza Stark reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13276 PLCE1 Zornitza Stark Marked gene: PLCE1 as ready
Mendeliome v0.13276 PLCE1 Zornitza Stark Gene: plce1 has been classified as Green List (High Evidence).
Mendeliome v0.13276 PLCE1 Zornitza Stark Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3, MIM# 610725
Mendeliome v0.13275 PLCE1 Zornitza Stark Publications for gene: PLCE1 were set to
Mendeliome v0.13274 PLCE1 Zornitza Stark Mode of inheritance for gene: PLCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13273 PLCE1 Zornitza Stark reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13273 PLCG2 Zornitza Stark Marked gene: PLCG2 as ready
Mendeliome v0.13273 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Mendeliome v0.13273 PLCG2 Zornitza Stark Phenotypes for gene: PLCG2 were changed from to Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Mendeliome v0.13272 PLCG2 Zornitza Stark Publications for gene: PLCG2 were set to
Mendeliome v0.13271 PLCG2 Zornitza Stark Mode of pathogenicity for gene: PLCG2 was changed from to Other
Mendeliome v0.13270 PLCG2 Zornitza Stark Mode of inheritance for gene: PLCG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.24 PLEKHM1 Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from to Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497
Osteopetrosis v0.23 PLEKHM1 Zornitza Stark Publications for gene: PLEKHM1 were set to
Osteopetrosis v0.22 PLEKHM1 Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.21 PLEKHM1 Zornitza Stark edited their review of gene: PLEKHM1: Added comment: Three individuals reported with mono allelic variants, and two with bi-allelic. Animal models.; Changed publications: 27291868, 21054159, 17997709, 17404618, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107, Osteopetrosis, autosomal recessive 6 , MIM# 611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13269 PLEKHM1 Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from Osteopetrosis, autosomal dominant 3, MIM# 618107 to Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497
Mendeliome v0.13268 PLEKHM1 Zornitza Stark Publications for gene: PLEKHM1 were set to 27291868; 21054159; 17997709; 17404618
Mendeliome v0.13267 PLEKHM1 Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13266 PLEKHM1 Zornitza Stark changed review comment from: Three individuals reported with mono allelic variants, and one with bi-allelic. Animal model.; to: Three individuals reported with mono allelic variants, and two with bi-allelic. Animal models.
Mendeliome v0.13266 PLEKHM1 Zornitza Stark edited their review of gene: PLEKHM1: Changed publications: 27291868, 21054159, 17997709, 17404618, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107, Osteopetrosis, autosomal recessive 6 , MIM# 611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.21 PLEKHM1 Zornitza Stark reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27291868, 21054159, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13266 PLEKHM1 Zornitza Stark Marked gene: PLEKHM1 as ready
Mendeliome v0.13266 PLEKHM1 Zornitza Stark Gene: plekhm1 has been classified as Green List (High Evidence).
Mendeliome v0.13266 PLEKHM1 Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from to Osteopetrosis, autosomal dominant 3, MIM# 618107
Mendeliome v0.13265 PLEKHM1 Zornitza Stark Publications for gene: PLEKHM1 were set to
Mendeliome v0.13264 PLEKHM1 Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13263 PLEKHM1 Zornitza Stark reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27291868, 21054159, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v1.16 RSPH4A Belinda Chong reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23798057, 23798057, 23798057, 25789548, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11 OMIM#612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13263 RSPH4A Belinda Chong edited their review of gene: RSPH4A: Changed publications: 23798057, 23798057, 23798057, 25789548, 22448264
Mendeliome v0.13263 RSPH4A Belinda Chong changed review comment from: Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009; PMID19200523)

9 families with primary ciliary dyskinesia without situs inversus (Kott et al. 2013 (PMID:23993197), Castleman et al., 2009 (PMID19200523) and Daniels et al. 2013; (PMID:23798057)):
- In affected members of 4 Pakistani families with CILD11, Castleman et al. (2009) identified a homozygous mutation in the RSPH4A gene.
- In affected members of a family of northern European descent with CILD11, Castleman et al. (2009) identified compound heterozygosity for 2 mutations in the RSPH4A gene
- Kott et al. (2013) identified pathogenic mutations in the RSPH4A gene in 7 (14%) of 48 families with a specific CILD.

Common founder mutation:
- Daniels et al. (2013) identified a common founder mutation in the RSPH4A gene in 9 patients with CILD11, all of whom had Puerto Rican ancestry.

Multiple individuals in ClinVar with primary ciliary dyskinesia; to: Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009; PMID19200523)

9 families with primary ciliary dyskinesia without situs inversus (Kott et al. 2013 (PMID:23993197), Castleman et al., 2009 (PMID19200523) and Daniels et al. 2013; (PMID:23798057)):
- In affected members of 4 Pakistani families with CILD11, Castleman et al. (2009) identified a homozygous mutation in the RSPH4A gene.
- In affected members of a family of northern European descent with CILD11, Castleman et al. (2009) identified compound heterozygosity for 2 mutations in the RSPH4A gene
- Kott et al. (2013) identified pathogenic mutations in the RSPH4A gene in 7 (14%) of 48 families with a specific CILD.

Common founder mutation:
- Daniels et al. (2013) identified a common founder mutation in the RSPH4A gene in 9 patients with CILD11, all of whom had Puerto Rican ancestry.

Multiple individuals in ClinVar with primary ciliary dyskinesia

PMID: 25789548; Frommer 2015: 8 PCD families reported, only 4 different variants identified. Functional studies performed.

PMID: 22448264; Ziętkiewicz 2012: 4 additional families/variants reported.
Mendeliome v0.13263 RSPH4A Belinda Chong reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23798057, 23798057, 23798057; Phenotypes: Ciliary dyskinesia, primary, 11 OMIM#612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v1.16 RSPH9 Belinda Chong reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13263 RSPH9 Belinda Chong reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13263 PLN Zornitza Stark Marked gene: PLN as ready
Mendeliome v0.13263 PLN Zornitza Stark Gene: pln has been classified as Green List (High Evidence).
Mendeliome v0.13263 PLN Zornitza Stark Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909; Cardiomyopathy, hypertrophic, 18 (MIM #613874)
Mendeliome v0.13262 PLN Zornitza Stark Publications for gene: PLN were set to
Mendeliome v0.13261 PLN Zornitza Stark Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13260 PLN Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909, Cardiomyopathy, hypertrophic, 18 (MIM #613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13260 PLOD1 Zornitza Stark edited their review of gene: PLOD1: Changed phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400
Mendeliome v0.13260 PLOD1 Zornitza Stark Marked gene: PLOD1 as ready
Mendeliome v0.13260 PLOD1 Zornitza Stark Gene: plod1 has been classified as Green List (High Evidence).
Mendeliome v0.13260 PLOD1 Zornitza Stark Phenotypes for gene: PLOD1 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM## 225400
Mendeliome v0.13259 PLOD1 Zornitza Stark Publications for gene: PLOD1 were set to
Mendeliome v0.13258 PLOD1 Zornitza Stark Mode of inheritance for gene: PLOD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13257 PLOD1 Zornitza Stark reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306225; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1.<O<# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13257 PLOD2 Zornitza Stark Marked gene: PLOD2 as ready
Mendeliome v0.13257 PLOD2 Zornitza Stark Gene: plod2 has been classified as Green List (High Evidence).
Mendeliome v0.13257 PLOD2 Zornitza Stark Phenotypes for gene: PLOD2 were changed from to Bruck syndrome 2, MIM# 609220
Mendeliome v0.13256 PLOD2 Zornitza Stark Publications for gene: PLOD2 were set to
Mendeliome v0.13255 PLOD2 Zornitza Stark Mode of inheritance for gene: PLOD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13254 PLOD2 Zornitza Stark reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM# 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.337 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Ataxia v0.337 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Mendeliome v0.13254 PMFBP1 Zornitza Stark Marked gene: PMFBP1 as ready
Mendeliome v0.13254 PMFBP1 Zornitza Stark Gene: pmfbp1 has been classified as Green List (High Evidence).
Mendeliome v0.13254 PMFBP1 Zornitza Stark Phenotypes for gene: PMFBP1 were changed from to Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394
Mendeliome v0.13253 PMFBP1 Zornitza Stark Publications for gene: PMFBP1 were set to
Mendeliome v0.13252 PMFBP1 Zornitza Stark Mode of inheritance for gene: PMFBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13251 PMFBP1 Zornitza Stark reviewed gene: PMFBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33484382, 33452591, 32285443; Phenotypes: Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.337 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Ataxia v0.337 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Autosomal recessive spinocerebellar ataxia 2, 213200 to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Mendeliome v0.13251 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Mendeliome v0.13251 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Ataxia v0.336 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Ataxia v0.335 PMPCA Zornitza Stark reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13251 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Mendeliome v0.13250 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Ataxia v0.335 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. to Autosomal recessive spinocerebellar ataxia 2, 213200
Mendeliome v0.13249 PMPCA Zornitza Stark Mode of inheritance for gene: PMPCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13248 PMPCA Zornitza Stark reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13248 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Mendeliome v0.13248 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Mendeliome v0.13248 PMPCB Zornitza Stark Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Mendeliome v0.13247 PMPCB Zornitza Stark Publications for gene: PMPCB were set to
Mendeliome v0.13246 PMPCB Zornitza Stark Mode of inheritance for gene: PMPCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13245 PMPCB Zornitza Stark changed review comment from: Progressive disorder, includes ataxia. Four unrelated families reported.; to: Progressive disorder. Four unrelated families reported.
Mendeliome v0.13245 PNPO Zornitza Stark Marked gene: PNPO as ready
Mendeliome v0.13245 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Mendeliome v0.13245 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Mendeliome v0.13244 PNPO Zornitza Stark Publications for gene: PNPO were set to
Mendeliome v0.13243 PNPO Zornitza Stark Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13242 PNPO Zornitza Stark reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 34769443, 33981986, 33748042, 32888189; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13242 PODXL Zornitza Stark Marked gene: PODXL as ready
Mendeliome v0.13242 PODXL Zornitza Stark Gene: podxl has been classified as Green List (High Evidence).
Mendeliome v0.13242 PODXL Zornitza Stark Phenotypes for gene: PODXL were changed from to Nephrotic syndrome, MONDO:0005377, PODXL-related
Mendeliome v0.13241 PODXL Zornitza Stark Publications for gene: PODXL were set to
Mendeliome v0.13240 PODXL Zornitza Stark Mode of inheritance for gene: PODXL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13239 PODXL Zornitza Stark reviewed gene: PODXL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30523047, 29244787, 28117080, 24048372; Phenotypes: Nephrotic syndrome, MONDO:0005377, PODXL-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13239 POFUT1 Zornitza Stark Marked gene: POFUT1 as ready
Mendeliome v0.13239 POFUT1 Zornitza Stark Gene: pofut1 has been classified as Green List (High Evidence).
Mendeliome v0.13239 POFUT1 Zornitza Stark Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)
Mendeliome v0.13238 POFUT1 Zornitza Stark Publications for gene: POFUT1 were set to
Mendeliome v0.13237 POFUT1 Zornitza Stark Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13236 POLG Zornitza Stark Marked gene: POLG as ready
Mendeliome v0.13236 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Mendeliome v0.13236 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640
Mendeliome v0.13235 POLG Zornitza Stark Publications for gene: POLG were set to
Mendeliome v0.13234 POLG Zornitza Stark commented on gene: POLG: Reviewed in PMID 30451971
Mendeliome v0.13234 POLG Zornitza Stark edited their review of gene: POLG: Changed publications: 30451971
Mendeliome v0.13234 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13233 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13233 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Mendeliome v0.13233 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Mendeliome v0.13233 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76 617123
Mendeliome v0.13232 POMGNT1 Zornitza Stark Publications for gene: POMGNT1 were set to
Mendeliome v0.13231 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13230 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613, 30961548, 30937090; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135, Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13230 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Mendeliome v0.13230 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Mendeliome v0.13230 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135
Mendeliome v0.13229 POMGNT2 Zornitza Stark Publications for gene: POMGNT2 were set to
Mendeliome v0.13228 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.102 POMK Zornitza Stark Marked gene: POMK as ready
Muscular dystrophy and myopathy_Paediatric v0.102 POMK Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
Mendeliome v0.13227 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34301702, 27066570, 26060116, 22958903; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.102 POMK Zornitza Stark Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094
Mendeliome v0.13227 POMK Zornitza Stark Marked gene: POMK as ready
Mendeliome v0.13227 POMK Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.101 POMK Zornitza Stark Publications for gene: POMK were set to
Muscular dystrophy and myopathy_Paediatric v0.100 POMK Zornitza Stark Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.99 POMK Zornitza Stark reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13227 POMK Zornitza Stark Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094
Mendeliome v0.13226 POMK Zornitza Stark Publications for gene: POMK were set to
Mendeliome v0.13225 POMK Zornitza Stark Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.44 RAX2 Zornitza Stark Marked gene: RAX2 as ready
Cone-rod Dystrophy v0.44 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Mendeliome v0.13224 POMK Zornitza Stark reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13224 RAX2 Zornitza Stark Marked gene: RAX2 as ready
Mendeliome v0.13224 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.44 RAX2 Zornitza Stark Phenotypes for gene: RAX2 were changed from Cone-rod dystrophy 11 to Cone-rod dystrophy 11, MIM# 610381
Cone-rod Dystrophy v0.43 RAX2 Zornitza Stark Publications for gene: RAX2 were set to 30679166
Mendeliome v0.13224 RAX2 Zornitza Stark Phenotypes for gene: RAX2 were changed from to Cone-rod dystrophy 11, MIM# 610381
Cone-rod Dystrophy v0.42 RAX2 Zornitza Stark Mode of inheritance for gene: RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.41 RAX2 Zornitza Stark reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028672, 25789692, 30607024; Phenotypes: Cone-rod dystrophy 11, MIM# 610381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13223 RAX2 Zornitza Stark Publications for gene: RAX2 were set to
Mendeliome v0.13222 RAX2 Zornitza Stark Mode of inheritance for gene: RAX2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13221 RAX2 Zornitza Stark reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028672, 25789692, 30607024; Phenotypes: Cone-rod dystrophy 11, MIM# 610381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13221 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Mendeliome v0.13221 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Mendeliome v0.13221 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351; 29777155; 33129895
Hydrops fetalis v0.275 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Hydrops fetalis v0.275 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Hydrops fetalis v0.275 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to Noonan syndrome #163950
Hydrops fetalis v0.274 PTPN11 Zornitza Stark Publications for gene: PTPN11 were set to
Hydrops fetalis v0.273 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.272 PMM2 Zornitza Stark edited their review of gene: PMM2: Changed rating: GREEN
Hydrops fetalis v0.272 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Hydrops fetalis v0.272 PMM2 Zornitza Stark Added comment: Comment when marking as ready: Multiple reports of hydrops, reviewed in PMID 31420886
Hydrops fetalis v0.272 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.272 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia, MIM# 212065
Hydrops fetalis v0.271 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Hydrops fetalis v0.270 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.269 PIEZO1 Zornitza Stark Marked gene: PIEZO1 as ready
Hydrops fetalis v0.269 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.269 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from to Lymphatic malformation 6, MIM# 616843
Hydrops fetalis v0.268 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to
Hydrops fetalis v0.267 PIEZO1 Zornitza Stark Mode of inheritance for gene: PIEZO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13220 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Mendeliome v0.13220 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Mendeliome v0.13220 PDX1 Zornitza Stark Phenotypes for gene: PDX1 were changed from to Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD)
Mendeliome v0.13219 PDX1 Zornitza Stark Publications for gene: PDX1 were set to
Mendeliome v0.13218 PDX1 Zornitza Stark Mode of inheritance for gene: PDX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13217 PDX1 Zornitza Stark Mode of inheritance for gene: PDX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13216 PDP1 Zornitza Stark Publications for gene: PDP1 were set to 15855260
Mendeliome v0.13215 PDP1 Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392110, 19184109, 15855260; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency - MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13215 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Mendeliome v0.13215 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Mendeliome v0.13215 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency - MIM#608782
Mendeliome v0.13214 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Mendeliome v0.13213 PDP1 Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13212 PDHB Zornitza Stark Marked gene: PDHB as ready
Mendeliome v0.13212 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Mendeliome v0.13212 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency - MIM#614111
Mendeliome v0.13211 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.799 FDX2 Zornitza Stark Marked gene: FDX2 as ready
Mitochondrial disease v0.799 FDX2 Zornitza Stark Gene: fdx2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.799 FDX2 Zornitza Stark Phenotypes for gene: FDX2 were changed from to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900; inborn mitochondrial myopathy MONDO:0009637
Mitochondrial disease v0.798 FDX2 Zornitza Stark Publications for gene: FDX2 were set to
Mitochondrial disease v0.797 FDX2 Zornitza Stark Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.796 FDX2 Zornitza Stark commented on gene: FDX2: 6 apparently unrelated families with 3 different homozygous variants (c.1A>T; p.Pro144Leu; p.Met4Ile) with a rhabdomyolysis/mitochondrial myopathy phenotype. Molecular investigation of patient cells demonstrates mitochondrial dysfunction. Only 2 families with p.Pro144Leu have been reported with the additional features of optic atrophy and reversible leukoencephalopathy. The phenotype reported in OMIM is mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, but there is limited evidence that optic atrophy and leukoencephalopathy are prominent features of the phenotype.
Mitochondrial disease v0.796 FDX2 Zornitza Stark reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900, inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.15 FDFT1 Zornitza Stark Marked gene: FDFT1 as ready
Miscellaneous Metabolic Disorders v1.15 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.15 FDFT1 Zornitza Stark Classified gene: FDFT1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.15 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.14 FDFT1 Zornitza Stark gene: FDFT1 was added
gene: FDFT1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDFT1 were set to 29909962
Phenotypes for gene: FDFT1 were set to squalene synthase deficiency MONDO:0032566
Review for gene: FDFT1 was set to GREEN
Added comment: Rare disorder of cholesterol biosynthesis, similar to Smith-Lemli-Opitz syndrome. Only 3 individuals with squalene synthase deficiency from 2 families with homozygous/compound heterozygous variants reported. Metabolite profiles from affected individuals suggested a defect at the level of squalene synthase. Reduced protein expression in patient cells.
Sources: Expert Review
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.117 RSPO1 Zornitza Stark Marked gene: RSPO1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.117 RSPO1 Zornitza Stark Gene: rspo1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.117 RSPO1 Zornitza Stark Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644
Palmoplantar Keratoderma and Erythrokeratoderma v0.116 RSPO1 Zornitza Stark Publications for gene: RSPO1 were set to
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Palmoplantar Keratoderma and Erythrokeratoderma v0.115 RSPO1 Zornitza Stark Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.251 RSPO1 Zornitza Stark Marked gene: RSPO1 as ready
Differences of Sex Development v0.251 RSPO1 Zornitza Stark Gene: rspo1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.251 RSPO1 Zornitza Stark Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644
Differences of Sex Development v0.250 RSPO1 Zornitza Stark Publications for gene: RSPO1 were set to
Differences of Sex Development v0.249 RSPO1 Zornitza Stark Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13210 RSPO1 Zornitza Stark Marked gene: RSPO1 as ready
Mendeliome v0.13210 RSPO1 Zornitza Stark Gene: rspo1 has been classified as Green List (High Evidence).
Mendeliome v0.13210 RSPO1 Zornitza Stark Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644
Mendeliome v0.13209 RSPO1 Zornitza Stark Publications for gene: RSPO1 were set to
Mendeliome v0.13208 RSPO1 Zornitza Stark Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13207 FBRSL1 Zornitza Stark Phenotypes for gene: FBRSL1 were changed from syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome to syndromic disease MONDO:0002254, FBRSL1-related; Malformation and intellectual disability syndrome
Mendeliome v0.13206 FAT1 Zornitza Stark Phenotypes for gene: FAT1 were changed from syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254, FAT1-related; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Mendeliome v0.13205 FAT1 Zornitza Stark reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease MONDO:0002254, FAT1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.795 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mendeliome v0.13205 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mitochondrial disease v0.794 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to
Mitochondrial disease v0.793 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.792 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: Combined oxidative phosphorylation deficiency 44, MIM# 618855, FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13204 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.135 FASLG Zornitza Stark Marked gene: FASLG as ready
Disorders of immune dysregulation v0.135 FASLG Zornitza Stark Gene: faslg has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.135 FASLG Zornitza Stark Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
Disorders of immune dysregulation v0.134 FASLG Zornitza Stark Publications for gene: FASLG were set to
Disorders of immune dysregulation v0.133 FASLG Zornitza Stark Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.132 FASLG Zornitza Stark reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627752, 17605793, 19794494, 8787672, 22857792, 33356695, 26334989, 25451160; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13203 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Mendeliome v0.13203 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Mendeliome v0.13203 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Mendeliome v0.13202 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Mendeliome v0.13201 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13200 FAS Zornitza Stark edited their review of gene: FAS: Changed phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13200 FAS Zornitza Stark reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13200 PDE6H Zornitza Stark Marked gene: PDE6H as ready
Mendeliome v0.13200 PDE6H Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence).
Mendeliome v0.13200 PDE6H Zornitza Stark Phenotypes for gene: PDE6H were changed from to Achromatopsia 6 - MIM#610024
Mendeliome v0.13199 PDE6H Zornitza Stark Publications for gene: PDE6H were set to
Mendeliome v0.13198 PDE6H Zornitza Stark Mode of inheritance for gene: PDE6H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.792 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Mitochondrial disease v0.792 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.792 FARS2 Zornitza Stark Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882
Mitochondrial disease v0.791 FARS2 Zornitza Stark Publications for gene: FARS2 were set to
Mitochondrial disease v0.790 FARS2 Zornitza Stark Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.789 FARS2 Zornitza Stark reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.118 PDE6G Zornitza Stark Marked gene: PDE6G as ready
Retinitis pigmentosa v0.118 PDE6G Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.118 PDE6G Zornitza Stark Phenotypes for gene: PDE6G were changed from Retinitis pigmentosa 57, 613582 to Retinitis pigmentosa 57, MIM#613582
Retinitis pigmentosa v0.117 PDE6G Zornitza Stark Publications for gene: PDE6G were set to
Retinitis pigmentosa v0.116 PDE6G Zornitza Stark Classified gene: PDE6G as Amber List (moderate evidence)
Retinitis pigmentosa v0.116 PDE6G Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.115 PDE6G Zornitza Stark reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: None; Publications: 20655036; Phenotypes: Retinitis pigmentosa 57 - MIM#613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13197 PDE6G Zornitza Stark Marked gene: PDE6G as ready
Mendeliome v0.13197 PDE6G Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13197 PDE6G Zornitza Stark Phenotypes for gene: PDE6G were changed from to Retinitis pigmentosa 57 - MIM#613582
Mendeliome v0.13196 PDE6G Zornitza Stark Publications for gene: PDE6G were set to
Mendeliome v0.13195 PDE6G Zornitza Stark Mode of inheritance for gene: PDE6G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13194 PDE6G Zornitza Stark Classified gene: PDE6G as Amber List (moderate evidence)
Mendeliome v0.13194 PDE6G Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13193 PDE6C Zornitza Stark Marked gene: PDE6C as ready
Mendeliome v0.13193 PDE6C Zornitza Stark Gene: pde6c has been classified as Green List (High Evidence).
Mendeliome v0.13193 PDE6C Zornitza Stark Phenotypes for gene: PDE6C were changed from to Cone dystrophy 4, MIM# 613093; Achromatopsia-5
Mendeliome v0.13192 PDE6C Zornitza Stark Publications for gene: PDE6C were set to
Mendeliome v0.13191 PDE6C Zornitza Stark Mode of inheritance for gene: PDE6C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13190 PDE6C Zornitza Stark reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13190 PDE6B Zornitza Stark Marked gene: PDE6B as ready
Mendeliome v0.13190 PDE6B Zornitza Stark Gene: pde6b has been classified as Green List (High Evidence).
Mendeliome v0.13190 PDE6B Zornitza Stark Phenotypes for gene: PDE6B were changed from to Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500; Retinitis pigmentosa-40 - MIM#613801
Mendeliome v0.13189 PDE6B Zornitza Stark Publications for gene: PDE6B were set to
Mendeliome v0.13188 PDE6B Zornitza Stark Mode of inheritance for gene: PDE6B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.115 PDE6A Zornitza Stark Marked gene: PDE6A as ready
Retinitis pigmentosa v0.115 PDE6A Zornitza Stark Gene: pde6a has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.115 PDE6A Zornitza Stark Publications for gene: PDE6A were set to
Retinitis pigmentosa v0.114 PDE6A Zornitza Stark reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35033039, 34926197, 18849587, 21039428, 17110911, 7493036; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13187 PDE6A Zornitza Stark Marked gene: PDE6A as ready
Mendeliome v0.13187 PDE6A Zornitza Stark Gene: pde6a has been classified as Green List (High Evidence).
Mendeliome v0.13187 PDE6A Zornitza Stark Phenotypes for gene: PDE6A were changed from to Retinitis pigmentosa 43 - MIM#613810
Mendeliome v0.13186 PDE6A Zornitza Stark Publications for gene: PDE6A were set to
Mendeliome v0.13185 PDE6A Zornitza Stark Mode of inheritance for gene: PDE6A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13184 PDE6A Zornitza Stark reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35033039, 34926197, 18849587; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13184 PDE4D Zornitza Stark Marked gene: PDE4D as ready
Mendeliome v0.13184 PDE4D Zornitza Stark Gene: pde4d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4694 PDE4D Zornitza Stark Marked gene: PDE4D as ready
Intellectual disability syndromic and non-syndromic v0.4694 PDE4D Zornitza Stark Gene: pde4d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4694 PDE4D Zornitza Stark Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, MIM# 614613
Intellectual disability syndromic and non-syndromic v0.4693 PDE4D Zornitza Stark Publications for gene: PDE4D were set to
Intellectual disability syndromic and non-syndromic v0.4692 PDE4D Zornitza Stark Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4691 PDE4D Zornitza Stark reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464250, 22464252, 23033274, 24203977; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13184 PDE4D Zornitza Stark Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, MIM# 614613
Mendeliome v0.13183 PDE4D Zornitza Stark Publications for gene: PDE4D were set to
Mendeliome v0.13182 PDE4D Zornitza Stark Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13181 PDE4D Zornitza Stark reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464250, 22464252, 23033274, 24203977; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13181 PDE3A Zornitza Stark Marked gene: PDE3A as ready
Mendeliome v0.13181 PDE3A Zornitza Stark Gene: pde3a has been classified as Green List (High Evidence).
Mendeliome v0.13181 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from to Hypertension and brachydactyly syndrome - MIM#112410
Mendeliome v0.13180 PDE3A Zornitza Stark Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13179 PDE11A Zornitza Stark Marked gene: PDE11A as ready
Mendeliome v0.13179 PDE11A Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
Mendeliome v0.13179 PDE11A Zornitza Stark Phenotypes for gene: PDE11A were changed from to Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475
Mendeliome v0.13178 PDE11A Zornitza Stark Publications for gene: PDE11A were set to
Mendeliome v0.13177 PDE11A Zornitza Stark Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13176 PDE11A Zornitza Stark Classified gene: PDE11A as Red List (low evidence)
Mendeliome v0.13176 PDE11A Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
Mendeliome v0.13175 PDE11A Zornitza Stark Tag disputed tag was added to gene: PDE11A.
Retinitis pigmentosa v0.114 FAM161A Zornitza Stark Marked gene: FAM161A as ready
Retinitis pigmentosa v0.114 FAM161A Zornitza Stark Gene: fam161a has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.114 FAM161A Zornitza Stark Phenotypes for gene: FAM161A were changed from Retinitis pigmentosa 28, 606068 to Retinitis pigmentosa 28, 606068; Retinitis pigmentosa 28 MONDO:0011630
Retinitis pigmentosa v0.113 FAM161A Zornitza Stark Publications for gene: FAM161A were set to
Retinitis pigmentosa v0.112 FAM161A Zornitza Stark reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20705278, 20705279, 31236346, 24833722; Phenotypes: Retinitis pigmentosa 28 MONDO:0011630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13175 SHH Zornitza Stark Marked gene: SHH as ready
Mendeliome v0.13175 SHH Zornitza Stark Added comment: Comment when marking as ready: DISPUTED association with schizencephaly
Mendeliome v0.13175 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Mendeliome v0.13175 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Single median maxillary central incisor, MIM#147250
Mendeliome v0.13174 SHH Zornitza Stark Publications for gene: SHH were set to
Mendeliome v0.13173 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13172 FAM111B Zornitza Stark reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.165 SH3BP2 Zornitza Stark Marked gene: SH3BP2 as ready
Skeletal dysplasia v0.165 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.165 SH3BP2 Zornitza Stark Publications for gene: SH3BP2 were set to
Skeletal dysplasia v0.164 SH3BP2 Zornitza Stark Mode of pathogenicity for gene: SH3BP2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.163 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13172 SH3BP2 Zornitza Stark commented on gene: SH3BP2: Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment.
Mendeliome v0.13172 SH3BP2 Zornitza Stark Marked gene: SH3BP2 as ready
Mendeliome v0.13172 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Green List (High Evidence).
Mendeliome v0.13172 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from to Cherubism, MIM#118400
Mendeliome v0.13171 SH3BP2 Zornitza Stark Publications for gene: SH3BP2 were set to
Mendeliome v0.13170 SH3BP2 Zornitza Stark Mode of pathogenicity for gene: SH3BP2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.13169 SH3BP2 Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13169 SH3BP2 Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13168 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.22 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum to Leukodystrophy, hypomyelinating, 24 , MIM# 619851
Fetal anomalies v1.21 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4691 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder to Leukodystrophy, hypomyelinating, 24 , MIM# 619851
Intellectual disability syndromic and non-syndromic v0.4690 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13168 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder; Deafness, autosomal dominant 84 MIM#619810 to Leukodystrophy, hypomyelinating, 24 , MIM# 619851Deafness, autosomal dominant 84 MIM#619810
Mendeliome v0.13167 ATP11A Zornitza Stark edited their review of gene: ATP11A: Changed rating: AMBER
Mendeliome v0.13167 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.117 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder to Leukodystrophy, hypomyelinating, 24 , MIM# 619851
Hydrocephalus_Ventriculomegaly v0.116 ATP11A Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.115 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.261 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder to Leukodystrophy, hypomyelinating, 24 , MIM# 619851
Leukodystrophy v0.260 ATP11A Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.259 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.146 TLR8 Zornitza Stark Publications for gene: TLR8 were set to 34981838
Autoinflammatory Disorders v0.145 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Autoinflammatory Disorders v0.145 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.144 TLR8 Zornitza Stark reviewed gene: TLR8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33512449; Phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v1.14 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Combined Immunodeficiency v1.13 TLR8 Zornitza Stark edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Mendeliome v0.13167 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure; Autoinflammatory syndrome MONDO:0019751 to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Mendeliome v0.13166 TLR8 Zornitza Stark edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Bone Marrow Failure v1.14 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Bone Marrow Failure v1.13 TLR8 Zornitza Stark edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Mendeliome v0.13166 CEBPA Zornitza Stark Phenotypes for gene: CEBPA were changed from Leukemia, acute myeloid, somatic MIM#601626 to Leukaemia, acute myeloid, MIM#601626
Mendeliome v0.13165 CEBPA Zornitza Stark Publications for gene: CEBPA were set to
Mendeliome v0.13164 CEBPA Zornitza Stark Mode of inheritance for gene: CEBPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13163 CEBPA Zornitza Stark Classified gene: CEBPA as Green List (high evidence)
Mendeliome v0.13163 CEBPA Zornitza Stark Gene: cebpa has been classified as Green List (High Evidence).
Mendeliome v0.13162 CEBPA Zornitza Stark reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 15575056, 32430494, 31309983; Phenotypes: Leukaemia, acute myeloid , MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13162 CDKN2A Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13161 CDKN2A Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13160 CDKN2A Zornitza Stark Classified gene: CDKN2A as Green List (high evidence)
Mendeliome v0.13160 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Green List (High Evidence).
Mendeliome v0.13159 CDKN2A Zornitza Stark reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2} MIM#155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13159 CDKN1B Zornitza Stark Marked gene: CDKN1B as ready
Mendeliome v0.13159 CDKN1B Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
Mendeliome v0.13159 CD79B Zornitza Stark Phenotypes for gene: CD79B were changed from Agammaglobulinemia 6 MIM#612692 to Agammaglobulinaemia 6, MIM#612692
Mendeliome v0.13158 DNAJB11 Elena Savva reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34177435, 29706351, 29777155, 33129895; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome, Prenatal Polycystic Kidney Disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hydrops fetalis v0.266 PTPN11 Abhijit Kulkarni reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33686258, 33847422; Phenotypes: Noonan syndrome #163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.266 PMM2 Abhijit Kulkarni reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20638314, 21541725, 28954837; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.266 PIEZO1 Abhijit Kulkarni reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23581886, 34421994, 26333996; Phenotypes: lymphatic dysplasia (GLD) (OMIM #616843),; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13158 CD320 Zornitza Stark Mode of inheritance for gene: CD320 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13157 SLC12A3 Zornitza Stark Marked gene: SLC12A3 as ready
Mendeliome v0.13157 SLC12A3 Zornitza Stark Gene: slc12a3 has been classified as Green List (High Evidence).
Mendeliome v0.13157 SLC12A3 Zornitza Stark Phenotypes for gene: SLC12A3 were changed from to Gitelman syndrome, MIM# 263800
Mendeliome v0.13156 SLC12A3 Zornitza Stark Publications for gene: SLC12A3 were set to
Mendeliome v0.13155 SLC12A3 Zornitza Stark Mode of inheritance for gene: SLC12A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13154 SLC12A3 Zornitza Stark reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528245, 11102542; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13154 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to 18387594; 18950740; 18513680; 18950740; 19574260; 21725307; 33486889
Mendeliome v0.13153 CC2D2A Zornitza Stark changed review comment from: Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models.; to: Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models.

Note single family reported with isolated RP.
Mendeliome v0.13153 CC2D2A Zornitza Stark edited their review of gene: CC2D2A: Changed publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889, 30267408
Mendeliome v0.13153 CC2D2A Zornitza Stark edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845
Syndromic Retinopathy v0.192 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Syndromic Retinopathy v0.192 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.192 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9; Meckel syndrome 6; COACH syndrome to COACH syndrome, MIM#216360; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284; Retinitis pigmentosa 93, MIM# 619845
Syndromic Retinopathy v0.191 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Syndromic Retinopathy v0.190 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22241855, 27081510, 30267408; Phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.29 APOA1 Zornitza Stark Marked gene: APOA1 as ready
Dyslipidaemia v0.29 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Dyslipidaemia v0.29 APOA1 Zornitza Stark Phenotypes for gene: APOA1 were changed from Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836 to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836
Dyslipidaemia v0.28 APOA1 Zornitza Stark Phenotypes for gene: APOA1 were changed from Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia to Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836
Dyslipidaemia v0.27 APOA1 Zornitza Stark Publications for gene: APOA1 were set to
Dyslipidaemia v0.26 APOA1 Zornitza Stark reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16023124; Phenotypes: Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.21 PIDD1 Zornitza Stark Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827; Pachygyria; Lissencephaly; Abnormality of the corpus callosum
Fetal anomalies v1.20 PIDD1 Zornitza Stark edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827, Pachygyria, Lissencephaly, Abnormality of the corpus callosum
Intellectual disability syndromic and non-syndromic v0.4690 PIDD1 Zornitza Stark Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Intellectual disability syndromic and non-syndromic v0.4689 PIDD1 Zornitza Stark reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1565 PIDD1 Zornitza Stark reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1565 PIDD1 Zornitza Stark Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Mendeliome v0.13153 PIDD1 Zornitza Stark Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Mendeliome v0.13152 PIDD1 Zornitza Stark edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Lissencephaly and Band Heterotopia v1.7 PIDD1 Zornitza Stark Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Lissencephaly and Band Heterotopia v1.6 PIDD1 Zornitza Stark edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Mendeliome v0.13152 SLC12A1 Zornitza Stark Marked gene: SLC12A1 as ready
Mendeliome v0.13152 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Green List (High Evidence).
Mendeliome v0.13152 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from to Bartter syndrome, type 1, MIM# 601678
Mendeliome v0.13151 SLC12A1 Zornitza Stark Publications for gene: SLC12A1 were set to
Mendeliome v0.13150 SLC12A1 Zornitza Stark Mode of inheritance for gene: SLC12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13149 SLC12A1 Zornitza Stark reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13149 FGF23 Bryony Thompson Marked gene: FGF23 as ready
Mendeliome v0.13149 FGF23 Bryony Thompson Gene: fgf23 has been classified as Green List (High Evidence).
Mendeliome v0.13149 FGF23 Bryony Thompson Phenotypes for gene: FGF23 were changed from to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Mendeliome v0.13148 FGF23 Bryony Thompson Publications for gene: FGF23 were set to
Mendeliome v0.13147 PDX1 Krithika Murali reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326926, 10545531, 10720084, 12970316, 20009086, 19496967; Phenotypes: Pancreatic agenesis 1 - MIM#260370 (AR), MODY, type IV - MIM#606392(AD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13147 FGF23 Bryony Thompson Mode of pathogenicity for gene: FGF23 was changed from to Other
Mendeliome v0.13146 FGF23 Bryony Thompson Mode of inheritance for gene: FGF23 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13145 FGF5 Bryony Thompson Phenotypes for gene: FGF5 were changed from Hypertrichosis to hypertrichosis MONDO:0019280
Mendeliome v0.13144 FGF14 Bryony Thompson Phenotypes for gene: FGF14 were changed from Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227xia 27 MIM#609307 to Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227
Mendeliome v0.13143 FGF23 Bryony Thompson reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062477, 14966565, 15590700, 16151858, 16030159, 25378588, 34444516; Phenotypes: autosomal dominant hypophosphatemic rickets MONDO:0008660, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13143 PDP1 Krithika Murali reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15855260; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency - MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13143 PDHB Krithika Murali reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency - MIM#614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13143 FGF14 Bryony Thompson Publications for gene: FGF14 were set to
Mendeliome v0.13142 FGF14 Bryony Thompson Phenotypes for gene: FGF14 were changed from Spinocerebellar ataxia 27 MIM#609307 to Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227xia 27 MIM#609307
Mendeliome v0.13141 FGF14 Bryony Thompson edited their review of gene: FGF14: Added comment: 4 families with spinocerebellar ataxia and 7 families with episodic ataxia. Supporting animal models for both SCA and EA.; Changed publications: 12123606, 12489043, 15470364, 29253853, 30017992, 32112487, 32162847; Changed phenotypes: spinocerebellar ataxia type 27 MONDO:0012247, hereditary episodic ataxia MONDO:0016227; Set current diagnostic: yes
Mendeliome v0.13141 FGF10 Bryony Thompson Marked gene: FGF10 as ready
Mendeliome v0.13141 FGF10 Bryony Thompson Gene: fgf10 has been classified as Green List (High Evidence).
Mendeliome v0.13141 FGF10 Bryony Thompson Phenotypes for gene: FGF10 were changed from to congenital alveolar dysplasia due to FGF10 MONDO:0100090; acinar dysplasia caused by mutation in FGF10 MONDO:0600017
Mendeliome v0.13140 FGF10 Bryony Thompson Publications for gene: FGF10 were set to
Mendeliome v0.13139 FGF10 Bryony Thompson Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13138 FGF10 Bryony Thompson reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916808, 15654336, 16501574, 16630169, 17213838, 33967277, 30639323; Phenotypes: congenital alveolar dysplasia due to FGF10 MONDO:0100090, acinar dysplasia caused by mutation in FGF10 MONDO:0600017; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13138 FFAR4 Bryony Thompson Marked gene: FFAR4 as ready
Mendeliome v0.13138 FFAR4 Bryony Thompson Gene: ffar4 has been classified as Red List (Low Evidence).
Mendeliome v0.13138 FFAR4 Bryony Thompson Phenotypes for gene: FFAR4 were changed from to {Obesity, susceptibility to} MIM#607514
Mendeliome v0.13137 FDXR Bryony Thompson Deleted their review
Mendeliome v0.13137 FFAR4 Bryony Thompson Publications for gene: FFAR4 were set to
Mendeliome v0.13136 FDXR Bryony Thompson reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13136 FDXR Bryony Thompson Deleted their review
Mendeliome v0.13136 FFAR4 Bryony Thompson Classified gene: FFAR4 as Red List (low evidence)
Mendeliome v0.13136 FFAR4 Bryony Thompson Gene: ffar4 has been classified as Red List (Low Evidence).
Mendeliome v0.13135 FFAR4 Bryony Thompson reviewed gene: FFAR4: Rating: RED; Mode of pathogenicity: None; Publications: 22343897, 34043793; Phenotypes: {Obesity, susceptibility to} MIM#607514; Mode of inheritance: Unknown
Mendeliome v0.13135 FDXR Bryony Thompson Deleted their comment
Mendeliome v0.13135 FDX2 Bryony Thompson Marked gene: FDX2 as ready
Mendeliome v0.13135 FDX2 Bryony Thompson Gene: fdx2 has been classified as Green List (High Evidence).
Mendeliome v0.13135 FDX2 Bryony Thompson Phenotypes for gene: FDX2 were changed from to inborn mitochondrial myopathy MONDO:0009637
Mendeliome v0.13134 FDX2 Bryony Thompson Publications for gene: FDX2 were set to
Mendeliome v0.13133 FDX2 Bryony Thompson Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13132 FDX2 Bryony Thompson reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13132 FDFT1 Bryony Thompson Marked gene: FDFT1 as ready
Mendeliome v0.13132 FDFT1 Bryony Thompson Gene: fdft1 has been classified as Green List (High Evidence).
Mendeliome v0.13132 FDFT1 Bryony Thompson Phenotypes for gene: FDFT1 were changed from to squalene synthase deficiency MONDO:0032566
Mendeliome v0.13131 FDFT1 Bryony Thompson Publications for gene: FDFT1 were set to
Mendeliome v0.13130 FDFT1 Bryony Thompson Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13129 FDFT1 Bryony Thompson reviewed gene: FDFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: squalene synthase deficiency MONDO:0032566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13129 FBXO7 Bryony Thompson Marked gene: FBXO7 as ready
Mendeliome v0.13129 FBXO7 Bryony Thompson Gene: fbxo7 has been classified as Green List (High Evidence).
Mendeliome v0.13129 FBXO7 Bryony Thompson Phenotypes for gene: FBXO7 were changed from to parkinsonian-pyramidal syndrome MONDO:0009830
Mendeliome v0.13128 FBXO7 Bryony Thompson Publications for gene: FBXO7 were set to
Mendeliome v0.13127 FBXW7 Bryony Thompson Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome; Wilms tumour predisposition to neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058
Mendeliome v0.13126 FBXO7 Bryony Thompson Mode of inheritance for gene: FBXO7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13125 FBXO7 Bryony Thompson reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513678, 19038853, 34781237; Phenotypes: parkinsonian-pyramidal syndrome MONDO:0009830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 RSPO1 Belinda Chong reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Differences of Sex Development v0.248 RSPO1 Belinda Chong reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13125 RSPO1 Belinda Chong reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13125 FBP1 Bryony Thompson Marked gene: FBP1 as ready
Mendeliome v0.13125 FBP1 Bryony Thompson Gene: fbp1 has been classified as Green List (High Evidence).
Mendeliome v0.13125 FBP1 Bryony Thompson Phenotypes for gene: FBP1 were changed from to fructose-1,6-bisphosphatase deficiency MONDO:0009251
Mendeliome v0.13124 FBRSL1 Bryony Thompson Phenotypes for gene: FBRSL1 were changed from Malformation and intellectual disability syndrome to syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome
Mendeliome v0.13123 FBP1 Bryony Thompson Publications for gene: FBP1 were set to
Mendeliome v0.13122 FBP1 Bryony Thompson Mode of inheritance for gene: FBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13121 FBP1 Bryony Thompson changed review comment from: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.; to: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is a metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.
Mendeliome v0.13121 FBP1 Bryony Thompson reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9382095, 12126934, 27101822, 30858132; Phenotypes: fructose-1,6-bisphosphatase deficiency MONDO:0009251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4689 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835
Intellectual disability syndromic and non-syndromic v0.4688 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835
Phagocyte Defects v1.3 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Phagocyte Defects v1.2 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.789 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.788 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Genetic Epilepsy v0.1564 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835
Genetic Epilepsy v0.1563 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835
Mendeliome v0.13121 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mendeliome v0.13120 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Intellectual disability syndromic and non-syndromic v0.4688 GLRA2 Zornitza Stark Marked gene: GLRA2 as ready
Intellectual disability syndromic and non-syndromic v0.4688 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4688 GLRA2 Zornitza Stark Classified gene: GLRA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4688 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4687 GLRA2 Zornitza Stark gene: GLRA2 was added
gene: GLRA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GLRA2 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: GLRA2 were set to 26370147; 20479760; 35294868
Phenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076
Review for gene: GLRA2 was set to GREEN
Added comment: More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model.
Sources: Expert list
Mendeliome v0.13120 GLRA2 Zornitza Stark Marked gene: GLRA2 as ready
Mendeliome v0.13120 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Mendeliome v0.13120 GLRA2 Zornitza Stark Classified gene: GLRA2 as Green List (high evidence)
Mendeliome v0.13120 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Mendeliome v0.13119 GLRA2 Zornitza Stark gene: GLRA2 was added
gene: GLRA2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GLRA2 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: GLRA2 were set to 26370147; 20479760; 35294868
Phenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076
Review for gene: GLRA2 was set to GREEN
Added comment: More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model.
Sources: Expert list
Mendeliome v0.13118 FAT1 Bryony Thompson Phenotypes for gene: FAT1 were changed from facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Mendeliome v0.13117 FASTKD2 Bryony Thompson Marked gene: FASTKD2 as ready
Mendeliome v0.13117 FASTKD2 Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence).
Mendeliome v0.13117 FASTKD2 Bryony Thompson Phenotypes for gene: FASTKD2 were changed from to FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mendeliome v0.13116 FASTKD2 Bryony Thompson Publications for gene: FASTKD2 were set to
Intellectual disability syndromic and non-syndromic v0.4686 FASTKD2 Bryony Thompson Publications for gene: FASTKD2 were set to 18771761; 28499982
Intellectual disability syndromic and non-syndromic v0.4685 FASTKD2 Bryony Thompson Classified gene: FASTKD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4685 FASTKD2 Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4684 FASTKD2 Bryony Thompson reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1563 FASTKD2 Bryony Thompson Publications for gene: FASTKD2 were set to 18771761; 28499982
Genetic Epilepsy v0.1562 FASTKD2 Bryony Thompson Classified gene: FASTKD2 as Green List (high evidence)
Genetic Epilepsy v0.1562 FASTKD2 Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1561 FASTKD2 Bryony Thompson reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13115 FASTKD2 Bryony Thompson reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13115 FASLG Bryony Thompson Marked gene: FASLG as ready
Mendeliome v0.13115 FASLG Bryony Thompson Gene: faslg has been classified as Green List (High Evidence).
Mendeliome v0.13115 FASLG Bryony Thompson Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
Mendeliome v0.13114 FASLG Bryony Thompson Publications for gene: FASLG were set to
Mendeliome v0.13113 FASLG Bryony Thompson Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13112 FASLG Bryony Thompson reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627752, 17605793, 19794494, 8787672, 22857792, 33356695, 26334989, 25451160; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13112 PDHA1 Krithika Murali reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8504309; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170; 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 v0.13112 FAS Bryony Thompson Marked gene: FAS as ready
Mendeliome v0.13112 FAS Bryony Thompson Gene: fas has been classified as Green List (High Evidence).
Mendeliome v0.13112 FAS Bryony Thompson Phenotypes for gene: FAS were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
Mendeliome v0.13111 FAS Bryony Thompson Publications for gene: FAS were set to
Mendeliome v0.13110 FAS Bryony Thompson Mode of inheritance for gene: FAS was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13109 FARSB Bryony Thompson Marked gene: FARSB as ready
Mendeliome v0.13109 FARSB Bryony Thompson Gene: farsb has been classified as Green List (High Evidence).
Mendeliome v0.13109 FAS Bryony Thompson reviewed gene: FAS: Rating: ; Mode of pathogenicity: None; Publications: 7540117, 7539157, 15459302, 33995372, 34171534; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13109 FARSB Bryony Thompson Phenotypes for gene: FARSB were changed from to Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215
Mendeliome v0.13108 FARSB Bryony Thompson Publications for gene: FARSB were set to
Mendeliome v0.13107 FARSB Bryony Thompson Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13106 FARSB Bryony Thompson reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573043, 30014610, 29979980; Phenotypes: Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13106 FARS2 Bryony Thompson Marked gene: FARS2 as ready
Mendeliome v0.13106 FARS2 Bryony Thompson Gene: fars2 has been classified as Green List (High Evidence).
Mendeliome v0.13106 FARS2 Bryony Thompson Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882
Mendeliome v0.13105 FARS2 Bryony Thompson Publications for gene: FARS2 were set to
Mendeliome v0.13104 FARS2 Bryony Thompson Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13103 PDE6H Krithika Murali reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6 - MIM#610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13103 FARS2 Bryony Thompson reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13103 FAM58A Bryony Thompson Marked gene: FAM58A as ready
Mendeliome v0.13103 FAM58A Bryony Thompson Gene: fam58a has been classified as Green List (High Evidence).
Mendeliome v0.13103 FAM58A Bryony Thompson Phenotypes for gene: FAM58A were changed from to syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408
Mendeliome v0.13102 FAM58A Bryony Thompson Publications for gene: FAM58A were set to
Mendeliome v0.13101 PDE6G Krithika Murali reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: None; Publications: 20655036; Phenotypes: Retinitis pigmentosa 57 - MIM#613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13101 PDE6C Krithika Murali reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone dystrophy 4 - MIM#613093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13101 FAM58A Bryony Thompson Mode of inheritance for gene: FAM58A was changed from Unknown to Other
Mendeliome v0.13100 PDE6B Krithika Murali reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8394174, 8075643, 17044014, 7599633, 18854872; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500, Retinitis pigmentosa-40 - MIM#613801; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13100 PDE6A Krithika Murali reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21039428, 17110911, 7493036; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13100 FAM58A Bryony Thompson reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28322501, 8818947; Phenotypes: syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.13100 FAM161A Bryony Thompson Marked gene: FAM161A as ready
Mendeliome v0.13100 FAM161A Bryony Thompson Gene: fam161a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4684 PDE4D Krithika Murali reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24203977, 22464250; Phenotypes: Acrodysostosis 2, with or without hormone resistance - MIM#614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13100 PDE4D Krithika Murali reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24203977, 22464250; Phenotypes: Acrodysostosis 2, with or without hormone resistance-MIM#614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13100 PDE3A Krithika Murali reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertension and brachydactyly syndrome - MIM#112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13100 PDE11A Krithika Murali reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: 16767104, 18559625, 21047926, 17178847; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13100 FAM161A Bryony Thompson Phenotypes for gene: FAM161A were changed from to retinitis pigmentosa 28 MONDO:0011630
Mendeliome v0.13099 FAM161A Bryony Thompson Publications for gene: FAM161A were set to
Mendeliome v0.13098 FAM161A Bryony Thompson Mode of inheritance for gene: FAM161A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13097 FAM161A Bryony Thompson reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20705278, 20705279, 31236346, 24833722; Phenotypes: retinitis pigmentosa 28 MONDO:0011630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13097 FAM126A Bryony Thompson Marked gene: FAM126A as ready
Mendeliome v0.13097 FAM126A Bryony Thompson Gene: fam126a has been classified as Green List (High Evidence).
Mendeliome v0.13097 FAM126A Bryony Thompson Publications for gene: FAM126A were set to
Mendeliome v0.13096 SHH Samantha Ayres reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454, 12503095, 22791840, 19057928, 19533790; Phenotypes: Holoprosencephaly 3, MIM#142945, Microphthalmia with coloboma 5, MIM#611638, Schizencephaly, MIM#269160, Single median maxillary central incisor, MIM#147250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13096 FAM126A Bryony Thompson Phenotypes for gene: FAM126A were changed from to hypomyelinating leukodystrophy 5 MONDO:0012514
Mendeliome v0.13095 FAM126A Bryony Thompson reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16951682, 21911699, 23998934, 22749724; Phenotypes: hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13095 FAM126A Bryony Thompson Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 FAM111B Bryony Thompson Marked gene: FAM111B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 FAM111B Bryony Thompson Classified gene: FAM111B as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.113 FAM111B Bryony Thompson gene: FAM111B was added
gene: FAM111B was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111B were set to 24268661; 26471370; 26495788; 27406236
Phenotypes for gene: FAM111B were set to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Mode of pathogenicity for gene: FAM111B was set to Other
Review for gene: FAM111B was set to GREEN
gene: FAM111B was marked as current diagnostic
Added comment: >10 families/cases reported with fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. The condition is characterised by the skin findings of poikiloderma, hypohidrosis, hypotrichosis , mild lymphedema of the extremities, chronic erythematous and scaly skin lesions on the extremities, sclerosis of the digits, and mild palmoplantar keratoderma. Mechanism of disease is unknown, but is expected to be dominant-negative effect.
Sources: Literature
Mendeliome v0.13094 FAM111B Bryony Thompson Marked gene: FAM111B as ready
Mendeliome v0.13094 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Hair disorders v0.61 FAM111B Bryony Thompson Marked gene: FAM111B as ready
Hair disorders v0.61 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Mendeliome v0.13094 FAM111B Bryony Thompson Phenotypes for gene: FAM111B were changed from to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Mendeliome v0.13093 FAM111B Bryony Thompson Publications for gene: FAM111B were set to
Mendeliome v0.13092 FAM111B Bryony Thompson Mode of pathogenicity for gene: FAM111B was changed from to Other
Hair disorders v0.61 FAM111B Bryony Thompson Classified gene: FAM111B as Green List (high evidence)
Hair disorders v0.61 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Hair disorders v0.60 FAM111B Bryony Thompson gene: FAM111B was added
gene: FAM111B was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111B were set to 24268661; 26471370; 26495788; 27406236
Phenotypes for gene: FAM111B were set to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Mode of pathogenicity for gene: FAM111B was set to Other
Review for gene: FAM111B was set to GREEN
gene: FAM111B was marked as current diagnostic
Added comment: >10 families/cases reported with fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Hypotrichosis with sparse scalp hair, sparse or absent eyelashes and/or eyebrows is a prominent feature of the condition. Mechanism of disease is unknown, but is expected to be dominant-negative effect.
Sources: Literature
Mendeliome v0.13091 FAM111B Bryony Thompson Mode of inheritance for gene: FAM111B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13090 FAM111B Bryony Thompson edited their review of gene: FAM111B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13090 FAM111B Bryony Thompson reviewed gene: FAM111B: Rating: ; Mode of pathogenicity: Other; Publications: 24268661, 26471370, 26495788, 27406236; Phenotypes: hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310; Mode of inheritance: None; Current diagnostic: yes
Skeletal dysplasia v0.163 SH3BP2 Samantha Ayres reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381256, 22640988, 20301316, 22153076; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13090 FAM111A Bryony Thompson Marked gene: FAM111A as ready
Mendeliome v0.13090 FAM111A Bryony Thompson Gene: fam111a has been classified as Green List (High Evidence).
Mendeliome v0.13090 FAM111A Bryony Thompson Phenotypes for gene: FAM111A were changed from to autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Mendeliome v0.13089 FAM111A Bryony Thompson Publications for gene: FAM111A were set to
Mendeliome v0.13088 FAM111A Bryony Thompson Mode of pathogenicity for gene: FAM111A was changed from to Other
Mendeliome v0.13087 FAM111A Bryony Thompson Mode of inheritance for gene: FAM111A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13086 FAM111A Bryony Thompson reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23684011, 32996714, 32765931, 33010201; Phenotypes: autosomal dominant Kenny-Caffey syndrome MONDO:0007478; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13086 FADD Bryony Thompson Marked gene: FADD as ready
Mendeliome v0.13086 FADD Bryony Thompson Gene: fadd has been classified as Green List (High Evidence).
Mendeliome v0.13086 FADD Bryony Thompson Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408
Mendeliome v0.13085 FAH Bryony Thompson Marked gene: FAH as ready
Mendeliome v0.13085 FAH Bryony Thompson Gene: fah has been classified as Green List (High Evidence).
Mendeliome v0.13085 FADD Bryony Thompson Publications for gene: FADD were set to
Mendeliome v0.13084 FAH Bryony Thompson Phenotypes for gene: FAH were changed from to Tyrosinemia type I MONDO:0010161
Mendeliome v0.13083 FAH Bryony Thompson Publications for gene: FAH were set to
Mendeliome v0.13082 FAH Bryony Thompson Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13081 FAH Bryony Thompson reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8253378, 1401056, 8364576, 8318997, 25681080; Phenotypes: Tyrosinemia type I MONDO:0010161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13081 FADD Bryony Thompson Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.36 FAH Bryony Thompson Phenotypes for gene: FAH were changed from to Tyrosinemia, type I, MIM# 276700
Mendeliome v0.13080 FADD Bryony Thompson reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21109225, 25794656, 32350755, 32971525; Phenotypes: FADD-related immunodeficiency MONDO:0013408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13080 SH3BP2 Samantha Ayres reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381256, 22640988, 20301316, 22153076; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypophosphataemia or rickets v0.35 FAH Bryony Thompson Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.132 FADD Bryony Thompson Marked gene: FADD as ready
Disorders of immune dysregulation v0.132 FADD Bryony Thompson Gene: fadd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.132 FADD Bryony Thompson Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408
Disorders of immune dysregulation v0.131 FADD Bryony Thompson Publications for gene: FADD were set to
Disorders of immune dysregulation v0.130 FADD Bryony Thompson Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.129 FADD Bryony Thompson reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21109225, 25794656, 32350755, 32971525; Phenotypes: FADD-related immunodeficiency MONDO:0013408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13080 F12 Bryony Thompson Marked gene: F12 as ready
Mendeliome v0.13080 F12 Bryony Thompson Gene: f12 has been classified as Green List (High Evidence).
Mendeliome v0.13080 F12 Bryony Thompson Phenotypes for gene: F12 were changed from to Hereditary angioedema type 3 MONDO:0012526
Mendeliome v0.13079 F12 Bryony Thompson Publications for gene: F12 were set to
Mendeliome v0.13078 POMP Zornitza Stark Marked gene: POMP as ready
Mendeliome v0.13078 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Mendeliome v0.13078 POMP Zornitza Stark Phenotypes for gene: POMP were changed from to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Proteasome-associated autoinflammatory syndrome 2, MIM# 618048
Mendeliome v0.13077 POMP Zornitza Stark Publications for gene: POMP were set to
Mendeliome v0.13076 POMP Zornitza Stark Mode of inheritance for gene: POMP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13075 POMP Zornitza Stark Tag 5'UTR tag was added to gene: POMP.
Mendeliome v0.13075 POMP Zornitza Stark reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20226437, 27503413, 29805043; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952, Proteasome-associated autoinflammatory syndrome 2, MIM# 618048; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13075 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Mendeliome v0.13075 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Mendeliome v0.13075 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
Mendeliome v0.13074 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13073 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
Mendeliome v0.13073 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Mendeliome v0.13073 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Mendeliome v0.13073 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
Mendeliome v0.13072 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13071 POMT2 Zornitza Stark edited their review of gene: POMT2: Changed 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
Mendeliome v0.13071 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
Mendeliome v0.13071 PPARA Zornitza Stark Marked gene: PPARA as ready
Mendeliome v0.13071 PPARA Zornitza Stark Gene: ppara has been classified as Red List (Low Evidence).
Mendeliome v0.13071 PPARA Zornitza Stark Phenotypes for gene: PPARA were changed from to {Hyperapobetalipoproteinemia, susceptibility to}
Mendeliome v0.13070 PPARA Zornitza Stark Mode of inheritance for gene: PPARA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13069 PPARA Zornitza Stark Classified gene: PPARA as Red List (low evidence)
Mendeliome v0.13069 PPARA Zornitza Stark Gene: ppara has been classified as Red List (Low Evidence).
Mendeliome v0.13068 PPARA Zornitza Stark reviewed gene: PPARA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hyperapobetalipoproteinemia, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13068 PPM1K Zornitza Stark Marked gene: PPM1K as ready
Mendeliome v0.13068 PPM1K Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
Mendeliome v0.13068 PPM1K Zornitza Stark Phenotypes for gene: PPM1K were changed from to Maple syrup urine disease, mild variant, MIM#615135
Mendeliome v0.13067 PPM1K Zornitza Stark Publications for gene: PPM1K were set to
Mendeliome v0.13066 PPM1K Zornitza Stark Mode of inheritance for gene: PPM1K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13065 PPM1K Zornitza Stark Classified gene: PPM1K as Red List (low evidence)
Mendeliome v0.13065 PPM1K Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
Mendeliome v0.13064 PPM1K Zornitza Stark reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: None; Publications: 23086801; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13064 PPOX Zornitza Stark Marked gene: PPOX as ready
Mendeliome v0.13064 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Mendeliome v0.13064 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from to Porphyria variegata , MIM#176200
Mendeliome v0.13063 PPOX Zornitza Stark Publications for gene: PPOX were set to
Mendeliome v0.13062 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13061 PPOX Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12357337, 32247286, 23324528, 27982422; Phenotypes: Porphyria variegata , MIM#176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4684 PPP1R15B Zornitza Stark Marked gene: PPP1R15B as ready
Intellectual disability syndromic and non-syndromic v0.4684 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4684 PPP1R15B Zornitza Stark Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Mendeliome v0.13061 PPP1R15B Zornitza Stark Marked gene: PPP1R15B as ready
Mendeliome v0.13061 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13061 SH2D1A Samantha Ayres reviewed gene: SH2D1A: Rating: ; Mode of pathogenicity: None; Publications: 6306053, 9771704, 11049992, 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13061 SGCG Samantha Ayres reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821, 8923014, 7481775, 8968757, 27708273; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13061 CFHR5 Ain Roesley Marked gene: CFHR5 as ready
Mendeliome v0.13061 CFHR5 Ain Roesley Gene: cfhr5 has been classified as Green List (High Evidence).
Mendeliome v0.13061 CFHR5 Ain Roesley Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809
Mendeliome v0.13060 CFHR5 Ain Roesley Publications for gene: CFHR5 were set to
Mendeliome v0.13060 CFHR5 Ain Roesley Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13059 CFHR5 Ain Roesley reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM#614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13059 CFH Ain Roesley Marked gene: CFH as ready
Mendeliome v0.13059 CFH Ain Roesley Gene: cfh has been classified as Green List (High Evidence).
Mendeliome v0.13059 CFH Ain Roesley Phenotypes for gene: CFH were changed from to Basal laminar drusen MIM#126700; Complement factor H deficiency MIM#609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400
Mendeliome v0.13059 CFH Ain Roesley Publications for gene: CFH were set to
Mendeliome v0.13059 CFH Ain Roesley Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13058 CFH Ain Roesley reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27572114, 25814826, 20301541, 9312129, 10803850, 29888403, 30905644; Phenotypes: Basal laminar drusen MIM#126700, Complement factor H deficiency MIM#609814, {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4683 PPP1R15B Zornitza Stark Publications for gene: PPP1R15B were set to
Mendeliome v0.13058 PPP1R15B Zornitza Stark Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Intellectual disability syndromic and non-syndromic v0.4682 PPP1R15B Zornitza Stark Mode of inheritance for gene: PPP1R15B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13057 PPP1R15B Zornitza Stark Publications for gene: PPP1R15B were set to
Intellectual disability syndromic and non-syndromic v0.4682 PPP1R15B Zornitza Stark Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13056 PPP1R15B Zornitza Stark Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4681 PPP1R15B Zornitza Stark Classified gene: PPP1R15B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4681 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13055 PPP1R15B Zornitza Stark Classified gene: PPP1R15B as Amber List (moderate evidence)
Mendeliome v0.13055 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4680 PPP1R15B Zornitza Stark reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13054 PPP1R15B Zornitza Stark reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13054 PPP1R3A Zornitza Stark Marked gene: PPP1R3A as ready
Mendeliome v0.13054 PPP1R3A Zornitza Stark Gene: ppp1r3a has been classified as Red List (Low Evidence).
Mendeliome v0.13054 PPP1R3A Zornitza Stark Phenotypes for gene: PPP1R3A were changed from to Insulin resistance, severe, digenic 125853
Mendeliome v0.13053 PPP1R3A Zornitza Stark Publications for gene: PPP1R3A were set to
Mendeliome v0.13052 PPP1R3A Zornitza Stark Mode of inheritance for gene: PPP1R3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13051 PPP1R3A Zornitza Stark Classified gene: PPP1R3A as Red List (low evidence)
Mendeliome v0.13051 PPP1R3A Zornitza Stark Gene: ppp1r3a has been classified as Red List (Low Evidence).
Mendeliome v0.13050 PPP1R3A Zornitza Stark reviewed gene: PPP1R3A: Rating: RED; Mode of pathogenicity: None; Publications: 29948331, 12118251, 18232732; Phenotypes: Insulin resistance, severe, digenic 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa v0.112 PRCD Zornitza Stark Marked gene: PRCD as ready
Retinitis pigmentosa v0.112 PRCD Zornitza Stark Gene: prcd has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.112 PRCD Zornitza Stark Phenotypes for gene: PRCD were changed from Retinitis pigmentosa 36, 610599 to Retinitis pigmentosa 36, MIM# 610599
Retinitis pigmentosa v0.111 PRCD Zornitza Stark Publications for gene: PRCD were set to
Retinitis pigmentosa v0.110 PRCD Zornitza Stark reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16938425, 20507925, 33087780, 31640229, 31189593, 26497376; Phenotypes: Retinitis pigmentosa 36, MIM# 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13050 PRCD Zornitza Stark Marked gene: PRCD as ready
Mendeliome v0.13050 PRCD Zornitza Stark Gene: prcd has been classified as Green List (High Evidence).
Mendeliome v0.13050 PRCD Zornitza Stark Phenotypes for gene: PRCD were changed from to Retinitis pigmentosa 36, MIM# 610599
Mendeliome v0.13049 PRCD Zornitza Stark Publications for gene: PRCD were set to
Mendeliome v0.13048 PRCD Zornitza Stark Mode of inheritance for gene: PRCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13047 PRCD Zornitza Stark reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16938425, 20507925, 33087780, 31640229, 31189593, 26497376; Phenotypes: Retinitis pigmentosa 36, MIM# 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13047 PRDM16 Zornitza Stark Marked gene: PRDM16 as ready
Mendeliome v0.13047 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13047 PRDM16 Zornitza Stark Phenotypes for gene: PRDM16 were changed from to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Mendeliome v0.13046 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to
Mendeliome v0.13045 PRDM16 Zornitza Stark Mode of inheritance for gene: PRDM16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13044 PRDM16 Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence)
Mendeliome v0.13044 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13043 PRDM16 Zornitza Stark reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: None; Publications: 23768516, 29367541, 34915728, 31965688, 29367541; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13043 CFD Ain Roesley Marked gene: CFD as ready
Mendeliome v0.13043 CFD Ain Roesley Gene: cfd has been classified as Green List (High Evidence).
Mendeliome v0.13043 CFD Ain Roesley Phenotypes for gene: CFD were changed from to Complement factor D deficiency MIM#613912
Mendeliome v0.13042 CFD Ain Roesley Publications for gene: CFD were set to
Mendeliome v0.13041 CFD Ain Roesley Mode of inheritance for gene: CFD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13040 CFD Ain Roesley reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency MIM#613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13040 CEP78 Ain Roesley Marked gene: CEP78 as ready
Mendeliome v0.13040 CEP78 Ain Roesley Gene: cep78 has been classified as Green List (High Evidence).
Mendeliome v0.13040 CEP78 Ain Roesley Phenotypes for gene: CEP78 were changed from to Cone-rod dystrophy and hearing loss MIM#617236
Mendeliome v0.13039 CEP78 Ain Roesley Publications for gene: CEP78 were set to
Mendeliome v0.13039 CEP78 Ain Roesley Mode of inheritance for gene: CEP78 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13038 CEP78 Ain Roesley reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 28005958, 27588451, 27588452, 27627988; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13038 CEBPA Ain Roesley Marked gene: CEBPA as ready
Mendeliome v0.13038 CEBPA Ain Roesley Gene: cebpa has been classified as Red List (Low Evidence).
Mendeliome v0.13038 CEBPA Ain Roesley Phenotypes for gene: CEBPA were changed from to Leukemia, acute myeloid, somatic MIM#601626
Mendeliome v0.13038 CEBPA Ain Roesley Classified gene: CEBPA as Red List (low evidence)
Mendeliome v0.13038 CEBPA Ain Roesley Gene: cebpa has been classified as Red List (Low Evidence).
Mendeliome v0.13037 CEBPA Ain Roesley reviewed gene: CEBPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute myeloid, somatic MIM#601626; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13037 CEACAM16 Ain Roesley Marked gene: CEACAM16 as ready
Mendeliome v0.13037 CEACAM16 Ain Roesley Gene: ceacam16 has been classified as Green List (High Evidence).
Mendeliome v0.13037 CEACAM16 Ain Roesley Publications for gene: CEACAM16 were set to
Mendeliome v0.13037 CEACAM16 Ain Roesley Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
Mendeliome v0.13037 CEACAM16 Ain Roesley Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13036 CEACAM16 Ain Roesley reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 21368133, 22544735, 29703829, 25589040, 31249509, 30514912; Phenotypes: Deafness, autosomal dominant 4B, MIM# 614614, Deafness, autosomal recessive 113, MIM# 618410; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13036 CDKN2A Ain Roesley Marked gene: CDKN2A as ready
Mendeliome v0.13036 CDKN2A Ain Roesley Gene: cdkn2a has been classified as Red List (Low Evidence).
Mendeliome v0.13036 CDKN2A Ain Roesley Phenotypes for gene: CDKN2A were changed from to {Melanoma and neural system tumor syndrome} MIM#155755; {Melanoma, cutaneous malignant, 2} MIM#155601; {Melanoma-pancreatic cancer syndrome} MIM#606719
Mendeliome v0.13036 CDKN2A Ain Roesley Classified gene: CDKN2A as Red List (low evidence)
Mendeliome v0.13036 CDKN2A Ain Roesley Gene: cdkn2a has been classified as Red List (Low Evidence).
Mendeliome v0.13035 CDKN2A Ain Roesley reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma and neural system tumor syndrome} MIM#155755, {Melanoma, cutaneous malignant, 2} MIM#155601, {Melanoma-pancreatic cancer syndrome} MIM#606719; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13035 CDKN1B Ain Roesley Phenotypes for gene: CDKN1B were changed from to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Mendeliome v0.13034 CDKN1B Ain Roesley Publications for gene: CDKN1B were set to
Mendeliome v0.13034 CDKN1B Ain Roesley Mode of inheritance for gene: CDKN1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13033 CDKN1B Ain Roesley reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24819502, 17030811, 23555276; Phenotypes: Multiple endocrine neoplasia type 4, MEN4, OMIM #610755; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13033 CDK4 Ain Roesley Marked gene: CDK4 as ready
Mendeliome v0.13033 CDK4 Ain Roesley Gene: cdk4 has been classified as Red List (Low Evidence).
Mendeliome v0.13033 CDK4 Ain Roesley Phenotypes for gene: CDK4 were changed from to {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v0.13032 CDK4 Ain Roesley Classified gene: CDK4 as Red List (low evidence)
Mendeliome v0.13032 CDK4 Ain Roesley Gene: cdk4 has been classified as Red List (Low Evidence).
Mendeliome v0.13031 CDK4 Ain Roesley reviewed gene: CDK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 3} MIM#609048; Mode of inheritance: None; Current diagnostic: yes
Hydrops fetalis v0.266 CDK10 Ain Roesley Marked gene: CDK10 as ready
Hydrops fetalis v0.266 CDK10 Ain Roesley Gene: cdk10 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.266 CDK10 Ain Roesley Classified gene: CDK10 as Amber List (moderate evidence)
Hydrops fetalis v0.266 CDK10 Ain Roesley Gene: cdk10 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.265 CDK10 Ain Roesley gene: CDK10 was added
gene: CDK10 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 28886341; 34974531
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome MIM#617694
Review for gene: CDK10 was set to AMBER
gene: CDK10 was marked as current diagnostic
Added comment: 1 out of 6 families reported hydrops
Sources: Literature
Mendeliome v0.13031 CDK10 Ain Roesley changed review comment from: >5 families; to: 6 families thus far
Fetal anomalies v1.20 CDK10 Ain Roesley Marked gene: CDK10 as ready
Fetal anomalies v1.20 CDK10 Ain Roesley Gene: cdk10 has been classified as Green List (High Evidence).
Fetal anomalies v1.20 CDK10 Ain Roesley Classified gene: CDK10 as Green List (high evidence)
Fetal anomalies v1.20 CDK10 Ain Roesley Gene: cdk10 has been classified as Green List (High Evidence).
Fetal anomalies v1.19 CDK10 Ain Roesley gene: CDK10 was added
gene: CDK10 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 28886341; 34974531
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome MIM#617694
Review for gene: CDK10 was set to GREEN
gene: CDK10 was marked as current diagnostic
Added comment: 6 families reported

1x with IUGR, 1x hydrocephalus and 1x with fetal hydrops, hydrocephalus, multicystic, dysplastic kidneys, lung hypoplasia, cardiomyopathy, retrognathia

Small birth weight/sizes reported in all
Sources: Literature
Mendeliome v0.13031 CDHR1 Ain Roesley Tag SV/CNV tag was added to gene: CDHR1.
Mendeliome v0.13031 CDK10 Ain Roesley Marked gene: CDK10 as ready
Mendeliome v0.13031 CDK10 Ain Roesley Gene: cdk10 has been classified as Green List (High Evidence).
Mendeliome v0.13031 CDK10 Ain Roesley Phenotypes for gene: CDK10 were changed from to Al Kaissi syndrome MIM#617694
Mendeliome v0.13031 CDK10 Ain Roesley Publications for gene: CDK10 were set to
Mendeliome v0.13031 CDK10 Ain Roesley Mode of inheritance for gene: CDK10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13030 CDK10 Ain Roesley reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28886341, 34974531; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13030 CDHR1 Ain Roesley Marked gene: CDHR1 as ready
Mendeliome v0.13030 CDHR1 Ain Roesley Gene: cdhr1 has been classified as Green List (High Evidence).
Mendeliome v0.13030 CDHR1 Ain Roesley Phenotypes for gene: CDHR1 were changed from to Cone-rod dystrophy 15 MIM#613660; Retinitis pigmentosa 65 MIM#613660
Mendeliome v0.13029 CDHR1 Ain Roesley Publications for gene: CDHR1 were set to
Mendeliome v0.13029 CDHR1 Ain Roesley Mode of inheritance for gene: CDHR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13028 CDHR1 Ain Roesley reviewed gene: CDHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20805371, 20087419, 34926197, 32277948, 32783370, 31387115, 32681094; Phenotypes: Cone-rod dystrophy 15 MIM#613660, Retinitis pigmentosa 65 MIM#613660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13028 CDC73 Ain Roesley Marked gene: CDC73 as ready
Mendeliome v0.13028 CDC73 Ain Roesley Gene: cdc73 has been classified as Green List (High Evidence).
Mendeliome v0.13028 CDC73 Ain Roesley Publications for gene: CDC73 were set to
Mendeliome v0.13028 CDC73 Ain Roesley Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Mendeliome v0.13028 CDC73 Ain Roesley Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13027 CDC73 Ain Roesley reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434154; Phenotypes: Hyperparathyroidism-jaw tumour syndrome, MIM# 145001, Hyperparathyroidism, familial primary, MIM# 145000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13027 CDC42 Ain Roesley Phenotypes for gene: CDC42 were changed from Takenouchi-Kosaki syndrome, MIM#616737 to Takenouchi-Kosaki syndrome, MIM#616737
Mendeliome v0.13026 CDC42 Ain Roesley Publications for gene: CDC42 were set to 29394990; 31601675; 32303876; 32231661
Mendeliome v0.13026 CDC42 Ain Roesley Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, MIM#616737
Mendeliome v0.13025 CDC42 Ain Roesley Publications for gene: CDC42 were set to
Mendeliome v0.13025 CDC42 Ain Roesley Marked gene: CDC42 as ready
Mendeliome v0.13025 CDC42 Ain Roesley Gene: cdc42 has been classified as Green List (High Evidence).
Mendeliome v0.13025 CDC42 Ain Roesley Mode of inheritance for gene: CDC42 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13024 CDC42 Ain Roesley reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: None; Publications: 29394990, 31601675, 32303876, 32231661; Phenotypes: Takenouchi-Kosaki syndrome, MIM#616737; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13024 CDC14A Ain Roesley Marked gene: CDC14A as ready
Mendeliome v0.13024 CDC14A Ain Roesley Gene: cdc14a has been classified as Green List (High Evidence).
Mendeliome v0.13024 CDC14A Ain Roesley Phenotypes for gene: CDC14A were changed from to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Mendeliome v0.13023 CDC14A Ain Roesley Publications for gene: CDC14A were set to
Mendeliome v0.13023 CDC14A Ain Roesley Mode of inheritance for gene: CDC14A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13022 CDC14A Ain Roesley reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 2725905; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13022 CD79B Ain Roesley Marked gene: CD79B as ready
Mendeliome v0.13022 CD79B Ain Roesley Gene: cd79b has been classified as Green List (High Evidence).
Mendeliome v0.13022 CD79B Ain Roesley Phenotypes for gene: CD79B were changed from to Agammaglobulinemia 6 MIM#612692
Mendeliome v0.13022 CD79B Ain Roesley Publications for gene: CD79B were set to
Mendeliome v0.13021 CD79B Ain Roesley Mode of inheritance for gene: CD79B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13020 CD79B Ain Roesley reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17709424, 17675462, 33733381, 24722855; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13020 PRDM5 Zornitza Stark Marked gene: PRDM5 as ready
Mendeliome v0.13020 PRDM5 Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
Mendeliome v0.13020 PRDM5 Zornitza Stark Phenotypes for gene: PRDM5 were changed from to Brittle cornea syndrome 2, MIM# 614170
Mendeliome v0.13019 PRDM5 Zornitza Stark Publications for gene: PRDM5 were set to
Mendeliome v0.13018 PRDM5 Zornitza Stark Mode of inheritance for gene: PRDM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13017 PRDM5 Zornitza Stark reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21664999, 22122778, 21664999, 33739556, 27032025; Phenotypes: Brittle cornea syndrome 2, MIM# 614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13017 PREPL Zornitza Stark Marked gene: PREPL as ready
Mendeliome v0.13017 PREPL Zornitza Stark Gene: prepl has been classified as Green List (High Evidence).
Mendeliome v0.13017 PREPL Zornitza Stark Phenotypes for gene: PREPL were changed from to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport
Mendeliome v0.13016 PREPL Zornitza Stark Publications for gene: PREPL were set to
Mendeliome v0.13015 PREPL Zornitza Stark Mode of inheritance for gene: PREPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.337 PRG4 Zornitza Stark Marked gene: PRG4 as ready
Arthrogryposis v0.337 PRG4 Zornitza Stark Gene: prg4 has been classified as Green List (High Evidence).
Arthrogryposis v0.337 PRG4 Zornitza Stark Phenotypes for gene: PRG4 were changed from to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250
Arthrogryposis v0.336 PRG4 Zornitza Stark Publications for gene: PRG4 were set to
Arthrogryposis v0.335 PRG4 Zornitza Stark Mode of inheritance for gene: PRG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.334 PRG4 Zornitza Stark reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545950, 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13014 PRG4 Zornitza Stark Marked gene: PRG4 as ready
Mendeliome v0.13014 PRG4 Zornitza Stark Gene: prg4 has been classified as Green List (High Evidence).
Mendeliome v0.13014 PRG4 Zornitza Stark Phenotypes for gene: PRG4 were changed from to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250
Mendeliome v0.13013 PRG4 Zornitza Stark Publications for gene: PRG4 were set to
Mendeliome v0.13012 PRG4 Zornitza Stark Mode of inheritance for gene: PRG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13011 PRG4 Zornitza Stark reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545950, 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13011 PRICKLE2 Zornitza Stark Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder, global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder. to Neurodevelopmental disorder, MONDO:0700092; global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder.
Mendeliome v0.13010 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Mendeliome v0.13010 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Green List (High Evidence).
Mendeliome v0.13010 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM# 612437
Mendeliome v0.13009 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Mendeliome v0.13008 PRICKLE1 Zornitza Stark Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13007 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34597683, 30564977, 30345727, 29790814, 26727662, 31035234; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13007 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Mendeliome v0.13007 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Mendeliome v0.13007 PRKAR1A Zornitza Stark Phenotypes for gene: PRKAR1A were changed from to Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489
Mendeliome v0.13006 PRKAR1A Zornitza Stark Publications for gene: PRKAR1A were set to
Mendeliome v0.13005 PRKAR1A Zornitza Stark Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13004 PRKAR1A Zornitza Stark reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973256, 11115848, 12424709, 21651393; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800, Carney complex, type 1, MIM# 160980, Myxoma, intracardiac, MIM# 255960, Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13004 PRKCG Zornitza Stark Marked gene: PRKCG as ready
Mendeliome v0.13004 PRKCG Zornitza Stark Gene: prkcg has been classified as Green List (High Evidence).
Ataxia v0.334 PRKCG Zornitza Stark Marked gene: PRKCG as ready
Ataxia v0.334 PRKCG Zornitza Stark Gene: prkcg has been classified as Amber List (Moderate Evidence).
Regression v0.469 PRKCG Zornitza Stark Marked gene: PRKCG as ready
Regression v0.469 PRKCG Zornitza Stark Gene: prkcg has been classified as Red List (Low Evidence).
Regression v0.469 PRKCG Zornitza Stark Phenotypes for gene: PRKCG were changed from to Spinocerebellar ataxia 14, MIM# 605361
Regression v0.468 PRKCG Zornitza Stark Publications for gene: PRKCG were set to
Ataxia v0.334 PRKCG Zornitza Stark Classified gene: PRKCG as Amber List (moderate evidence)
Ataxia v0.334 PRKCG Zornitza Stark Gene: prkcg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13004 PRKCG Zornitza Stark Phenotypes for gene: PRKCG were changed from to Spinocerebellar ataxia 14, MIM# 605361
Regression v0.467 PRKCG Zornitza Stark Mode of inheritance for gene: PRKCG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.466 PRKCG Zornitza Stark Classified gene: PRKCG as Red List (low evidence)
Regression v0.466 PRKCG Zornitza Stark Gene: prkcg has been classified as Red List (Low Evidence).
Ataxia v0.333 PRKCG Zornitza Stark gene: PRKCG was added
gene: PRKCG was added to Ataxia - paediatric. Sources: Expert Review
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCG were set to 34292398
Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14, MIM# 605361
Review for gene: PRKCG was set to AMBER
Added comment: Typically adult onset, but note two individuals reported with severe paediatric onset.
Sources: Expert Review
Mendeliome v0.13003 PRKCG Zornitza Stark Publications for gene: PRKCG were set to
Mendeliome v0.13002 PRKCG Zornitza Stark Mode of inheritance for gene: PRKCG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1561 PRMT7 Zornitza Stark Marked gene: PRMT7 as ready
Genetic Epilepsy v0.1561 PRMT7 Zornitza Stark Gene: prmt7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1561 PRMT7 Zornitza Stark Phenotypes for gene: PRMT7 were changed from to Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157
Regression v0.465 PRKCG Zornitza Stark reviewed gene: PRKCG: Rating: RED; Mode of pathogenicity: None; Publications: 12644968, 14676051, 14694043, 16193476, 33739604, 34292398; Phenotypes: Spinocerebellar ataxia 14, MIM# 605361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13001 PRKCG Zornitza Stark reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 12644968, 14676051, 14694043, 16193476, 33739604, 34292398; Phenotypes: Spinocerebellar ataxia 14, MIM# 605361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1560 PRMT7 Zornitza Stark Publications for gene: PRMT7 were set to
Mendeliome v0.13001 PRKG1 Zornitza Stark Marked gene: PRKG1 as ready
Mendeliome v0.13001 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Green List (High Evidence).
Mendeliome v0.13001 PRKG1 Zornitza Stark Phenotypes for gene: PRKG1 were changed from to Aortic aneurysm, familial thoracic 8, MIM# 615436
Mendeliome v0.13000 PRKG1 Zornitza Stark Publications for gene: PRKG1 were set to
Mendeliome v0.12999 PRKG1 Zornitza Stark Mode of inheritance for gene: PRKG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12998 PRKG1 Zornitza Stark reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 23910461, 30577811; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM# 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1559 PRMT7 Zornitza Stark Mode of inheritance for gene: PRMT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1558 PRMT7 Zornitza Stark reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4680 PRMT7 Zornitza Stark Marked gene: PRMT7 as ready
Intellectual disability syndromic and non-syndromic v0.4680 PRMT7 Zornitza Stark Gene: prmt7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4680 PRMT7 Zornitza Stark Phenotypes for gene: PRMT7 were changed from to Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157
Mendeliome v0.12998 PRMT7 Zornitza Stark Marked gene: PRMT7 as ready
Mendeliome v0.12998 PRMT7 Zornitza Stark Gene: prmt7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4679 PRMT7 Zornitza Stark Publications for gene: PRMT7 were set to
Mendeliome v0.12998 PRMT7 Zornitza Stark Phenotypes for gene: PRMT7 were changed from to Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157
Mendeliome v0.12997 PRMT7 Zornitza Stark Publications for gene: PRMT7 were set to
Intellectual disability syndromic and non-syndromic v0.4678 PRMT7 Zornitza Stark Mode of inheritance for gene: PRMT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12996 PRMT7 Zornitza Stark Mode of inheritance for gene: PRMT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4677 PRMT7 Zornitza Stark reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12995 PRMT7 Zornitza Stark reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12995 PRODH Zornitza Stark Marked gene: PRODH as ready
Mendeliome v0.12995 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Mendeliome v0.12995 PRODH Zornitza Stark Phenotypes for gene: PRODH were changed from to Hyperprolinaemia, type I 239500; Proline oxidase deficiency
Mendeliome v0.12994 PRODH Zornitza Stark Publications for gene: PRODH were set to
Mendeliome v0.12993 PRODH Zornitza Stark Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12992 PROK2 Zornitza Stark Marked gene: PROK2 as ready
Mendeliome v0.12992 PROK2 Zornitza Stark Gene: prok2 has been classified as Green List (High Evidence).
Callosome v0.435 PROK2 Zornitza Stark Marked gene: PROK2 as ready
Callosome v0.435 PROK2 Zornitza Stark Gene: prok2 has been classified as Red List (Low Evidence).
Callosome v0.435 PROK2 Zornitza Stark Phenotypes for gene: PROK2 were changed from to Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628
Callosome v0.434 PROK2 Zornitza Stark Publications for gene: PROK2 were set to
Callosome v0.433 PROK2 Zornitza Stark Mode of inheritance for gene: PROK2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.432 PROK2 Zornitza Stark Classified gene: PROK2 as Red List (low evidence)
Callosome v0.432 PROK2 Zornitza Stark Gene: prok2 has been classified as Red List (Low Evidence).
Callosome v0.431 PROK2 Zornitza Stark reviewed gene: PROK2: Rating: RED; Mode of pathogenicity: None; Publications: 18559922, 17054399, 17959774, 18285834; Phenotypes: Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12992 PROK2 Zornitza Stark Phenotypes for gene: PROK2 were changed from to Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628
Mendeliome v0.12991 PROK2 Zornitza Stark Publications for gene: PROK2 were set to
Mendeliome v0.12990 PROK2 Zornitza Stark Mode of inheritance for gene: PROK2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12989 PROK2 Zornitza Stark reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18559922, 17054399, 17959774, 18285834; Phenotypes: Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12989 PROM1 Zornitza Stark Marked gene: PROM1 as ready
Mendeliome v0.12989 PROM1 Zornitza Stark Gene: prom1 has been classified as Green List (High Evidence).
Mendeliome v0.12989 PROM1 Zornitza Stark Phenotypes for gene: PROM1 were changed from to Inherited retinal dystrophy, MONDO:0019118; Cone-rod dystrophy 12, MIM# 612657; Macular dystrophy, retinal, 2, MI# 608051; Retinitis pigmentosa 41, MIM# 612095; Stargardt disease 4, MIM# 603786
Mendeliome v0.12988 PROM1 Zornitza Stark Publications for gene: PROM1 were set to
Mendeliome v0.12987 PROM1 Zornitza Stark Mode of inheritance for gene: PROM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12986 PROM1 Zornitza Stark reviewed gene: PROM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10587575, 17605048, 18654668, 29416601, 31576780, 34664634, 32820593; Phenotypes: Inherited retinal dystrophy, MONDO:0019118, Cone-rod dystrophy 12, MIM# 612657, Macular dystrophy, retinal, 2, MI# 608051, Retinitis pigmentosa 41, MIM# 612095, Stargardt disease 4, MIM# 603786; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12986 PROS1 Zornitza Stark Marked gene: PROS1 as ready
Mendeliome v0.12986 PROS1 Zornitza Stark Gene: pros1 has been classified as Green List (High Evidence).
Mendeliome v0.12986 PROS1 Zornitza Stark Phenotypes for gene: PROS1 were changed from to Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514
Mendeliome v0.12985 PROS1 Zornitza Stark Publications for gene: PROS1 were set to
Mendeliome v0.12984 PROS1 Zornitza Stark Mode of inheritance for gene: PROS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12983 PROS1 Zornitza Stark reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7545463, 19466456, 10063989, 20484936, 19729839; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336, Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12983 PRPF3 Zornitza Stark Marked gene: PRPF3 as ready
Mendeliome v0.12983 PRPF3 Zornitza Stark Gene: prpf3 has been classified as Green List (High Evidence).
Mendeliome v0.12983 PRPF3 Zornitza Stark Phenotypes for gene: PRPF3 were changed from to Retinitis pigmentosa 18, MIM# 601414
Mendeliome v0.12982 PRPF3 Zornitza Stark Publications for gene: PRPF3 were set to
Mendeliome v0.12981 PRPF3 Zornitza Stark Mode of inheritance for gene: PRPF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12980 PRPF3 Zornitza Stark reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11773002, 27886254; Phenotypes: Retinitis pigmentosa 18, MIM# 601414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12980 PRPF4 Zornitza Stark Marked gene: PRPF4 as ready
Mendeliome v0.12980 PRPF4 Zornitza Stark Gene: prpf4 has been classified as Green List (High Evidence).
Mendeliome v0.12980 PRPF4 Zornitza Stark Phenotypes for gene: PRPF4 were changed from to Retinitis pigmentosa 70, MIM# 615922
Mendeliome v0.12979 PRPF4 Zornitza Stark Publications for gene: PRPF4 were set to
Mendeliome v0.12978 PRPF4 Zornitza Stark Mode of inheritance for gene: PRPF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12977 PRPF4 Zornitza Stark reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24419317, 25383878; Phenotypes: Retinitis pigmentosa 70, MIM# 615922; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12977 PRPF6 Zornitza Stark Marked gene: PRPF6 as ready
Mendeliome v0.12977 PRPF6 Zornitza Stark Gene: prpf6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12977 PRPF6 Zornitza Stark Phenotypes for gene: PRPF6 were changed from to Retinitis pigmentosa 60, MIM# 613983
Mendeliome v0.12976 PRPF6 Zornitza Stark Publications for gene: PRPF6 were set to
Mendeliome v0.12975 PRPF6 Zornitza Stark Mode of inheritance for gene: PRPF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12974 PRPF6 Zornitza Stark Classified gene: PRPF6 as Amber List (moderate evidence)
Mendeliome v0.12974 PRPF6 Zornitza Stark Gene: prpf6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12973 PRPF6 Zornitza Stark reviewed gene: PRPF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21549338, 32335390; Phenotypes: Retinitis pigmentosa 60, MIM# 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.134 PRPH Zornitza Stark Marked gene: PRPH as ready
Motor Neurone Disease v0.134 PRPH Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.134 PRPH Zornitza Stark Phenotypes for gene: PRPH were changed from to {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Mendeliome v0.12973 PRPH Zornitza Stark Marked gene: PRPH as ready
Mendeliome v0.12973 PRPH Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12973 PRPH Zornitza Stark Phenotypes for gene: PRPH were changed from to {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Motor Neurone Disease v0.133 PRPH Zornitza Stark Publications for gene: PRPH were set to
Mendeliome v0.12972 PRPH Zornitza Stark Publications for gene: PRPH were set to
Motor Neurone Disease v0.132 PRPH Zornitza Stark Mode of inheritance for gene: PRPH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12971 PRPH Zornitza Stark Mode of inheritance for gene: PRPH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Motor Neurone Disease v0.132 PRPH Zornitza Stark Mode of inheritance for gene: PRPH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12970 PRPH Zornitza Stark Classified gene: PRPH as Amber List (moderate evidence)
Mendeliome v0.12970 PRPH Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12969 PRPH Zornitza Stark reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20363051, 15322088, 15446584; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12969 PRSS1 Zornitza Stark Marked gene: PRSS1 as ready
Mendeliome v0.12969 PRSS1 Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence).
Mendeliome v0.12969 PRSS1 Zornitza Stark Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800
Mendeliome v0.12968 PRSS1 Zornitza Stark Publications for gene: PRSS1 were set to
Mendeliome v0.12967 PRSS1 Zornitza Stark Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12966 PRSS1 Zornitza Stark Tag SV/CNV tag was added to gene: PRSS1.
Mendeliome v0.12966 PRSS1 Zornitza Stark reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841182, 10204851, 10529393, 11097832, 11702203, 15776435, 16791840, 18461367, 17072318; Phenotypes: Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4677 PRSS12 Zornitza Stark Marked gene: PRSS12 as ready
Intellectual disability syndromic and non-syndromic v0.4677 PRSS12 Zornitza Stark Gene: prss12 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4677 PRSS12 Zornitza Stark Phenotypes for gene: PRSS12 were changed from to Intellectual disability, PRSS12 related MIM#249500
Intellectual disability syndromic and non-syndromic v0.4676 PRSS12 Zornitza Stark Publications for gene: PRSS12 were set to
Intellectual disability syndromic and non-syndromic v0.4675 PRSS12 Zornitza Stark Mode of inheritance for gene: PRSS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4674 PRSS12 Zornitza Stark Classified gene: PRSS12 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4674 PRSS12 Zornitza Stark Gene: prss12 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4673 PRSS12 Zornitza Stark reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: None; Publications: 12459588; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12966 PRSS12 Zornitza Stark Marked gene: PRSS12 as ready
Mendeliome v0.12966 PRSS12 Zornitza Stark Gene: prss12 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12966 PRSS12 Zornitza Stark Phenotypes for gene: PRSS12 were changed from to Intellectual disability, PRSS12 related MIM#249500
Mendeliome v0.12965 PRSS12 Zornitza Stark Publications for gene: PRSS12 were set to
Mendeliome v0.12964 PRSS12 Zornitza Stark Mode of inheritance for gene: PRSS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12963 PRSS12 Zornitza Stark Classified gene: PRSS12 as Amber List (moderate evidence)
Mendeliome v0.12963 PRSS12 Zornitza Stark Gene: prss12 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12962 PRSS12 Zornitza Stark reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12962 PSMC2 Zornitza Stark Marked gene: PSMC2 as ready
Mendeliome v0.12962 PSMC2 Zornitza Stark Gene: psmc2 has been classified as Red List (Low Evidence).
Mendeliome v0.12962 PSMC2 Zornitza Stark Classified gene: PSMC2 as Red List (low evidence)
Mendeliome v0.12962 PSMC2 Zornitza Stark Gene: psmc2 has been classified as Red List (Low Evidence).
Mendeliome v0.12961 PSMC2 Zornitza Stark reviewed gene: PSMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12961 PSMC3IP Zornitza Stark Marked gene: PSMC3IP as ready
Mendeliome v0.12961 PSMC3IP Zornitza Stark Gene: psmc3ip has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.295 PSMC3IP Zornitza Stark Marked gene: PSMC3IP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.295 PSMC3IP Zornitza Stark Gene: psmc3ip has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.295 PSMC3IP Zornitza Stark Phenotypes for gene: PSMC3IP were changed from Ovarian dysgenesis 3,614324 to Ovarian dysgenesis 3, MIM# 614324
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.294 PSMC3IP Zornitza Stark Publications for gene: PSMC3IP were set to
Mendeliome v0.12961 PSMC3IP Zornitza Stark Phenotypes for gene: PSMC3IP were changed from to Ovarian dysgenesis 3, MIM# 614324
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.293 PSMC3IP Zornitza Stark reviewed gene: PSMC3IP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963259, 35352317, 34878148, 30406445, 29240891; Phenotypes: Ovarian dysgenesis 3, MIM# 614324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12960 PSMC3IP Zornitza Stark Publications for gene: PSMC3IP were set to
Mendeliome v0.12959 PSMC3IP Zornitza Stark Mode of inheritance for gene: PSMC3IP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12958 PSMC3IP Zornitza Stark reviewed gene: PSMC3IP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963259, 35352317, 34878148, 30406445, 29240891; Phenotypes: Ovarian dysgenesis 3, MIM# 614324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4673 PSMD12 Zornitza Stark Marked gene: PSMD12 as ready
Intellectual disability syndromic and non-syndromic v0.4673 PSMD12 Zornitza Stark Gene: psmd12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4673 PSMD12 Zornitza Stark Phenotypes for gene: PSMD12 were changed from to Stankiewicz-Isidor syndrome, MIM# 617516
Intellectual disability syndromic and non-syndromic v0.4672 PSMD12 Zornitza Stark Publications for gene: PSMD12 were set to
Intellectual disability syndromic and non-syndromic v0.4671 PSMD12 Zornitza Stark Mode of inheritance for gene: PSMD12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4670 PSMD12 Zornitza Stark reviewed gene: PSMD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132691, 34906456; Phenotypes: Stankiewicz-Isidor syndrome, MIM# 617516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12958 PSMD12 Zornitza Stark Marked gene: PSMD12 as ready
Mendeliome v0.12958 PSMD12 Zornitza Stark Gene: psmd12 has been classified as Green List (High Evidence).
Mendeliome v0.12958 PSMD12 Zornitza Stark Phenotypes for gene: PSMD12 were changed from to Stankiewicz-Isidor syndrome, MIM# 617516
Mendeliome v0.12957 PSMD12 Zornitza Stark Publications for gene: PSMD12 were set to
Mendeliome v0.12956 PSMD12 Zornitza Stark Mode of inheritance for gene: PSMD12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12955 PSMD12 Zornitza Stark reviewed gene: PSMD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132691, 34906456; Phenotypes: Stankiewicz-Isidor syndrome, MIM# 617516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12955 PSPH Zornitza Stark Marked gene: PSPH as ready
Mendeliome v0.12955 PSPH Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
Mendeliome v0.12955 PSPH Zornitza Stark Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency MIM#614023; Disorders of serine, glycine or glycerate metabolism
Mendeliome v0.12954 PSPH Zornitza Stark Publications for gene: PSPH were set to
Mendeliome v0.12953 PSPH Zornitza Stark Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.144 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Autoinflammatory Disorders v0.144 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.144 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Autoinflammatory Disorders v0.143 PSTPIP1 Zornitza Stark Publications for gene: PSTPIP1 were set to
Autoinflammatory Disorders v0.142 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.141 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11971877, 34938582, 34778321, 34745107, 34492165, 34047005; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12952 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Mendeliome v0.12952 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Mendeliome v0.12952 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Mendeliome v0.12951 PSTPIP1 Zornitza Stark Publications for gene: PSTPIP1 were set to
Mendeliome v0.12950 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12949 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11971877, 34938582, 34778321, 34745107, 34492165, 34047005; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12949 PTGDR Zornitza Stark Marked gene: PTGDR as ready
Mendeliome v0.12949 PTGDR Zornitza Stark Gene: ptgdr has been classified as Red List (Low Evidence).
Mendeliome v0.12949 PTGDR Zornitza Stark Phenotypes for gene: PTGDR were changed from to {Asthma, susceptibility to, 1} 607277
Mendeliome v0.12948 PTGDR Zornitza Stark Mode of inheritance for gene: PTGDR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12947 PTGDR Zornitza Stark Classified gene: PTGDR as Red List (low evidence)
Mendeliome v0.12947 PTGDR Zornitza Stark Gene: ptgdr has been classified as Red List (Low Evidence).
Mendeliome v0.12946 PTGDR Zornitza Stark reviewed gene: PTGDR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Asthma, susceptibility to, 1} 607277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12946 PTH Zornitza Stark Marked gene: PTH as ready
Mendeliome v0.12946 PTH Zornitza Stark Gene: pth has been classified as Green List (High Evidence).
Mendeliome v0.12946 PTH Zornitza Stark Phenotypes for gene: PTH were changed from to Hypoparathyroidism, familial isolated 1, MIM# 146200
Mendeliome v0.12945 PTH Zornitza Stark Publications for gene: PTH were set to
Mendeliome v0.12944 PTH Zornitza Stark Mode of inheritance for gene: PTH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12943 PTH Zornitza Stark reviewed gene: PTH: Rating: GREEN; Mode of pathogenicity: None; Publications: 2212001, 1302009, 10523031, 35165722, 32421798; Phenotypes: Hypoparathyroidism, familial isolated 1, MIM# 146200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12943 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Mendeliome v0.12943 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Mendeliome v0.12943 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from to Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Chondrodysplasia, Blomstrand type MIM#215045
Mendeliome v0.12942 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Mendeliome v0.12941 PTH1R Zornitza Stark edited their review of gene: PTH1R: Changed publications: 7701349, 8855805, 17164305, 15525660, 19061984
Mendeliome v0.12941 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12940 PTH1R Zornitza Stark reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Failure of tooth eruption, primary MIM#125350, Eiken syndrome MIM#600002, Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400, Chondrodysplasia, Blomstrand type MIM#215045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12940 PTHLH Zornitza Stark Marked gene: PTHLH as ready
Mendeliome v0.12940 PTHLH Zornitza Stark Gene: pthlh has been classified as Green List (High Evidence).
Mendeliome v0.12940 PTHLH Zornitza Stark Phenotypes for gene: PTHLH were changed from to Brachydactyly, type E2, MIM# 613382
Mendeliome v0.12939 PTHLH Zornitza Stark Publications for gene: PTHLH were set to
Mendeliome v0.12938 PTHLH Zornitza Stark Mode of inheritance for gene: PTHLH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12937 PTHLH Zornitza Stark reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20015959, 34897794, 29947179, 28211986; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12937 PTPN14 Zornitza Stark Marked gene: PTPN14 as ready
Mendeliome v0.12937 PTPN14 Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence).
Mendeliome v0.12937 PTPN14 Zornitza Stark Phenotypes for gene: PTPN14 were changed from to Choanal atresia and lymphoedema, MIM# 613611
Mendeliome v0.12936 PTPN14 Zornitza Stark Publications for gene: PTPN14 were set to
Mendeliome v0.12935 PTPN14 Zornitza Stark Mode of inheritance for gene: PTPN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12934 PTPN14 Zornitza Stark reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20826270; Phenotypes: Choanal atresia and lymphoedema, MIM# 613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.788 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.787 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Genetic Epilepsy v0.1558 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Genetic Epilepsy v0.1557 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mendeliome v0.12934 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mendeliome v0.12933 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mendeliome v0.12933 GCNA Zornitza Stark Phenotypes for gene: GCNA were changed from Spermatogenic failure, X-linked, 4, MIM# 301077 to Spermatogenic failure, X-linked, 4, MIM# 301077
Mendeliome v0.12933 GCNA Zornitza Stark Phenotypes for gene: GCNA were changed from primary spermatogenic failure to Spermatogenic failure, X-linked, 4, MIM# 301077
Mendeliome v0.12932 GCNA Zornitza Stark reviewed gene: GCNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure, X-linked, 4, MIM# 301077; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Predominantly Antibody Deficiency v0.109 TCF3 Zornitza Stark Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Predominantly Antibody Deficiency v0.108 TCF3 Zornitza Stark edited their review of gene: TCF3: Changed phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Mendeliome v0.12932 TCF3 Zornitza Stark Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Mendeliome v0.12931 TCF3 Zornitza Stark edited their review of gene: TCF3: Changed phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Mendeliome v0.12931 SMPX Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset to Deafness, X-linked 4, MIM# 300066; Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075
Mendeliome v0.12930 SMPX Zornitza Stark edited their review of gene: SMPX: Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075
Mendeliome v0.12930 PTPN22 Zornitza Stark Marked gene: PTPN22 as ready
Mendeliome v0.12930 PTPN22 Zornitza Stark Gene: ptpn22 has been classified as Red List (Low Evidence).
Mendeliome v0.12930 PTPN22 Zornitza Stark Mode of inheritance for gene: PTPN22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12929 PTPN22 Zornitza Stark Classified gene: PTPN22 as Red List (low evidence)
Mendeliome v0.12929 PTPN22 Zornitza Stark Gene: ptpn22 has been classified as Red List (Low Evidence).
Mendeliome v0.12928 PTPN22 Zornitza Stark reviewed gene: PTPN22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.190 PTPRO Zornitza Stark Marked gene: PTPRO as ready
Proteinuria v0.190 PTPRO Zornitza Stark Gene: ptpro has been classified as Green List (High Evidence).
Proteinuria v0.190 PTPRO Zornitza Stark Phenotypes for gene: PTPRO were changed from to Nephrotic syndrome, type 6, MIM# 614196
Proteinuria v0.189 PTPRO Zornitza Stark Publications for gene: PTPRO were set to
Proteinuria v0.188 PTPRO Zornitza Stark Mode of inheritance for gene: PTPRO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12928 PTPRO Zornitza Stark Marked gene: PTPRO as ready
Mendeliome v0.12928 PTPRO Zornitza Stark Gene: ptpro has been classified as Green List (High Evidence).
Proteinuria v0.187 PTPRO Zornitza Stark reviewed gene: PTPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 21722858, 34546508, 30065916; Phenotypes: Nephrotic syndrome, type 6, MIM# 614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12928 PTPRO Zornitza Stark Phenotypes for gene: PTPRO were changed from to Nephrotic syndrome, type 6, MIM# 614196
Mendeliome v0.12927 PTPRO Zornitza Stark Publications for gene: PTPRO were set to
Mendeliome v0.12926 PTPRO Zornitza Stark Mode of inheritance for gene: PTPRO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12925 PTPRO Zornitza Stark reviewed gene: PTPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 21722858, 34546508, 30065916; Phenotypes: Nephrotic syndrome, type 6, MIM# 614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12925 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Mendeliome v0.12925 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Mendeliome v0.12925 PTRH2 Zornitza Stark Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263
Mendeliome v0.12924 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to
Mendeliome v0.12923 PTRH2 Zornitza Stark Mode of inheritance for gene: PTRH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12922 PTRH2 Zornitza Stark Deleted their comment
Mendeliome v0.12922 PTRH2 Zornitza Stark commented on gene: PTRH2: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.

More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.
Mendeliome v0.12922 PTS Zornitza Stark Marked gene: PTS as ready
Mendeliome v0.12922 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Mendeliome v0.12922 PTS Zornitza Stark Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Mendeliome v0.12921 PTS Zornitza Stark Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12920 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12920 PUM1 Zornitza Stark Marked gene: PUM1 as ready
Mendeliome v0.12920 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Mendeliome v0.12920 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from to Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder, MONDO:0700092, PUM1-related
Mendeliome v0.12919 PUM1 Zornitza Stark Publications for gene: PUM1 were set to
Mendeliome v0.12918 PUM1 Zornitza Stark Mode of inheritance for gene: PUM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12917 PUM1 Zornitza Stark reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474920, 25768905, 30903679, 31859446; Phenotypes: Spinocerebellar ataxia 47, MIM# 617931, Neurodevelopmental disorder, MONDO:0700092, PUM1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4670 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Intellectual disability syndromic and non-syndromic v0.4670 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4670 PYCR2 Zornitza Stark Phenotypes for gene: PYCR2 were changed from to Leukodystrophy, hypomyelinating, 10, MIM# 616420
Intellectual disability syndromic and non-syndromic v0.4669 PYCR2 Zornitza Stark Publications for gene: PYCR2 were set to
Intellectual disability syndromic and non-syndromic v0.4668 PYCR2 Zornitza Stark Mode of inheritance for gene: PYCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4667 PYCR2 Zornitza Stark reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.259 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Leukodystrophy v0.259 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Leukodystrophy v0.259 PYCR2 Zornitza Stark Phenotypes for gene: PYCR2 were changed from Leukodystrophy, hypomyelinating, 10 616420 to Leukodystrophy, hypomyelinating, 10, MIM# 616420
Leukodystrophy v0.258 PYCR2 Zornitza Stark Publications for gene: PYCR2 were set to
Leukodystrophy v0.257 PYCR2 Zornitza Stark reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12917 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Mendeliome v0.12917 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Mendeliome v0.12917 PYCR2 Zornitza Stark Phenotypes for gene: PYCR2 were changed from to Leukodystrophy, hypomyelinating, 10, MIM# 616420
Mendeliome v0.12916 PYCR2 Zornitza Stark Publications for gene: PYCR2 were set to
Mendeliome v0.12915 F12 Bryony Thompson Mode of pathogenicity for gene: F12 was changed from to Other
Mendeliome v0.12915 PYCR2 Zornitza Stark Mode of inheritance for gene: PYCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12914 PYCR2 Zornitza Stark reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12914 F12 Bryony Thompson Mode of inheritance for gene: F12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12913 PYROXD1 Zornitza Stark Marked gene: PYROXD1 as ready
Mendeliome v0.12913 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Green List (High Evidence).
Mendeliome v0.12913 PYROXD1 Zornitza Stark Phenotypes for gene: PYROXD1 were changed from to Myopathy, myofibrillar, 8 , MIM#617258
Mendeliome v0.12912 PYROXD1 Zornitza Stark Publications for gene: PYROXD1 were set to
Mendeliome v0.12911 PYROXD1 Zornitza Stark Mode of inheritance for gene: PYROXD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12910 F12 Bryony Thompson commented on gene: F12: Also associated with FXII deficiency - PMID: 29383625, 20022356, 18024408, 20386432, 26709783, 21264442, 28007010, 15205584, 30700128 - Biallalelic loss-of-function variants are a well-established cause of FXII deficiency. FXII deficiency is not associated with bleeding risk unlike other coagulation factors, it is either asymptomatic or characterized by a prolonged activated partial thromboplastin time. DEFINITIVE gene-disease validity classification by the ClinGen Hemostasis Thrombosis VCEP, Classification - 01/22/2020
Mendeliome v0.12910 PYROXD1 Zornitza Stark reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745833; Phenotypes: Myopathy, myofibrillar, 8 , MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary angioedema v1.4 F12 Bryony Thompson Publications for gene: F12 were set to 16638441; 17186468; 19178938
Hydrops fetalis v0.264 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Hydrops fetalis v0.264 RAF1 Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.264 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM# 611553
Hereditary angioedema v1.3 F12 Bryony Thompson Mode of pathogenicity for gene: F12 was changed from to Other
Hydrops fetalis v0.263 RAF1 Zornitza Stark Publications for gene: RAF1 were set to
Hereditary angioedema v1.2 F12 Bryony Thompson Classified gene: F12 as Green List (high evidence)
Hereditary angioedema v1.2 F12 Bryony Thompson Gene: f12 has been classified as Green List (High Evidence).
Hereditary angioedema v1.1 F12 Bryony Thompson reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26193639, 16638441, 17381464, 21849258, 17186468, 19178938, 30463937, 23994767; Phenotypes: Hereditary angioedema type 3 MONDO:0012526; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.262 RAF1 Zornitza Stark Mode of pathogenicity for gene: RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.12910 F12 Bryony Thompson reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26193639, 16638441, 17381464, 21849258, 17186468, 19178938, 30463937, 23994767; Phenotypes: Hereditary angioedema type 3 MONDO:0012526; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.261 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.260 RIT1 Zornitza Stark edited their review of gene: RIT1: Changed phenotypes: Noonan syndrome-8, MIM:#615355; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.260 RIT1 Zornitza Stark Marked gene: RIT1 as ready
Hydrops fetalis v0.260 RIT1 Zornitza Stark Gene: rit1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.260 RIT1 Zornitza Stark Phenotypes for gene: RIT1 were changed from to Noonan syndrome-8, MIM:#615355
Hydrops fetalis v0.259 RIT1 Zornitza Stark Publications for gene: RIT1 were set to
Hydrops fetalis v0.258 RIT1 Zornitza Stark Mode of inheritance for gene: RIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.257 RIT1 Zornitza Stark reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrops fetalis v0.257 SHOC2 Zornitza Stark Marked gene: SHOC2 as ready
Hydrops fetalis v0.257 SHOC2 Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.257 SHOC2 Zornitza Stark Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM: #607721
Hydrops fetalis v0.256 SHOC2 Zornitza Stark Publications for gene: SHOC2 were set to
Hydrops fetalis v0.255 SHOC2 Zornitza Stark Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.254 SHOC2 Zornitza Stark reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12910 SGCD Zornitza Stark Marked gene: SGCD as ready
Mendeliome v0.12910 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Mendeliome v0.12910 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
Mendeliome v0.12909 SGCD Zornitza Stark Publications for gene: SGCD were set to
Mendeliome v0.12908 SGCD Zornitza Stark Mode of inheritance for gene: SGCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12907 SGCD Zornitza Stark changed review comment from: Association with LGMD is DEFINITIVE by ClinGen.; to: Association with LGMD is DEFINITIVE by ClinGen. More than 10 unrelated families reported.
Mendeliome v0.12907 SGCD Zornitza Stark reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12907 SGCB Zornitza Stark Marked gene: SGCB as ready
Mendeliome v0.12907 SGCB Zornitza Stark Gene: sgcb has been classified as Green List (High Evidence).
Mendeliome v0.12907 SGCB Zornitza Stark Phenotypes for gene: SGCB were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Mendeliome v0.12906 SGCB Zornitza Stark Publications for gene: SGCB were set to
Mendeliome v0.12905 SGCB Zornitza Stark Mode of inheritance for gene: SGCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 SGCA Zornitza Stark Marked gene: SGCA as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 SGCA Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099 to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.62 SGCA Zornitza Stark Publications for gene: SGCA were set to
Mendeliome v0.12904 SGCA Zornitza Stark Marked gene: SGCA as ready
Mendeliome v0.12904 SGCA Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
Mendeliome v0.12904 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Mendeliome v0.12903 SGCA Zornitza Stark Publications for gene: SGCA were set to
Mendeliome v0.12902 SGCA Zornitza Stark Mode of inheritance for gene: SGCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12901 SFXN4 Zornitza Stark Marked gene: SFXN4 as ready
Mendeliome v0.12901 SFXN4 Zornitza Stark Gene: sfxn4 has been classified as Green List (High Evidence).
Mendeliome v0.12901 SFXN4 Zornitza Stark Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578
Mendeliome v0.12900 SFXN4 Zornitza Stark Publications for gene: SFXN4 were set to
Mendeliome v0.12899 SFXN4 Zornitza Stark Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12898 SFRP4 Zornitza Stark Marked gene: SFRP4 as ready
Mendeliome v0.12898 SFRP4 Zornitza Stark Gene: sfrp4 has been classified as Green List (High Evidence).
Mendeliome v0.12898 SFRP4 Zornitza Stark Phenotypes for gene: SFRP4 were changed from to Pyle disease, MIM#265900
Mendeliome v0.12897 SFRP4 Zornitza Stark Publications for gene: SFRP4 were set to
Mendeliome v0.12896 SFRP4 Zornitza Stark Mode of inheritance for gene: SFRP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12895 SFRP4 Zornitza Stark reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.163 SFRP4 Zornitza Stark Marked gene: SFRP4 as ready
Skeletal dysplasia v0.163 SFRP4 Zornitza Stark Gene: sfrp4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.163 SFRP4 Zornitza Stark Phenotypes for gene: SFRP4 were changed from PYL; Pyle disease 265900; Metaphyseal dysplasia to Pyle disease, MIM#265900
Skeletal dysplasia v0.162 SFRP4 Zornitza Stark Publications for gene: SFRP4 were set to 28100910; 27355534; 26273529; 27117872; 20174869; 24096177; 22965941; 22387305
Skeletal dysplasia v0.161 SFRP4 Zornitza Stark reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyle disease, MIM# 265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12895 RASGRP1 Zornitza Stark Marked gene: RASGRP1 as ready
Mendeliome v0.12895 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Mendeliome v0.12895 RASGRP1 Zornitza Stark Phenotypes for gene: RASGRP1 were changed from to Immunodeficiency 64 (MIM#618534)
Mendeliome v0.12894 RASGRP1 Zornitza Stark Publications for gene: RASGRP1 were set to
Mendeliome v0.12893 RASGRP1 Zornitza Stark Mode of inheritance for gene: RASGRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12892 PDCD1 Zornitza Stark Marked gene: PDCD1 as ready
Mendeliome v0.12892 PDCD1 Zornitza Stark Gene: pdcd1 has been classified as Red List (Low Evidence).
Mendeliome v0.12892 PDCD1 Zornitza Stark Phenotypes for gene: PDCD1 were changed from PDCD1 deficiency to PDCD1 deficiency; Inborn errors of immunity, MONDO:0003778
Mendeliome v0.12891 PDCD1 Zornitza Stark Phenotypes for gene: PDCD1 were changed from to PDCD1 deficiency
Mendeliome v0.12890 PDCD1 Zornitza Stark Publications for gene: PDCD1 were set to
Mendeliome v0.12889 PDCD1 Zornitza Stark Mode of inheritance for gene: PDCD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12888 PDCD1 Zornitza Stark Classified gene: PDCD1 as Red List (low evidence)
Mendeliome v0.12888 PDCD1 Zornitza Stark Gene: pdcd1 has been classified as Red List (Low Evidence).
Mendeliome v0.12887 PCK2 Zornitza Stark Marked gene: PCK2 as ready
Mendeliome v0.12887 PCK2 Zornitza Stark Gene: pck2 has been classified as Red List (Low Evidence).
Mendeliome v0.12887 PCK2 Zornitza Stark Phenotypes for gene: PCK2 were changed from to PEPCK deficiency, mitochondrial - MIM#261650
Mendeliome v0.12886 PCK2 Zornitza Stark Mode of inheritance for gene: PCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12885 PCK2 Zornitza Stark Classified gene: PCK2 as Red List (low evidence)
Mendeliome v0.12885 PCK2 Zornitza Stark Gene: pck2 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.108 CD79A Zornitza Stark Marked gene: CD79A as ready
Predominantly Antibody Deficiency v0.108 CD79A Zornitza Stark Gene: cd79a has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.108 CD79A Zornitza Stark Phenotypes for gene: CD79A were changed from to Agammaglobulinaemia 3, MIM#613501
Predominantly Antibody Deficiency v0.107 CD79A Zornitza Stark Publications for gene: CD79A were set to
Predominantly Antibody Deficiency v0.106 CD79A Zornitza Stark Mode of inheritance for gene: CD79A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.105 CD79A Zornitza Stark reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29335801, 31696364, 24481606, 10525050, 11920841; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12884 CD79A Zornitza Stark Phenotypes for gene: CD79A were changed from Agammaglobulinemia 3 MIM#613501 to Agammaglobulinaemia 3 MIM#613501
Mendeliome v0.12883 PCCB Zornitza Stark Marked gene: PCCB as ready
Mendeliome v0.12883 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Mendeliome v0.12883 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from to Propionicacidaemia - MIM#606054
Mendeliome v0.12882 PCCB Zornitza Stark Publications for gene: PCCB were set to
Mendeliome v0.12881 PCCB Zornitza Stark Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12880 PCCA Zornitza Stark Marked gene: PCCA as ready
Mendeliome v0.12880 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Mendeliome v0.12880 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from to Propionicacidaemia - MIM#606054
Mendeliome v0.12879 PCCA Zornitza Stark Publications for gene: PCCA were set to
Mendeliome v0.12878 PCCA Zornitza Stark Mode of inheritance for gene: PCCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12877 FXR1 Bryony Thompson Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy; multiminicore myopathy MONDO:0018948 to Congenital multi-minicore myopathy; myopathy, congenital proximal, with minicore lesions MONDO:0032937
Mendeliome v0.12876 FXR1 Bryony Thompson Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy to Congenital multi-minicore myopathy; multiminicore myopathy MONDO:0018948
Mendeliome v0.12875 FZD5 Bryony Thompson Phenotypes for gene: FZD5 were changed from Coloboma to Coloboma MONDO:0001476
Hydrops fetalis v0.254 RAF1 Abhijit Kulkarni reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17603483, 17603482, 31145547, 31030682, 29271604, 24777450; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.254 RIT1 Abhijit Kulkarni reviewed gene: RIT1: Rating: ; Mode of pathogenicity: None; Publications: 25124994, 24939608, 27101134, 23791108, 33082562; Phenotypes: Noonan syndrome-8, MIM:#615355; Mode of inheritance: None
Hydrops fetalis v0.254 SHOC2 Abhijit Kulkarni reviewed gene: SHOC2: Rating: ; Mode of pathogenicity: None; Publications: 24458587, 33082562, 33027564; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM: #607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12874 PC Zornitza Stark Marked gene: PC as ready
Mendeliome v0.12874 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Mendeliome v0.12874 PC Zornitza Stark Phenotypes for gene: PC were changed from to Pyruvate carboxylase deficiency - MIM#266150
Mendeliome v0.12873 PC Zornitza Stark Publications for gene: PC were set to
Mendeliome v0.12872 PC Zornitza Stark Mode of inheritance for gene: PC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12871 PAX9 Zornitza Stark Marked gene: PAX9 as ready
Mendeliome v0.12871 PAX9 Zornitza Stark Gene: pax9 has been classified as Green List (High Evidence).
Mendeliome v0.12871 PAX9 Zornitza Stark Phenotypes for gene: PAX9 were changed from to Tooth agenesis, selective, 3 - MIM#604625
Mendeliome v0.12870 PAX9 Zornitza Stark Publications for gene: PAX9 were set to
Mendeliome v0.12869 PAX9 Zornitza Stark Mode of inheritance for gene: PAX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oligodontia v0.16 PAX9 Zornitza Stark Marked gene: PAX9 as ready
Oligodontia v0.16 PAX9 Zornitza Stark Gene: pax9 has been classified as Green List (High Evidence).
Oligodontia v0.16 PAX9 Zornitza Stark Phenotypes for gene: PAX9 were changed from to Tooth agenesis, selective, 3 - MIM#604625
Oligodontia v0.15 PAX9 Zornitza Stark Publications for gene: PAX9 were set to
Oligodontia v0.14 PAX9 Zornitza Stark Mode of inheritance for gene: PAX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12868 CD209 Zornitza Stark Mode of inheritance for gene: CD209 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12867 CCR2 Zornitza Stark Mode of inheritance for gene: CCR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.254 GBA Zornitza Stark Marked gene: GBA as ready
Hydrops fetalis v0.254 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Hydrops fetalis v0.254 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal,MIM# 608013
Hydrops fetalis v0.253 GBA Zornitza Stark Publications for gene: GBA were set to
Hydrops fetalis v0.252 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.251 GALNS Zornitza Stark Marked gene: GALNS as ready
Hydrops fetalis v0.251 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Hydrops fetalis v0.251 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from to Mucopolysaccharidosis IVA, MIM# 253000
Hydrops fetalis v0.250 GALNS Zornitza Stark Publications for gene: GALNS were set to
Hydrops fetalis v0.249 GALNS Zornitza Stark Mode of inheritance for gene: GALNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.248 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Hydrops fetalis v0.248 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.248 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphoedema-distichiasis syndrome, MIM:153400
Hydrops fetalis v0.247 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Hydrops fetalis v0.246 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4667 SET Zornitza Stark Marked gene: SET as ready
Intellectual disability syndromic and non-syndromic v0.4667 SET Zornitza Stark Gene: set has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4667 SET Zornitza Stark Phenotypes for gene: SET were changed from to Intellectual developmental disorder, autosomal dominant 58, MIM#618106; intellectual disability, autosomal dominant 58, MONDO:0020847
Intellectual disability syndromic and non-syndromic v0.4666 SET Zornitza Stark Publications for gene: SET were set to
Intellectual disability syndromic and non-syndromic v0.4665 SET Zornitza Stark Mode of inheritance for gene: SET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4664 SET Zornitza Stark reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: None; Publications: 29688601, 29907757, 25356899; Phenotypes: Intellectual developmental disorder, autosomal dominant 58, MIM#618106, intellectual disability, autosomal dominant 58, MONDO:0020847; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12866 SET Zornitza Stark Marked gene: SET as ready
Mendeliome v0.12866 SET Zornitza Stark Gene: set has been classified as Green List (High Evidence).
Mendeliome v0.12866 SET Zornitza Stark Phenotypes for gene: SET were changed from to Intellectual developmental disorder, autosomal dominant 58, MIM#618106; intellectual disability, autosomal dominant 58, MONDO:0020847
Mendeliome v0.12865 SET Zornitza Stark Publications for gene: SET were set to
Mendeliome v0.12864 SET Zornitza Stark Mode of inheritance for gene: SET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12863 SERPING1 Zornitza Stark Marked gene: SERPING1 as ready
Mendeliome v0.12863 SERPING1 Zornitza Stark Gene: serping1 has been classified as Green List (High Evidence).
Mendeliome v0.12863 SERPING1 Zornitza Stark Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, MIM#106100; Complement component 4, partial deficiency of, MIM#120790
Mendeliome v0.12862 SERPING1 Zornitza Stark Publications for gene: SERPING1 were set to
Mendeliome v0.12861 SERPING1 Zornitza Stark Mode of inheritance for gene: SERPING1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12860 FAM149B1 Bryony Thompson Phenotypes for gene: FAM149B1 were changed from Joubert; Ciliopathy to Joubert syndrome 36 MONDO:0032902; Ciliopathy
Mendeliome v0.12859 SGCD Samantha Ayres edited their review of gene: SGCD: Added comment: Variants identified in multiple cases of cardiomyopathy, however most are too common in the general population to explain the disease.
First described in the literature with potential association to cardiomyopathy in 2000 (Tsubata et al 10974018).
Case-control study by Mazzarotto et al 2020, did not identify enrichment of SGCD in DCM cohort.

Animal models demonstrate mild cardiomyopathy phenotype.

Curated as 'limited' gene-disease association by ClinGen; Changed rating: RED; Changed publications: 10974018, 31983221, 23695275; Changed phenotypes: Cardiomyopathy, dilated, 1L, MIM#606685, dilated cardiomyopathy MONDO:0005021; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12859 SGCD Samantha Ayres reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 30733730, 10838250; Phenotypes: autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM#601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.61 SGCB Samantha Ayres reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821, 30919934, 25862795; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SGCB Samantha Ayres reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.61 SGCA Samantha Ayres reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SGCA Samantha Ayres reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SFXN4 Samantha Ayres reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SFRP4 Samantha Ayres reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27355534, 31239337; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.161 SFRP4 Samantha Ayres reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27355534, 31239337; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SERPIND1 Zornitza Stark Marked gene: SERPIND1 as ready
Mendeliome v0.12859 SERPIND1 Zornitza Stark Gene: serpind1 has been classified as Green List (High Evidence).
Mendeliome v0.12859 SERPIND1 Zornitza Stark Phenotypes for gene: SERPIND1 were changed from to heparin cofactor 2 deficiency, MONDO:0012876; Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356
Mendeliome v0.12858 SERPIND1 Zornitza Stark Publications for gene: SERPIND1 were set to
Mendeliome v0.12857 SERPIND1 Zornitza Stark Mode of inheritance for gene: SERPIND1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1557 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Genetic Epilepsy v0.1557 NOVA2 Zornitza Stark Gene: nova2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1557 NOVA2 Zornitza Stark Phenotypes for gene: NOVA2 were changed from intellectual disability (ID), motor and speech delay; autistic features; hypotonia; feeding difficulties; spasticity; ataxia; epilepsy to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
Genetic Epilepsy v0.1556 NOVA2 Zornitza Stark Classified gene: NOVA2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1556 NOVA2 Zornitza Stark Gene: nova2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12856 NOVA2 Zornitza Stark Phenotypes for gene: NOVA2 were changed from Intellectual disability; autism; hypotonia; spasticity; ataxia to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
Genetic Epilepsy v0.1555 NOVA2 Zornitza Stark reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12855 NOVA2 Zornitza Stark edited their review of gene: NOVA2: Changed phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
Progressive Myoclonic Epilepsy v0.15 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Progressive Myoclonic Epilepsy v0.15 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.15 FBXO28 Zornitza Stark Phenotypes for gene: FBXO28 were changed from Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy to Developmental and epileptic encephalopathy 100 , MIM#619777
Progressive Myoclonic Epilepsy v0.14 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Progressive Myoclonic Epilepsy v0.14 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.13 FBXO28 Zornitza Stark reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 100 , MIM#619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12855 RASGRP1 Crystle Lee reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30030704, 29155103, 28822832, 17675473; Phenotypes: Immunodeficiency 64 (MIM#618534); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1555 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Genetic Epilepsy v0.1555 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1555 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Genetic Epilepsy v0.1554 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Mendeliome v0.12855 PDCD1 Krithika Murali changed review comment from: No OMIM gene disease association.

1 individual from a consanguineous family reported with PDCD1 deficiency.

PMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs*70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.; to: No OMIM gene disease association.

1 individual from a consanguineous family reported with PDCD1 deficiency.

PMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs*70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.
Mendeliome v0.12855 PDCD1 Krithika Murali reviewed gene: PDCD1: Rating: RED; Mode of pathogenicity: None; Publications: 34183838; Phenotypes: ?PDCD1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12855 PCK2 Krithika Murali reviewed gene: PCK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PEPCK deficiency, mitochondrial - MIM#261650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12855 CD79A Ain Roesley Marked gene: CD79A as ready
Mendeliome v0.12855 CD79A Ain Roesley Gene: cd79a has been classified as Green List (High Evidence).
Mendeliome v0.12855 CD79A Ain Roesley Phenotypes for gene: CD79A were changed from to Agammaglobulinemia 3 MIM#613501
Mendeliome v0.12854 CD79A Ain Roesley Publications for gene: CD79A were set to
Mendeliome v0.12854 CD79A Ain Roesley Mode of inheritance for gene: CD79A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12853 CD79A Ain Roesley reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29335801, 31696364, 24481606, 10525050, 11920841; Phenotypes: Agammaglobulinemia 3 MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12853 PCCB Krithika Murali reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12853 CD70 Ain Roesley Marked gene: CD70 as ready
Mendeliome v0.12853 CD70 Ain Roesley Gene: cd70 has been classified as Green List (High Evidence).
Mendeliome v0.12853 CD70 Ain Roesley Phenotypes for gene: CD70 were changed from to Lymphoproliferative syndrome 3, MIM# 618261
Mendeliome v0.12852 CD70 Ain Roesley Publications for gene: CD70 were set to
Mendeliome v0.12852 CD70 Ain Roesley Mode of inheritance for gene: CD70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12851 PCCA Krithika Murali reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17966092, 10101253, 9887338; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12851 CD70 Ain Roesley reviewed gene: CD70: Rating: GREEN; Mode of pathogenicity: None; Publications: 28011864, 28011863; Phenotypes: Lymphoproliferative syndrome 3, MIM# 618261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12851 CD55 Ain Roesley Marked gene: CD55 as ready
Mendeliome v0.12851 CD55 Ain Roesley Gene: cd55 has been classified as Green List (High Evidence).
Mendeliome v0.12851 CD55 Ain Roesley Phenotypes for gene: CD55 were changed from to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Mendeliome v0.12850 CD55 Ain Roesley Publications for gene: CD55 were set to
Mendeliome v0.12850 CD55 Ain Roesley Mode of inheritance for gene: CD55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12849 CD55 Ain Roesley reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: None; Publications: 28657829, 28657861; Phenotypes: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12849 CD46 Ain Roesley Marked gene: CD46 as ready
Mendeliome v0.12849 CD46 Ain Roesley Gene: cd46 has been classified as Green List (High Evidence).
Mendeliome v0.12849 CD46 Ain Roesley Phenotypes for gene: CD46 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922
Mendeliome v0.12849 CD46 Ain Roesley Publications for gene: CD46 were set to
Mendeliome v0.12849 CD46 Ain Roesley Mode of inheritance for gene: CD46 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12848 CD46 Ain Roesley reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301541, 26054645, 26826462; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12848 PC Krithika Murali reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9585612, 12112657; Phenotypes: Pyruvate carboxylase deficiency - MIM#266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12848 CD40 Ain Roesley Marked gene: CD40 as ready
Mendeliome v0.12848 CD40 Ain Roesley Gene: cd40 has been classified as Green List (High Evidence).
Mendeliome v0.12848 CD40 Ain Roesley Phenotypes for gene: CD40 were changed from to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Mendeliome v0.12847 CD40 Ain Roesley Publications for gene: CD40 were set to
Mendeliome v0.12847 CD40 Ain Roesley Mode of inheritance for gene: CD40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12846 CD40 Ain Roesley reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: None; Publications: 11675497, 12915844; Phenotypes: Immunodeficiency with hyper-IgM, type 3, MIM# 606843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Oligodontia v0.13 PAX9 Krithika Murali reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615120, 16479262; Phenotypes: Tooth agenesis, selective, 3 - MIM#604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12846 CD36 Ain Roesley Marked gene: CD36 as ready
Mendeliome v0.12846 CD36 Ain Roesley Gene: cd36 has been classified as Green List (High Evidence).
Mendeliome v0.12846 CD36 Ain Roesley Phenotypes for gene: CD36 were changed from to Platelet glycoprotein IV deficiency MIM#608404; {Malaria, cerebral, reduced risk of} MIM#611162; {Malaria, cerebral, susceptibility to} MIM#611162
Mendeliome v0.12845 CD36 Ain Roesley Publications for gene: CD36 were set to
Mendeliome v0.12845 CD36 Ain Roesley Mode of inheritance for gene: CD36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12844 CD36 Ain Roesley reviewed gene: CD36: Rating: GREEN; Mode of pathogenicity: None; Publications: 7686693, 11950861, 10890433, 24960640, 10890433; Phenotypes: Platelet glycoprotein IV deficiency MIM#608404, {Malaria, cerebral, reduced risk of} MIM#611162, {Malaria, cerebral, susceptibility to} MIM#611162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12844 CD36 Ain Roesley Deleted their review
Mendeliome v0.12844 CD36 Ain Roesley reviewed gene: CD36: Rating: GREEN; Mode of pathogenicity: None; Publications: 7533783, 11950861, 10890433, 12506336; Phenotypes: {Malaria, cerebral, reduced risk of} MIM#611162, {Malaria, cerebral, susceptibility to} MIM#611162, Platelet glycoprotein IV deficiency MIM#608404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12844 CD209 Ain Roesley Marked gene: CD209 as ready
Mendeliome v0.12844 CD209 Ain Roesley Gene: cd209 has been classified as Red List (Low Evidence).
Mendeliome v0.12844 CD209 Ain Roesley Phenotypes for gene: CD209 were changed from to {Dengue fever, protection against} MIM#614371; {HIV type 1, susceptibility to} MIM#609423; {Mycobacterium tuberculosis, susceptibility to} MIM#607948
Mendeliome v0.12844 CD209 Ain Roesley Classified gene: CD209 as Red List (low evidence)
Mendeliome v0.12844 CD209 Ain Roesley Gene: cd209 has been classified as Red List (Low Evidence).
Mendeliome v0.12843 CD209 Ain Roesley reviewed gene: CD209: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Dengue fever, protection against} MIM#614371, {HIV type 1, susceptibility to} MIM#609423, {Mycobacterium tuberculosis, susceptibility to} MIM#607948; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.12843 CD151 Ain Roesley Marked gene: CD151 as ready
Mendeliome v0.12843 CD151 Ain Roesley Gene: cd151 has been classified as Green List (High Evidence).
Mendeliome v0.12843 CD151 Ain Roesley Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Mendeliome v0.12842 CD151 Ain Roesley Publications for gene: CD151 were set to
Mendeliome v0.12842 CD151 Ain Roesley Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12841 CD151 Ain Roesley reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12841 CCR5 Ain Roesley Marked gene: CCR5 as ready
Mendeliome v0.12841 CCR5 Ain Roesley Gene: ccr5 has been classified as Green List (High Evidence).
Mendeliome v0.12841 CCR5 Ain Roesley Phenotypes for gene: CCR5 were changed from to {Hepatitis C virus, resistance to} 609532; {HIV infection, susceptibility/resistance to}; {West nile virus, susceptibility to}MIM# 610379
Mendeliome v0.12840 CCR5 Ain Roesley Mode of inheritance for gene: CCR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12839 CCR5 Ain Roesley reviewed gene: CCR5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hepatitis C virus, resistance to} 609532, {HIV infection, susceptibility/resistance to}, {West nile virus, susceptibility to}MIM# 610379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12839 CCR2 Ain Roesley Phenotypes for gene: CCR2 were changed from to {HIV infection, susceptibility/resistance to}
Mendeliome v0.12839 CCR2 Ain Roesley Publications for gene: CCR2 were set to
Mendeliome v0.12838 CCR2 Ain Roesley edited their review of gene: CCR2: Changed publications: 34516427, 17504215, 15167933, 17604544
Mendeliome v0.12838 CCR2 Ain Roesley changed review comment from: Currently no mendelian gene-disease association; to: Vall64Ile has been associated with reduction in the progression to AIDS. Mutant results in normal expression levels of the CCR2 receptor and has no effect on the incidence of HIV infection. However, in contrast to normal CCR2 peptides, the mutant protein preferentially dimerizes with the CXCR4 polypeptide, isolating it in the endoplasmic reticulum. It is also thought that the inhibitory effect is dependent on the stages of HIV-1 infection and interactions with other genetic variants.
Mendeliome v0.12838 CCR2 Ain Roesley edited their review of gene: CCR2: Changed phenotypes: {HIV infection, susceptibility/resistance to}
Mendeliome v0.12838 CCR2 Ain Roesley Classified gene: CCR2 as Red List (low evidence)
Mendeliome v0.12838 CCR2 Ain Roesley Gene: ccr2 has been classified as Red List (Low Evidence).
Mendeliome v0.12837 CCR2 Ain Roesley Classified gene: CCR2 as Red List (low evidence)
Mendeliome v0.12837 CCR2 Ain Roesley Gene: ccr2 has been classified as Red List (Low Evidence).
Mendeliome v0.12836 CCR2 Ain Roesley Marked gene: CCR2 as ready
Mendeliome v0.12836 CCR2 Ain Roesley Gene: ccr2 has been classified as Green List (High Evidence).
Mendeliome v0.12836 CCR2 Ain Roesley reviewed gene: CCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Hydrops fetalis v0.245 GBA Abhijit Kulkarni reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33897756, 33082562, 29854527; Phenotypes: GAUCHER DISEASE, MIM: 608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.245 GALNS Abhijit Kulkarni reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 33082562, 23137060; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1553 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1552 SLC25A12 Zornitza Stark reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 35008954, 32700846, 31766059, 31514314; Phenotypes: Developmental and epileptic encephalopathy 39, MIM# 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12836 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Mendeliome v0.12836 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Mendeliome v0.12836 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Mendeliome v0.12835 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Mendeliome v0.12834 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12833 SLC25A12 Zornitza Stark reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 35008954, 32700846, 31766059, 31514314; Phenotypes: Developmental and epileptic encephalopathy 39, MIM# 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.245 FOXC2 Abhijit Kulkarni reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301630, 2525212, 21918810, 25712632; Phenotypes: Lymphedema-distichiasis syndrome, MIM:153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12833 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Mendeliome v0.12833 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Mendeliome v0.12833 SLC25A13 Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM# 605814; Citrullinemia, adult-onset type II, MIM# 603471
Mendeliome v0.12832 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
Mendeliome v0.12831 SLC25A13 Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12830 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 21424115, 11343052; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814, Citrullinemia, adult-onset type II, MIM# 603471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12830 SLC25A15 Zornitza Stark Marked gene: SLC25A15 as ready
Mendeliome v0.12830 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Mendeliome v0.12830 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from to Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970
Mendeliome v0.12829 SLC25A15 Zornitza Stark Publications for gene: SLC25A15 were set to
Mendeliome v0.12828 SLC25A15 Zornitza Stark Mode of inheritance for gene: SLC25A15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12827 SLC25A15 Zornitza Stark reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369256, 19242930]; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12827 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Mendeliome v0.12827 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Mendeliome v0.12827 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Mendeliome v0.12826 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Mendeliome v0.12825 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12824 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1552 SLC25A22 Zornitza Stark Marked gene: SLC25A22 as ready
Genetic Epilepsy v0.1552 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1552 SLC25A22 Zornitza Stark Phenotypes for gene: SLC25A22 were changed from to Developmental and epileptic encephalopathy 3, MIM# 609304
Genetic Epilepsy v0.1551 SLC25A22 Zornitza Stark Publications for gene: SLC25A22 were set to
Mendeliome v0.12824 SLC25A22 Zornitza Stark Marked gene: SLC25A22 as ready
Mendeliome v0.12824 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Mendeliome v0.12824 SLC25A22 Zornitza Stark Phenotypes for gene: SLC25A22 were changed from to Developmental and epileptic encephalopathy 3, MIM# 609304
Mendeliome v0.12823 SLC25A22 Zornitza Stark Publications for gene: SLC25A22 were set to
Genetic Epilepsy v0.1550 SLC25A22 Zornitza Stark Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1549 SLC25A22 Zornitza Stark reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12822 SLC25A22 Zornitza Stark Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12821 SLC25A22 Zornitza Stark reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12821 TRPM1 Zornitza Stark Marked gene: TRPM1 as ready
Mendeliome v0.12821 TRPM1 Zornitza Stark Gene: trpm1 has been classified as Green List (High Evidence).
Mendeliome v0.12821 TRPM1 Zornitza Stark Phenotypes for gene: TRPM1 were changed from to Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216
Mendeliome v0.12820 TRPM1 Zornitza Stark Publications for gene: TRPM1 were set to
Mendeliome v0.12819 TRPM1 Zornitza Stark Mode of inheritance for gene: TRPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12818 TRPM1 Zornitza Stark reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878917, 19896113, 19896109; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.187 TRPC6 Zornitza Stark Marked gene: TRPC6 as ready
Proteinuria v0.187 TRPC6 Zornitza Stark Gene: trpc6 has been classified as Green List (High Evidence).
Proteinuria v0.187 TRPC6 Zornitza Stark Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2, MIM# 603965
Proteinuria v0.186 TRPC6 Zornitza Stark Publications for gene: TRPC6 were set to 15879175; 15924139; 34387384; 33918778; 32509715
Proteinuria v0.186 TRPC6 Zornitza Stark Publications for gene: TRPC6 were set to
Mendeliome v0.12818 TRPC6 Zornitza Stark Marked gene: TRPC6 as ready
Mendeliome v0.12818 TRPC6 Zornitza Stark Gene: trpc6 has been classified as Green List (High Evidence).
Proteinuria v0.185 TRPC6 Zornitza Stark Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.184 TRPC6 Zornitza Stark reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15879175, 15924139, 34387384, 33918778, 32509715; Phenotypes: Glomerulosclerosis, focal segmental, 2, MIM# 603965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12818 TRPC6 Zornitza Stark Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2, MIM# 603965
Mendeliome v0.12817 TRPC6 Zornitza Stark Publications for gene: TRPC6 were set to
Mendeliome v0.12816 TRPC6 Zornitza Stark Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12815 TRPC6 Zornitza Stark reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15879175, 15924139, 34387384, 33918778, 32509715; Phenotypes: Glomerulosclerosis, focal segmental, 2, MIM# 603965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.161 TRAPPC2 Zornitza Stark Marked gene: TRAPPC2 as ready
Skeletal dysplasia v0.161 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Green List (High Evidence).
Mendeliome v0.12815 TRAPPC2 Zornitza Stark Marked gene: TRAPPC2 as ready
Mendeliome v0.12815 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Green List (High Evidence).
Mendeliome v0.12815 TRAPPC2 Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from to Spondyloepiphyseal dysplasia tarda, MIM# 313400
Skeletal dysplasia v0.161 TRAPPC2 Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda 313400; Spondyloepiphyseal dysplasia tarda 313400 to Spondyloepiphyseal dysplasia tarda, MIM# 313400
Skeletal dysplasia v0.160 TRAPPC2 Zornitza Stark Publications for gene: TRAPPC2 were set to
Mendeliome v0.12814 TRAPPC2 Zornitza Stark Publications for gene: TRAPPC2 were set to
Skeletal dysplasia v0.159 TRAPPC2 Zornitza Stark reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431248, 14755465, 33726005, 20301324, 32953644; Phenotypes: Spondyloepiphyseal dysplasia tarda, MIM# 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12813 TRAPPC2 Zornitza Stark Mode of inheritance for gene: TRAPPC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12812 TRAPPC2 Zornitza Stark reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431248, 14755465, 33726005, 20301324, 32953644; Phenotypes: Spondyloepiphyseal dysplasia tarda, MIM# 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12812 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Mendeliome v0.12812 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Mendeliome v0.12812 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Mendeliome v0.12812 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Mendeliome v0.12812 TRAPPC11 Zornitza Stark Phenotypes for gene: TRAPPC11 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356
Mendeliome v0.12811 TRAPPC11 Zornitza Stark Publications for gene: TRAPPC11 were set to
Mendeliome v0.12810 TRAPPC11 Zornitza Stark Mode of inheritance for gene: TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12809 TRAPPC11 Zornitza Stark reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1549 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Genetic Epilepsy v0.1549 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1549 TRAK1 Zornitza Stark Phenotypes for gene: TRAK1 were changed from to Developmental and epileptic encephalopathy 68, MIM# 618201
Mendeliome v0.12809 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Mendeliome v0.12809 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mendeliome v0.12809 TRAK1 Zornitza Stark Phenotypes for gene: TRAK1 were changed from to Developmental and epileptic encephalopathy 68, MIM# 618201
Genetic Epilepsy v0.1548 TRAK1 Zornitza Stark Publications for gene: TRAK1 were set to
Mendeliome v0.12808 TRAK1 Zornitza Stark Publications for gene: TRAK1 were set to
Genetic Epilepsy v0.1547 TRAK1 Zornitza Stark Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12807 TRAK1 Zornitza Stark Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12806 TRAK1 Zornitza Stark reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532, 28924745; Phenotypes: Developmental and epileptic encephalopathy 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12806 TPMT Zornitza Stark Marked gene: TPMT as ready
Mendeliome v0.12806 TPMT Zornitza Stark Gene: tpmt has been classified as Red List (Low Evidence).
Mendeliome v0.12806 TPMT Zornitza Stark Phenotypes for gene: TPMT were changed from to {Thiopurines, poor metabolism of, 1} 610460
Mendeliome v0.12805 TPMT Zornitza Stark Classified gene: TPMT as Red List (low evidence)
Mendeliome v0.12805 TPMT Zornitza Stark Gene: tpmt has been classified as Red List (Low Evidence).
Mendeliome v0.12804 TPMT Zornitza Stark reviewed gene: TPMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Thiopurines, poor metabolism of, 1} 610460; Mode of inheritance: None
Mendeliome v0.12804 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Mendeliome v0.12804 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Mendeliome v0.12804 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Mendeliome v0.12803 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Mendeliome v0.12802 TRNT1 Zornitza Stark Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12801 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25193871, 23553769, 29170023, 27389523, 26494905; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12801 TRMU Zornitza Stark Marked gene: TRMU as ready
Mendeliome v0.12801 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Mendeliome v0.12801 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070
Mendeliome v0.12800 TRMU Zornitza Stark Publications for gene: TRMU were set to
Mendeliome v0.12799 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Marked gene: TRMT5 as ready
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539
Mitochondrial disease v0.786 TRMT5 Zornitza Stark Publications for gene: TRMT5 were set to
Mendeliome v0.12798 TRMU Zornitza Stark reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863; Phenotypes: Liver failure, transient infantile, MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.785 TRMT5 Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.784 TRMT5 Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.783 TRMT5 Zornitza Stark reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12798 TRMT5 Zornitza Stark Marked gene: TRMT5 as ready
Mendeliome v0.12798 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Green List (High Evidence).
Mendeliome v0.12798 TRMT5 Zornitza Stark Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539
Mendeliome v0.12797 TRMT5 Zornitza Stark Publications for gene: TRMT5 were set to
Mendeliome v0.12796 TRMT5 Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12795 TRMT5 Zornitza Stark reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12795 EYS Bryony Thompson reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18836446, 18976725, 34689181; Phenotypes: retinitis pigmentosa 25 MONDO:0011272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12795 EXT1 Bryony Thompson Publications for gene: EXT1 were set to
Mendeliome v0.12794 EXT1 Bryony Thompson Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12793 ETV1 Bryony Thompson Marked gene: ETV1 as ready
Mendeliome v0.12793 ETV1 Bryony Thompson Gene: etv1 has been classified as Red List (Low Evidence).
Mendeliome v0.12793 EXT1 Bryony Thompson reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 8981950, 20534475; Phenotypes: hereditary multiple osteochondromas MONDO:0005508, exostoses, multiple, type 1 MONDO:0007585; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12793 ETV1 Bryony Thompson Publications for gene: ETV1 were set to
Mendeliome v0.12792 EXOC7 Bryony Thompson Phenotypes for gene: EXOC7 were changed from brain atrophy; seizures; developmental delay; microcephaly to Neurodevelopmental disorder with seizures and brain atrophy MIM#619072; brain atrophy; seizures; developmental delay; microcephaly
Mendeliome v0.12791 ETV1 Bryony Thompson Classified gene: ETV1 as Red List (low evidence)
Mendeliome v0.12791 ETV1 Bryony Thompson Gene: etv1 has been classified as Red List (Low Evidence).
Mendeliome v0.12790 EXOC3L2 Bryony Thompson Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Dandy-Walker malformation, MONDO:0009072; renal dysplasia; bone marrow failure
Mendeliome v0.12789 ETV1 Bryony Thompson reviewed gene: ETV1: Rating: RED; Mode of pathogenicity: None; Publications: 16254181, 34430591; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.12789 ETFDH Bryony Thompson Marked gene: ETFDH as ready
Mendeliome v0.12789 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Mendeliome v0.12789 ETFDH Bryony Thompson Phenotypes for gene: ETFDH were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
Mendeliome v0.12788 ETFDH Bryony Thompson Publications for gene: ETFDH were set to
Mendeliome v0.12787 SET Samantha Ayres reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: None; Publications: 29688601, 29907757, 25356899; Phenotypes: Intellectual developmental disorder, autosomal dominant 58, MIM#618106, intellectual disability, autosomal dominant 58, MONDO:0020847; Mode of inheritance: None
Mendeliome v0.12787 SERPING1 Samantha Ayres reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35386643, 31517426, 29753808; Phenotypes: Angioedema, hereditary, 1 and 2, MIM#106100, Complement component 4, partial deficiency of, MIM#120790; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12787 SERPIND1 Samantha Ayres reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2863444, 8902986, 2647747, 15337701, 31064749, 11204559, 8562924, 29296762; Phenotypes: heparin cofactor 2 deficiency, MONDO:0012876, Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.212 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Dystonia and Chorea v0.212 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.212 FBXO28 Zornitza Stark Phenotypes for gene: FBXO28 were changed from infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy to Developmental and epileptic encephalopathy 100, MIM# 619777
Dystonia and Chorea v0.211 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Dystonia and Chorea v0.211 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.210 FBXO28 Zornitza Stark reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.210 TNPO2 Zornitza Stark Marked gene: TNPO2 as ready
Dystonia and Chorea v0.210 TNPO2 Zornitza Stark Gene: tnpo2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.210 TNPO2 Zornitza Stark Phenotypes for gene: TNPO2 were changed from global developmental delay; dysmorphic features; ophthalmologic abnormalities; intellectual disability; fever induced seizures; epilepsy, dystonia; cerebellar dysplasia; cerebllar dysplasia; microcephaly to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Dystonia and Chorea v0.209 TNPO2 Zornitza Stark Classified gene: TNPO2 as Green List (high evidence)
Dystonia and Chorea v0.209 TNPO2 Zornitza Stark Gene: tnpo2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1546 NOVA2 Shekeeb Mohammad gene: NOVA2 was added
gene: NOVA2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to 32197073
Phenotypes for gene: NOVA2 were set to intellectual disability (ID), motor and speech delay; autistic features; hypotonia; feeding difficulties; spasticity; ataxia; epilepsy
Penetrance for gene: NOVA2 were set to unknown
Review for gene: NOVA2 was set to GREEN
Added comment: Sources: Literature
Progressive Myoclonic Epilepsy v0.13 FBXO28 Shekeeb Mohammad gene: FBXO28 was added
gene: FBXO28 was added to Progressive Myoclonic 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 Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy
Penetrance for gene: FBXO28 were set to unknown
Review for gene: FBXO28 was set to GREEN
gene: FBXO28 was marked as current diagnostic
Added comment: Sources: Literature
Dystonia and Chorea v0.208 FBXO28 Shekeeb Mohammad gene: FBXO28 was added
gene: FBXO28 was added to Dystonia - complex. 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 infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy
Penetrance for gene: FBXO28 were set to unknown
Review for gene: FBXO28 was set to GREEN
gene: FBXO28 was marked as current diagnostic
Added comment: Sources: Literature
Dystonia and Chorea v0.208 TNPO2 Shekeeb Mohammad edited their review of gene: TNPO2: Set current diagnostic: yes
Dystonia and Chorea v0.208 TNPO2 Shekeeb Mohammad gene: TNPO2 was added
gene: TNPO2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNPO2 were set to 34314705
Phenotypes for gene: TNPO2 were set to global developmental delay; dysmorphic features; ophthalmologic abnormalities; intellectual disability; fever induced seizures; epilepsy, dystonia; cerebellar dysplasia; cerebllar dysplasia; microcephaly
Penetrance for gene: TNPO2 were set to unknown
Review for gene: TNPO2 was set to GREEN
Added comment: The movement disorder noted is a complex dystonia, with hyperkinetic components and some patients have episodic exacerbations
Sources: Literature
Mitochondrial disease v0.783 TRMT10C Zornitza Stark Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.782 TRMT10C Zornitza Stark reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132592, 33886802; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12787 TRMT10C Zornitza Stark Marked gene: TRMT10C as ready
Mendeliome v0.12787 TRMT10C Zornitza Stark Gene: trmt10c has been classified as Green List (High Evidence).
Mendeliome v0.12787 TRMT10C Zornitza Stark Phenotypes for gene: TRMT10C were changed from to Combined oxidative phosphorylation deficiency 30, MIM# 616974
Mendeliome v0.12786 TRMT10C Zornitza Stark Publications for gene: TRMT10C were set to
Mendeliome v0.12785 TRMT10C Zornitza Stark Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12784 TRMT10C Zornitza Stark reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132592, 33886802; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12784 PDHA2 Zornitza Stark Marked gene: PDHA2 as ready
Mendeliome v0.12784 PDHA2 Zornitza Stark Gene: pdha2 has been classified as Red List (Low Evidence).
Mendeliome v0.12784 PDHA2 Zornitza Stark gene: PDHA2 was added
gene: PDHA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDHA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHA2 were set to 29581481; 35172124
Phenotypes for gene: PDHA2 were set to Spermatogenic failure-70, MIM#619828
Review for gene: PDHA2 was set to RED
Added comment: Three individuals reported from different families with same homozygous missense variant. Same ethnic background, likely founder effect.
Sources: Literature
Mendeliome v0.12783 TRDN Zornitza Stark Marked gene: TRDN as ready
Mendeliome v0.12783 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Mendeliome v0.12783 TRDN Zornitza Stark Phenotypes for gene: TRDN were changed from to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441
Mendeliome v0.12782 TRDN Zornitza Stark Publications for gene: TRDN were set to
Mendeliome v0.12781 TRDN Zornitza Stark Mode of inheritance for gene: TRDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12780 TRDN Zornitza Stark reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240, 25922419, 30649896, 22422768; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.34 TRHR Zornitza Stark Marked gene: TRHR as ready
Congenital hypothyroidism v0.34 TRHR Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.34 TRHR Zornitza Stark Phenotypes for gene: TRHR were changed from mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Congenital hypothyroidism v0.33 TRHR Zornitza Stark reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12780 TRHR Zornitza Stark Marked gene: TRHR as ready
Mendeliome v0.12780 TRHR Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
Mendeliome v0.12780 TRHR Zornitza Stark Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Mendeliome v0.12779 TRHR Zornitza Stark Publications for gene: TRHR were set to
Mendeliome v0.12778 TRHR Zornitza Stark Mode of inheritance for gene: TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12777 TRHR Zornitza Stark reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12777 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Mendeliome v0.12777 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Mendeliome v0.12777 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism, MIM# 253250
Mendeliome v0.12776 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Mendeliome v0.12775 TRIM37 Zornitza Stark Mode of inheritance for gene: TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12774 TRIM37 Zornitza Stark reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 12754710, 15108285, 14757854, 27044324; Phenotypes: Mulibrey nanism, MIM# 253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12774 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Mendeliome v0.12774 TRIM32 Zornitza Stark Gene: trim32 has been classified as Green List (High Evidence).
Mendeliome v0.12774 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988; Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Mendeliome v0.12773 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Mendeliome v0.12772 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12771 TRIM32 Zornitza Stark changed review comment from: Single family reported in 2006.; to: BBS: Single family reported in 2006. LIMITED.
Mendeliome v0.12771 TRIM32 Zornitza Stark edited their review of gene: TRIM32: Added comment: >3 unrelated cases with myopathy, adult onset reported; Changed rating: GREEN; Changed publications: 16606853, 31309175, 11822024; Changed phenotypes: Bardet-Biedl syndrome 11, MIM# 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Palmoplantar Keratoderma and Erythrokeratoderma v0.112 TRPM4 Zornitza Stark Marked gene: TRPM4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.112 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.112 TRPM4 Zornitza Stark gene: TRPM4 was added
gene: TRPM4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM4 were set to 30528822
Phenotypes for gene: TRPM4 were set to Erythrokeratodermia variabilis et progressiva 6, MIM# 618531
Review for gene: TRPM4 was set to RED
Added comment: Two unrelated families reported with missense variants.
Sources: Expert Review
Mendeliome v0.12771 TRPM4 Zornitza Stark Marked gene: TRPM4 as ready
Mendeliome v0.12771 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12771 TRPM4 Zornitza Stark Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB, MIM# 604559; Erythrokeratodermia variabilis et progressiva 6, MIM# 618531
Mendeliome v0.12770 TRPM4 Zornitza Stark Publications for gene: TRPM4 were set to
Mendeliome v0.12769 TRPM4 Zornitza Stark Mode of inheritance for gene: TRPM4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12768 TRPM4 Zornitza Stark Classified gene: TRPM4 as Amber List (moderate evidence)
Mendeliome v0.12768 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12767 TRPM4 Zornitza Stark reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19726882, 20562447, 21887725, 20562447, 35205305, 34897640, 30528822; Phenotypes: Progressive familial heart block, type IB, MIM# 604559, Erythrokeratodermia variabilis et progressiva 6 618531; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12767 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Mendeliome v0.12767 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Green List (High Evidence).
Mendeliome v0.12767 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from to Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Mendeliome v0.12766 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12765 TTPA Zornitza Stark Marked gene: TTPA as ready
Mendeliome v0.12765 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Mendeliome v0.12765 TTPA Zornitza Stark Phenotypes for gene: TTPA were changed from to Ataxia with isolated vitamin E deficiency, MIM# 277460
Mendeliome v0.12764 TTPA Zornitza Stark Publications for gene: TTPA were set to
Mendeliome v0.12763 TTPA Zornitza Stark Mode of inheritance for gene: TTPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12762 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Mendeliome v0.12762 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Mendeliome v0.12762 TTC19 Zornitza Stark Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157
Mendeliome v0.12761 TTC19 Zornitza Stark Publications for gene: TTC19 were set to
Mendeliome v0.12760 TTC19 Zornitza Stark Mode of inheritance for gene: TTC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12759 TTC19 Zornitza Stark Deleted their comment
Mendeliome v0.12759 TTC19 Zornitza Stark edited their review of gene: TTC19: Added comment: Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life. The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances.

At least 4 unrelated families reported.; Changed publications: 21278747, 23532514, 24368687, 24397319
Mendeliome v0.12759 TSFM Zornitza Stark Marked gene: TSFM as ready
Mendeliome v0.12759 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Mendeliome v0.12759 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM# 610505
Mendeliome v0.12758 TSFM Zornitza Stark Publications for gene: TSFM were set to
Mendeliome v0.12757 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12756 PAX9 Krithika Murali reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615120, 16479262; Phenotypes: Tooth agenesis, selective, 3 - MIM#604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12756 TSFM Zornitza Stark changed review comment from: Ataxia is a reported feature of this mitochondrial disorder.; to: At least 5 families reported, however 3 had the same homozygous variant, ?founder.
Mendeliome v0.12756 TSFM Zornitza Stark edited their review of gene: TSFM: Changed publications: 25037205, 22499341
Mendeliome v0.12756 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Mendeliome v0.12756 TPK1 Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
Mendeliome v0.12756 TPK1 Zornitza Stark Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458
Mendeliome v0.12755 TPK1 Zornitza Stark Publications for gene: TPK1 were set to
Mendeliome v0.12754 TPK1 Zornitza Stark Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12753 TPK1 Zornitza Stark reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152682, 33626592, 33231275, 33086386; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12753 TP63 Zornitza Stark Marked gene: TP63 as ready
Mendeliome v0.12753 TP63 Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence).
Mendeliome v0.12753 TP63 Zornitza Stark Phenotypes for gene: TP63 were changed from to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
Mendeliome v0.12752 TP63 Zornitza Stark Publications for gene: TP63 were set to
Mendeliome v0.12751 TP63 Zornitza Stark Mode of inheritance for gene: TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12750 TP63 Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 20556892; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12750 TOR1A Zornitza Stark Marked gene: TOR1A as ready
Mendeliome v0.12750 TOR1A Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence).
Mendeliome v0.12750 TOR1A Zornitza Stark Phenotypes for gene: TOR1A were changed from to Arthrogryposis multiplex congenita, MIM#618947; Dystonia-1, torsion, MIM#128100
Mendeliome v0.12749 TOR1A Zornitza Stark Publications for gene: TOR1A were set to
Mendeliome v0.12748 TOR1A Zornitza Stark Mode of inheritance for gene: TOR1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12747 TOR1A Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244176, 9288096, 19955557, 18477710, 32243914, 31583275, 31347572; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947, Dystonia-1, torsion, MIM#128100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12747 TNXB Zornitza Stark Marked gene: TNXB as ready
Mendeliome v0.12747 TNXB Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
Mendeliome v0.12747 TNXB Zornitza Stark Phenotypes for gene: TNXB were changed from to Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408
Mendeliome v0.12746 TNXB Zornitza Stark Publications for gene: TNXB were set to
Mendeliome v0.12745 TNXB Zornitza Stark Mode of inheritance for gene: TNXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12744 TNXB Zornitza Stark reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 28306225, 23620400; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12744 TNPO3 Zornitza Stark Marked gene: TNPO3 as ready
Mendeliome v0.12744 TNPO3 Zornitza Stark Gene: tnpo3 has been classified as Green List (High Evidence).
Mendeliome v0.12744 TNPO3 Zornitza Stark Phenotypes for gene: TNPO3 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423
Mendeliome v0.12743 TNPO3 Zornitza Stark Publications for gene: TNPO3 were set to
Mendeliome v0.12742 TNPO3 Zornitza Stark Mode of inheritance for gene: TNPO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12741 TNPO3 Zornitza Stark reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23667635, 23543484, 31071488, 31192305; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12741 RSPO2 Zornitza Stark Marked gene: RSPO2 as ready
Mendeliome v0.12741 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Fetal anomalies v1.18 RSPO2 Zornitza Stark Marked gene: RSPO2 as ready
Fetal anomalies v1.18 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Fetal anomalies v1.18 RSPO2 Zornitza Stark Classified gene: RSPO2 as Green List (high evidence)
Fetal anomalies v1.18 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Fetal anomalies v1.17 RSPO2 Zornitza Stark gene: RSPO2 was added
gene: RSPO2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO2 were set to 29769720; 32457899
Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, MIM# 618021
Review for gene: RSPO2 was set to GREEN
Added comment: Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia. Four unrelated families and functional data including animal model.
Sources: Expert Review
Mendeliome v0.12741 RSPO2 Zornitza Stark Phenotypes for gene: RSPO2 were changed from to Tetraamelia syndrome 2, MIM# 618021
Mendeliome v0.12740 RSPO2 Zornitza Stark Publications for gene: RSPO2 were set to
Mendeliome v0.12739 RSPO2 Zornitza Stark Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4664 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Intellectual disability syndromic and non-syndromic v0.4663 PIGA Zornitza Stark Publications for gene: PIGA were set to 24706016; 24259184; 29159939
Intellectual disability syndromic and non-syndromic v0.4662 PIGA Zornitza Stark edited their review of gene: PIGA: Added comment: PMID 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; Changed publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024, 34875027; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466, Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Genetic Epilepsy v0.1546 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Genetic Epilepsy v0.1545 PIGA Zornitza Stark Publications for gene: PIGA were set to 24706016; 24259184; 29159939
Mendeliome v0.12738 PIGA Zornitza Stark changed review comment from: PIGA 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; to: PMID 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.
Genetic Epilepsy v0.1544 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024, 34875027; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466, Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12738 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Mendeliome v0.12737 PIGA Zornitza Stark edited their review of gene: PIGA: Added comment: PIGA 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; Changed publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024, 34875027; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466, Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Metal Metabolism Disorders v0.30 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Metal Metabolism Disorders v0.30 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1544 TRAPPC10 Zornitza Stark Marked gene: TRAPPC10 as ready
Genetic Epilepsy v0.1544 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1544 TRAPPC10 Zornitza Stark Classified gene: TRAPPC10 as Green List (high evidence)
Genetic Epilepsy v0.1544 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Proteinuria v0.184 TTC21B Zornitza Stark changed review comment from: No specific link to proteinuria identified.; to: No specific link between nephronophthisis and proteinuria identified.
Proteinuria v0.184 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Nephronophthisis 12, MIM#613820 to Glomerular disorder (MONDO:0019722), TTC21B-related
Proteinuria v0.183 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Proteinuria v0.182 TTC21B Zornitza Stark Classified gene: TTC21B as Green List (high evidence)
Proteinuria v0.182 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Mendeliome v0.12737 CACNA2D1 Zornitza Stark reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.257 SLC35B2 Zornitza Stark Marked gene: SLC35B2 as ready
Leukodystrophy v0.257 SLC35B2 Zornitza Stark Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.257 SLC35B2 Zornitza Stark Classified gene: SLC35B2 as Amber List (moderate evidence)
Leukodystrophy v0.257 SLC35B2 Zornitza Stark Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.256 SLC35B2 Zornitza Stark gene: SLC35B2 was added
gene: SLC35B2 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35B2 were set to 35325049
Phenotypes for gene: SLC35B2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related
Review for gene: SLC35B2 was set to AMBER
Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature
Leukodystrophy v0.255 Zornitza Stark removed gene:SLC35A2 from the panel
Leukodystrophy v0.254 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Leukodystrophy v0.254 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.254 SLC35A2 Zornitza Stark Classified gene: SLC35A2 as Amber List (moderate evidence)
Leukodystrophy v0.254 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.253 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: SLC35A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A2 were set to 35325049
Phenotypes for gene: SLC35A2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related
Review for gene: SLC35A2 was set to AMBER
Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature
Mendeliome v0.12737 SLC35B2 Zornitza Stark Phenotypes for gene: SLC35B2 were changed from chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability to Leukodystrophy, MONDO:0019046, SLC35B2-related
Intellectual disability syndromic and non-syndromic v0.4662 ATP2B1 Zornitza Stark Marked gene: ATP2B1 as ready
Intellectual disability syndromic and non-syndromic v0.4662 ATP2B1 Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4662 ATP2B1 Zornitza Stark Classified gene: ATP2B1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4662 ATP2B1 Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1543 ATP2B1 Zornitza Stark Marked gene: ATP2B1 as ready
Genetic Epilepsy v0.1543 ATP2B1 Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1543 ATP2B1 Zornitza Stark Classified gene: ATP2B1 as Green List (high evidence)
Genetic Epilepsy v0.1543 ATP2B1 Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
Mendeliome v0.12736 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder to Neurological disorder; Deafness, autosomal dominant 84 MIM#619810
Mendeliome v0.12735 ATP11A Zornitza Stark Publications for gene: ATP11A were set to PMID: 34403372
Mendeliome v0.12734 ATP11A Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12733 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Mendeliome v0.12733 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4661 CACNA2D1 Alison Yeung Marked gene: CACNA2D1 as ready
Intellectual disability syndromic and non-syndromic v0.4661 CACNA2D1 Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4661 CACNA2D1 Alison Yeung Phenotypes for gene: CACNA2D1 were changed from developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Intellectual disability syndromic and non-syndromic v0.4660 CACNA2D1 Alison Yeung Classified gene: CACNA2D1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4660 CACNA2D1 Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
Mendeliome v0.12733 CACNA2D1 Alison Yeung Marked gene: CACNA2D1 as ready
Mendeliome v0.12733 CACNA2D1 Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
Mendeliome v0.12733 CACNA2D1 Alison Yeung Phenotypes for gene: CACNA2D1 were changed from developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Mendeliome v0.12732 CACNA2D1 Alison Yeung Classified gene: CACNA2D1 as Green List (high evidence)
Mendeliome v0.12732 CACNA2D1 Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
Mendeliome v0.12731 TTC21B Dean Phelan edited their review of gene: TTC21B: Added comment: Correcting typographical error; Changed phenotypes: Glomerular disorder (MONDO:0019722), TTC21B-related
Proteinuria v0.181 TTC21B Dean Phelan reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35289079, 26940125, 28124483, 31208513, 34805047; Phenotypes: Glomerular disorder (MONDO:0019722), TTC21B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1542 TRAPPC10 Naomi Baker gene: TRAPPC10 was added
gene: TRAPPC10 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC10 were set to PMID: 35298461; 30167849
Phenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related
Review for gene: TRAPPC10 was set to GREEN
Added comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.

PMID: 30167849 – initial report of family 2 above.
Sources: Literature
Mendeliome v0.12731 CACNA2D1 Michelle Torres gene: CACNA2D1 was added
gene: CACNA2D1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D1 were set to 35293990
Phenotypes for gene: CACNA2D1 were set to developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Review for gene: CACNA2D1 was set to GREEN
Added comment: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.

Patient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts

Patient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed impaired localization and mutagenesis showed complete loss of channel function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4659 TRAPPC10 Zornitza Stark Marked gene: TRAPPC10 as ready
Intellectual disability syndromic and non-syndromic v0.4659 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4659 TRAPPC10 Zornitza Stark Classified gene: TRAPPC10 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4659 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Mendeliome v0.12731 TTC21B Dean Phelan edited their review of gene: TTC21B: Added comment: Updated to include additional publications linking glomerular disorder.; Changed rating: GREEN; Changed publications: PMID: 35289079, 26940125, 28124483, 31208513, 34805047; Changed phenotypes: Glomerular disorder (MONOD:0019722), TTC21B-related
Intellectual disability syndromic and non-syndromic v0.4658 CACNA2D1 Michelle Torres gene: CACNA2D1 was added
gene: CACNA2D1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D1 were set to 35293990
Phenotypes for gene: CACNA2D1 were set to developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Review for gene: CACNA2D1 was set to GREEN
Added comment: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.

Patient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts

Patient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed impaired localization and mutagenesis showed complete loss of channel function.
Sources: Literature
Mendeliome v0.12731 TRAPPC10 Zornitza Stark Marked gene: TRAPPC10 as ready
Mendeliome v0.12731 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Mendeliome v0.12731 TRAPPC10 Zornitza Stark Classified gene: TRAPPC10 as Green List (high evidence)
Mendeliome v0.12731 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Incidentalome v0.89 Zornitza Stark removed gene:CACNA2D1 from the panel
Microcephaly v1.118 TRAPPC10 Zornitza Stark Marked gene: TRAPPC10 as ready
Microcephaly v1.118 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Microcephaly v1.118 TRAPPC10 Zornitza Stark Classified gene: TRAPPC10 as Green List (high evidence)
Microcephaly v1.118 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Mendeliome v0.12730 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, dilated, 1Z, MIM# 611879; Cardiomyopathy, hypertrophic, 13 (MIM# 613243)
Hydrops fetalis v0.245 MDFIC Zornitza Stark reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrops fetalis v0.245 MDFIC Zornitza Stark Marked gene: MDFIC as ready
Hydrops fetalis v0.245 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Hydrops fetalis v0.245 MDFIC Zornitza Stark Classified gene: MDFIC as Green List (high evidence)
Hydrops fetalis v0.245 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).